Oncology
Genetic testing for hereditary and somatic cancers can provide life-changing results in affected patients and their relatives, accompanied by potential actionable steps for genetic-related cancers. With many different applications of genetic testing to detect and care for cancer, we can guide you in selecting the right options to enhance the treatment of your patients suffering from hereditary cancers. Having identified genetic variants associated with oncological diseases in more than 200 different genes, we can provide a comprehensive range to foster cancer diagnosis, prognosis, treatment selection, and monitoring.
BRCA1, BRCA2
| No. of genes: | 2 |
|---|---|
| TAT: | 15 business days |
| Coverage: | ≥99.00% ≥20x |
| Details: |
NGS including CNV analysis
|
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| BRCA1 | 113705 | Breast-ovarian cancer, familial, 1 | AD, MF |
| Pancreatic cancer, susceptibility to, 4 | - | ||
| Fanconi anemia, complementation group S | AR | ||
| BRCA2 | 600185 | Prostate cancer | AD, SM |
| Breast-ovarian cancer, familial, 2 | AD | ||
| Glioblastoma 3 | AR | ||
| Wilms tumor | AD, SM | ||
| Pancreatic cancer 2 | - | ||
| Breast cancer, male, susceptibility to | AD, SM | ||
| Fanconi anemia, complementation group D1 | AR | ||
| Medulloblastoma | AD, AR, SM |
BRCA1, BRCA2 Combi
| No. of genes: | 2 |
|---|---|
| TAT: | 15 business days |
| Coverage: | ≥99.00% ≥20x |
| Details: |
MLPA: BRCA1, BRCA2
|
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| BRCA1 | 113705 | Breast-ovarian cancer, familial, 1 | AD, MF |
| Pancreatic cancer, susceptibility to, 4 | - | ||
| Fanconi anemia, complementation group S | AR | ||
| BRCA2 | 600185 | Prostate cancer | AD, SM |
| Breast-ovarian cancer, familial, 2 | AD | ||
| Glioblastoma 3 | AR | ||
| Wilms tumor | AD, SM | ||
| Pancreatic cancer 2 | - | ||
| Breast cancer, male, susceptibility to | AD, SM | ||
| Fanconi anemia, complementation group D1 | AR | ||
| Medulloblastoma | AD, AR, SM |
BRCA1, BRCA2 Somatic
| No. of genes: | 2 |
|---|---|
| TAT: | 10 business days |
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| BRCA1 | 113705 | Breast-ovarian cancer, familial, 1 | AD, MF |
| Pancreatic cancer, susceptibility to, 4 | - | ||
| Fanconi anemia, complementation group S | AR | ||
| BRCA2 | 600185 | Prostate cancer | AD, SM |
| Breast-ovarian cancer, familial, 2 | AD | ||
| Glioblastoma 3 | AR | ||
| Wilms tumor | AD, SM | ||
| Pancreatic cancer 2 | - | ||
| Breast cancer, male, susceptibility to | AD, SM | ||
| Fanconi anemia, complementation group D1 | AR | ||
| Medulloblastoma | AD, AR, SM |
COMMON SYNDROMES AND DISORDERS COVERED
- Breast cancer
CentoBreast®
CentoBreast® detects mutations in the BRCA1 and BRCA2 genes, which are the most common hereditary causes for breast cancer. In addition, our panel includes other genes such as ATM, BRIP1, CHEK2, PALB2, RAD51, etc. which have also been associated with increased cancer risk. Breast cancer is one of the most common cancers in the world affecting ~12.5% of women during their lifetime, with 5–10% of these patients having a hereditary form.
| No. of genes: | 28 |
|---|---|
| TAT: | 15 business days |
| Coverage: | ≥99.00% ≥20x |
| Details: |
NGS including CNV analysis
|
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| ATM | 607585 | Breast cancer, susceptibility to | AD, SM |
| Ataxia-telangiectasia | AR | ||
| BARD1 | 601593 | Breast cancer, susceptibility to | AD, SM |
| BRCA1 | 113705 | Breast-ovarian cancer, familial, 1 | AD, MF |
| Pancreatic cancer, susceptibility to, 4 | - | ||
| Fanconi anemia, complementation group S | AR | ||
| BRCA2 | 600185 | Prostate cancer | AD, SM |
| Breast-ovarian cancer, familial, 2 | AD | ||
| Glioblastoma 3 | AR | ||
| Wilms tumor | AD, SM | ||
| Pancreatic cancer 2 | - | ||
| Breast cancer, male, susceptibility to | AD, SM | ||
| Fanconi anemia, complementation group D1 | AR | ||
| Medulloblastoma | AD, AR, SM | ||
| BRIP1 | 605882 | Fanconi anemia, complementation group J | - |
| Breast cancer, early-onset, susceptibility to | AD, SM | ||
| CDH1 | 192090 | Prostate cancer, susceptibility to | AD, SM |
| Breast cancer, lobular | AD, SM | ||
| Blepharocheilodontic syndrome 1 | AD | ||
| Ovarian cancer, somatic | - | ||
| Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate | AD | ||
| Endometrial carcinoma, somatic | - | ||
| CHEK2 | 604373 | Prostate cancer, familial, susceptibility to | AD, SM |
| Colorectal cancer, susceptibility to | AD, SM | ||
| Breast cancer, susceptibility to | AD, SM | ||
| Osteosarcoma, somatic | - | ||
| Li-Fraumeni syndrome | - | ||
| DICER1 | 606241 | Pleuropulmonary blastoma | AD |
| Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors | AD | ||
| GLOW syndrome, somatic mosaic | - | ||
| Rhabdomyosarcoma, embryonal, 2 | - | ||
| EPCAM | 185535 | Colorectal cancer, hereditary nonpolyposis, type 8 | AD |
| Diarrhea 5, with tufting enteropathy, congenital | AR | ||
| FANCC | 613899 | Fanconi anemia, complementation group C | AR |
| MEN1 | 613733 | Multiple endocrine neoplasia 1 | AD |
| MLH1 | 120436 | Mismatch repair cancer syndrome 1 | AR |
| Muir-Torre syndrome | AD | ||
| Colorectal cancer, hereditary nonpolyposis, type 2 | - | ||
| MRE11 | 600814 | Ataxia-telangiectasia-like disorder 1 | AR |
| MSH2 | 609309 | Muir-Torre syndrome | AD |
| Colorectal cancer, hereditary nonpolyposis, type 1 | AD | ||
| Mismatch repair cancer syndrome 2 | AR | ||
| MSH6 | 600678 | Colorectal cancer, hereditary nonpolyposis, type 5 | AD |
| Endometrial cancer, familial | AD, SM | ||
| Mismatch repair cancer syndrome 3 | AR | ||
| MUTYH | 604933 | Adenomas, multiple colorectal | AR |
| Gastric cancer, somatic | - | ||
| NBN | 602667 | Aplastic anemia | - |
| Leukemia, acute lymphoblastic | - | ||
| Nijmegen breakage syndrome | AR | ||
| PALB2 | 610355 | Pancreatic cancer, susceptibility to, 3 | - |
| Fanconi anemia, complementation group N | - | ||
| Breast cancer, susceptibility to | AD, SM | ||
| PMS2 | 600259 | Colorectal cancer, hereditary nonpolyposis, type 4 | - |
| Mismatch repair cancer syndrome 4 | AR | ||
| PTEN | 601728 | Cowden syndrome 1 | AD |
| Lhermitte-Duclos syndrome | AD | ||
| Macrocephaly/autism syndrome | AD | ||
| Glioma susceptibility 2 | - | ||
| Meningioma | AD | ||
| Prostate cancer, somatic | - | ||
| RAD50 | 604040 | Nijmegen breakage syndrome-like disorder | AR |
| RAD51C | 602774 | Fanconi anemia, complementation group O | AR |
| Breast-ovarian cancer, familial, susceptibility to, 3 | - | ||
| RAD51D | 602954 | Breast-ovarian cancer, familial, susceptibility to, 4 | - |
| SMARCA4 | 603254 | Coffin-Siris syndrome 4 | AD |
| Rhabdoid tumor predisposition syndrome 2 | AD | ||
| STK11 | 602216 | Peutz-Jeghers syndrome | AD |
| Melanoma, malignant, somatic | - | ||
| Testicular tumor, somatic | - | ||
| Pancreatic cancer, somatic | - | ||
| TP53 | 191170 | Hepatocellular carcinoma, somatic | - |
| Bone marrow failure syndrome 5 | AD | ||
| Basal cell carcinoma 7 | AD | ||
| Nasopharyngeal carcinoma, somatic | - | ||
| Choroid plexus papilloma | AD | ||
| Glioma susceptibility 1 | AD, SM | ||
| Pancreatic cancer, somatic | - | ||
| Breast cancer, somatic | - | ||
| Li-Fraumeni syndrome | AD | ||
| Adrenocortical carcinoma, pediatric | AD | ||
| Osteosarcoma | SM | ||
| Colorectal cancer | AD, SM | ||
| XRCC2 | 600375 | Spermatogenic failure | AR |
| ?Fanconi anemia, complementation group U | AR | ||
| ?Premature ovarian failure 17 | AR |
COMMON SYNDROMES AND DISORDERS COVERED
- Breast cancer
- Ovarian cancer
CentoCancer®
Each gene in CentoCancer has been carefully selected based on its risk potential in the development of one or more of the following cancers: breast, ovarian, colorectal, gastric, thyroid, endometrial, pancreatic, melanoma, renal, and prostate. This panel is appropiate for patients with positive personal history of early-onset cancer, rare cancer, bilateral cancer, or multiple primary cancers.
| No. of genes: | 67 |
|---|---|
| TAT: | 15 business days |
| Coverage: | ≥99.00% ≥20x |
| Details: |
NGS including CNV analysis
|
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| APC | 611731 | Colorectal cancer, somatic | - |
| Gastric cancer, somatic | - | ||
| Gastric adenocarcinoma and proximal polyposis of the stomach | AD | ||
| Desmoid disease, hereditary | AD | ||
| Adenomatous polyposis coli | AD | ||
| Gardner syndrome | AD | ||
| Brain tumor-polyposis syndrome 2 | AD | ||
| Hepatoblastoma, somatic | - | ||
| ATM | 607585 | Breast cancer, susceptibility to | AD, SM |
| Ataxia-telangiectasia | AR | ||
| AXIN2 | 604025 | Oligodontia-colorectal cancer syndrome | AD |
| Colorectal cancer, somatic | - | ||
| BAP1 | 603089 | Tumor predisposition syndrome | AD |
| Kury-Isidor syndrome | AD | ||
| Uveal melanoma, susceptibility to, 2 | - | ||
| BARD1 | 601593 | Breast cancer, susceptibility to | AD, SM |
| BLM | 604610 | Bloom syndrome | AR |
| BMPR1A | 601299 | Polyposis, juvenile intestinal | AD |
| Juvenile polyposis syndrome, infantile form | AD | ||
| Polyposis syndrome, hereditary mixed, 2 | - | ||
| BRCA1 | 113705 | Breast-ovarian cancer, familial, 1 | AD, MF |
| Pancreatic cancer, susceptibility to, 4 | - | ||
| Fanconi anemia, complementation group S | AR | ||
| BRCA2 | 600185 | Prostate cancer | AD, SM |
| Breast-ovarian cancer, familial, 2 | AD | ||
| Glioblastoma 3 | AR | ||
| Wilms tumor | AD, SM | ||
| Pancreatic cancer 2 | - | ||
| Breast cancer, male, susceptibility to | AD, SM | ||
| Fanconi anemia, complementation group D1 | AR | ||
| Medulloblastoma | AD, AR, SM | ||
| BRIP1 | 605882 | Fanconi anemia, complementation group J | - |
| Breast cancer, early-onset, susceptibility to | AD, SM | ||
| CDH1 | 192090 | Prostate cancer, susceptibility to | AD, SM |
| Breast cancer, lobular | AD, SM | ||
| Blepharocheilodontic syndrome 1 | AD | ||
| Ovarian cancer, somatic | - | ||
| Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate | AD | ||
| Endometrial carcinoma, somatic | - | ||
| CDK4 | 123829 | Melanoma, cutaneous malignant, 3 | AD |
| CDKN2A | 600160 | Melanoma and neural system tumor syndrome | AD |
| Melanoma-pancreatic cancer syndrome | AD | ||
| Melanoma, cutaneous malignant, 2 | AD | ||
| CHEK2 | 604373 | Prostate cancer, familial, susceptibility to | AD, SM |
| Colorectal cancer, susceptibility to | AD, SM | ||
| Breast cancer, susceptibility to | AD, SM | ||
| Osteosarcoma, somatic | - | ||
| Li-Fraumeni syndrome | - | ||
| DICER1 | 606241 | Pleuropulmonary blastoma | AD |
| Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors | AD | ||
| GLOW syndrome, somatic mosaic | - | ||
| Rhabdomyosarcoma, embryonal, 2 | - | ||
| DIS3L2 | 614184 | Perlman syndrome | AR |
| EPCAM | 185535 | Colorectal cancer, hereditary nonpolyposis, type 8 | AD |
| Diarrhea 5, with tufting enteropathy, congenital | AR | ||
| FANCC | 613899 | Fanconi anemia, complementation group C | AR |
| FH | 136850 | Fumarase deficiency | AR |
| Leiomyomatosis and renal cell cancer | AD | ||
| FLCN | 607273 | Birt-Hogg-Dube syndrome | AD |
| Pneumothorax, primary spontaneous | AD | ||
| Renal carcinoma, chromophobe, somatic | - | ||
| Colorectal cancer, somatic | - | ||
| GALNT12 | 610290 | Colorectal cancer, susceptibility to, 1 | - |
| HOXB13 | 604607 | Prostate cancer, hereditary, 9 | - |
| KIT | 164920 | Gastrointestinal stromal tumor, familial | AD, IC |
| Germ cell tumors, somatic | - | ||
| Piebaldism | AD | ||
| Leukemia, acute myeloid, somatic | - | ||
| Mastocytosis, systemic, somatic | - | ||
| Mastocytosis, cutaneous | AD | ||
| MC1R | 155555 | [Skin/hair/eye pigmentation 2, blond hair/fair skin] | AR |
| [Skin/hair/eye pigmentation 2, red hair/fair skin] | AR | ||
| Melanoma, cutaneous malignant, 5 | - | ||
| UV-induced skin damage | AR | ||
| [Analgesia from kappa-opioid receptor agonist, female-specific] | - | ||
| Albinism, oculocutaneous, type II, modifier of | AR | ||
| MEN1 | 613733 | Multiple endocrine neoplasia 1 | AD |
| MET | 164860 | Hepatocellular carcinoma, childhood type, somatic | - |
| ?Deafness, autosomal recessive 97 | AR | ||
| Osteofibrous dysplasia, susceptibility to | AD | ||
| Renal cell carcinoma, papillary, 1, familial and somatic | - | ||
| ?Arthrogryposis, distal, type 11 | - | ||
| MITF | 156845 | Melanoma, cutaneous malignant, susceptibility to, 8 | - |
| Waardenburg syndrome, type 2A | AD | ||
| Waardenburg syndrome/ocular albinism, digenic | - | ||
| Tietz albinism-deafness syndrome | AD | ||
| COMMAD syndrome | AR | ||
| MLH1 | 120436 | Mismatch repair cancer syndrome 1 | AR |
| Muir-Torre syndrome | AD | ||
| Colorectal cancer, hereditary nonpolyposis, type 2 | - | ||
| MLH3 | 604395 | Colorectal cancer, somatic | - |
| Endometrial cancer, susceptibility to | AD, SM | ||
| Colorectal cancer, hereditary nonpolyposis, type 7 | - | ||
| MRE11 | 600814 | Ataxia-telangiectasia-like disorder 1 | AR |
| MSH2 | 609309 | Muir-Torre syndrome | AD |
| Colorectal cancer, hereditary nonpolyposis, type 1 | AD | ||
| Mismatch repair cancer syndrome 2 | AR | ||
| MSH3 | 600887 | Endometrial carcinoma, somatic | - |
| Familial adenomatous polyposis 4 | AR | ||
| MSH6 | 600678 | Colorectal cancer, hereditary nonpolyposis, type 5 | AD |
| Endometrial cancer, familial | AD, SM | ||
| Mismatch repair cancer syndrome 3 | AR | ||
| MUTYH | 604933 | Adenomas, multiple colorectal | AR |
| Gastric cancer, somatic | - | ||
| NBN | 602667 | Aplastic anemia | - |
| Leukemia, acute lymphoblastic | - | ||
| Nijmegen breakage syndrome | AR | ||
| NF1 | 613113 | Watson syndrome | AD |
| Leukemia, juvenile myelomonocytic | AD, SM | ||
| Neurofibromatosis, type 1 | AD | ||
| Neurofibromatosis, familial spinal | AD | ||
| Neurofibromatosis-Noonan syndrome | AD | ||
| NTHL1 | 602656 | Familial adenomatous polyposis 3 | AR |
| PALB2 | 610355 | Pancreatic cancer, susceptibility to, 3 | - |
| Fanconi anemia, complementation group N | - | ||
| Breast cancer, susceptibility to | AD, SM | ||
| PMS2 | 600259 | Colorectal cancer, hereditary nonpolyposis, type 4 | - |
| Mismatch repair cancer syndrome 4 | AR | ||
| POLD1 | 174761 | Colorectal cancer, susceptibility to, 10 | AD |
| Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | AD | ||
| POLE | 174762 | Colorectal cancer, susceptibility to, 12 | AD |
| IMAGE-I syndrome | AR | ||
| FILS syndrome | AR | ||
| POT1 | 606478 | Melanoma, cutaneous malignant, susceptibility to, 10 | AD |
| Glioma susceptibility 9 | AD | ||
| PRSS1 | 276000 | Pancreatitis, hereditary | AD |
| PTCH1 | 601309 | Basal cell carcinoma, somatic | - |
| Holoprosencephaly 7 | AD | ||
| Basal cell nevus syndrome | AD | ||
| PTEN | 601728 | Cowden syndrome 1 | AD |
| Lhermitte-Duclos syndrome | AD | ||
| Macrocephaly/autism syndrome | AD | ||
| Glioma susceptibility 2 | - | ||
| Meningioma | AD | ||
| Prostate cancer, somatic | - | ||
| RAD50 | 604040 | Nijmegen breakage syndrome-like disorder | AR |
| RAD51C | 602774 | Fanconi anemia, complementation group O | AR |
| Breast-ovarian cancer, familial, susceptibility to, 3 | - | ||
| RAD51D | 602954 | Breast-ovarian cancer, familial, susceptibility to, 4 | - |
| RET | 164761 | Hirschsprung disease, susceptibility to, 1 | AD |
| Multiple endocrine neoplasia IIA | AD | ||
| Medullary thyroid carcinoma | AD | ||
| Pheochromocytoma | AD | ||
| Multiple endocrine neoplasia IIB | AD | ||
| Hirschsprung disease, protection against | AD | ||
| Central hypoventilation syndrome, congenital | AD | ||
| RNF43 | 612482 | Sessile serrated polyposis cancer syndrome | AD |
| SDHA | 600857 | Neurodegeneration with ataxia and late-onset optic atrophy | AD |
| Cardiomyopathy, dilated, 1GG | AR | ||
| Leigh syndrome | AR, Mitochondrial | ||
| Mitochondrial respiratory chain complex II deficiency | AR | ||
| Paragangliomas 5 | AD | ||
| SDHAF2 | 613019 | Paragangliomas 2 | AD |
| SDHB | 185470 | Pheochromocytoma | AD |
| Mitochondrial complex II deficiency, nuclear type 4 | AR | ||
| Paragangliomas 4 | AD | ||
| Paraganglioma and gastric stromal sarcoma | - | ||
| Gastrointestinal stromal tumor | AD, IC | ||
| SDHC | 602413 | Paraganglioma and gastric stromal sarcoma | - |
| Gastrointestinal stromal tumor | AD, IC | ||
| Paragangliomas 3 | AD | ||
| SDHD | 602690 | Mitochondrial complex II deficiency | AR |
| Paraganglioma and gastric stromal sarcoma | - | ||
| Paragangliomas 1, with or without deafness | AD | ||
| Mitochondrial complex II deficiency, nuclear type 3 | AR | ||
| Pheochromocytoma | AD | ||
| SMAD4 | 600993 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | AD |
| Pancreatic cancer, somatic | - | ||
| Myhre syndrome | AD | ||
| Polyposis, juvenile intestinal | AD | ||
| SMARCA4 | 603254 | Coffin-Siris syndrome 4 | AD |
| Rhabdoid tumor predisposition syndrome 2 | AD | ||
| STK11 | 602216 | Peutz-Jeghers syndrome | AD |
| Melanoma, malignant, somatic | - | ||
| Testicular tumor, somatic | - | ||
| Pancreatic cancer, somatic | - | ||
| TP53 | 191170 | Hepatocellular carcinoma, somatic | - |
| Bone marrow failure syndrome 5 | AD | ||
| Basal cell carcinoma 7 | AD | ||
| Nasopharyngeal carcinoma, somatic | - | ||
| Choroid plexus papilloma | AD | ||
| Glioma susceptibility 1 | AD, SM | ||
| Pancreatic cancer, somatic | - | ||
| Breast cancer, somatic | - | ||
| Li-Fraumeni syndrome | AD | ||
| Adrenocortical carcinoma, pediatric | AD | ||
| Osteosarcoma | SM | ||
| Colorectal cancer | AD, SM | ||
| TSC1 | 605284 | Lymphangioleiomyomatosis | - |
| Focal cortical dysplasia, type II, somatic | - | ||
| Tuberous sclerosis-1 | AD | ||
| TSC2 | 191092 | ?Focal cortical dysplasia, type II, somatic | - |
| Lymphangioleiomyomatosis, somatic | - | ||
| Tuberous sclerosis-2 | AD | ||
| VHL | 608537 | Pheochromocytoma | AD |
| von Hippel-Lindau syndrome | AD | ||
| Renal cell carcinoma, somatic | - | ||
| Erythrocytosis, familial, 2 | AR | ||
| WT1 | 607102 | Denys-Drash syndrome | AD, SM |
| Mesothelioma, somatic | - | ||
| Frasier syndrome | AD, SM | ||
| Meacham syndrome | AD | ||
| Wilms tumor, type 1 | AD, SM | ||
| Nephrotic syndrome, type 4 | AD | ||
| XRCC2 | 600375 | Spermatogenic failure | AR |
| ?Fanconi anemia, complementation group U | AR | ||
| ?Premature ovarian failure 17 | AR | ||
| XRCC3 | 600675 | Breast cancer, susceptibility to | AD, SM |
| Melanoma, cutaneous malignant, 6 | - |
COMMON SYNDROMES AND DISORDERS COVERED
- Breast cancer
- Colorectal cancer
- Endometrial cancer
- Familial adenomatous polyposis
- Gastric cancer
- Gastrointestinal stromal tumor
- Melanoma
- Ovarian cancer
- Pancreatic cancer
- Prostate cancer
- Renal cancer
- Skin cancer
- Thyroid cancer
- Uterine cancer
Downloads
Hereditary Cancer Panels – Product Sheet
Genetic testing for an improved prognosis
CentoCancer® comprehensive
CentoCancer comprehensive is our most extensive cancer panel, covering a large number of cancer-associated genes. Each gene in this panel has been carefully selected based on its risk potential in the development of one or more of the following cancers: breast, ovarian, colorectal, gastric, thyroid, endometrial, pancreatic, melanoma, renal, and prostate, among others.
| No. of genes: | 118 |
|---|---|
| TAT: | 15 business days |
| Coverage: | ≥99.00% ≥20x |
| Details: |
NGS including CNV analysis
|
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| ACVRL1 | 601284 | Telangiectasia, hereditary hemorrhagic, type 2 | AD |
| AKT1 | 164730 | Breast cancer, somatic | - |
| Cowden syndrome 6 | - | ||
| Colorectal cancer, somatic | - | ||
| Ovarian cancer, somatic | - | ||
| Proteus syndrome, somatic | - | ||
| APC | 611731 | Colorectal cancer, somatic | - |
| Gastric cancer, somatic | - | ||
| Gastric adenocarcinoma and proximal polyposis of the stomach | AD | ||
| Desmoid disease, hereditary | AD | ||
| Adenomatous polyposis coli | AD | ||
| Gardner syndrome | AD | ||
| Brain tumor-polyposis syndrome 2 | AD | ||
| Hepatoblastoma, somatic | - | ||
| ATM | 607585 | Breast cancer, susceptibility to | AD, SM |
| Ataxia-telangiectasia | AR | ||
| AXIN2 | 604025 | Oligodontia-colorectal cancer syndrome | AD |
| Colorectal cancer, somatic | - | ||
| BAP1 | 603089 | Tumor predisposition syndrome | AD |
| Kury-Isidor syndrome | AD | ||
| Uveal melanoma, susceptibility to, 2 | - | ||
| BARD1 | 601593 | Breast cancer, susceptibility to | AD, SM |
| BLM | 604610 | Bloom syndrome | AR |
| BMPR1A | 601299 | Polyposis, juvenile intestinal | AD |
| Juvenile polyposis syndrome, infantile form | AD | ||
| Polyposis syndrome, hereditary mixed, 2 | - | ||
| BRCA1 | 113705 | Breast-ovarian cancer, familial, 1 | AD, MF |
| Pancreatic cancer, susceptibility to, 4 | - | ||
| Fanconi anemia, complementation group S | AR | ||
| BRCA2 | 600185 | Prostate cancer | AD, SM |
| Breast-ovarian cancer, familial, 2 | AD | ||
| Glioblastoma 3 | AR | ||
| Wilms tumor | AD, SM | ||
| Pancreatic cancer 2 | - | ||
| Breast cancer, male, susceptibility to | AD, SM | ||
| Fanconi anemia, complementation group D1 | AR | ||
| Medulloblastoma | AD, AR, SM | ||
| BRIP1 | 605882 | Fanconi anemia, complementation group J | - |
| Breast cancer, early-onset, susceptibility to | AD, SM | ||
| BUB1B | 602860 | [Premature chromatid separation trait] | AD |
| Colorectal cancer, somatic | - | ||
| Mosaic variegated aneuploidy syndrome 1 | AR | ||
| CASR | 601199 | Epilepsy idiopathic generalized, susceptibility to, 8 | - |
| Hypocalcemia, autosomal dominant, with Bartter syndrome | AD | ||
| Hypocalciuric hypercalcemia, type I | AD | ||
| Hyperparathyroidism, neonatal | AD, AR | ||
| Hypocalcemia, autosomal dominant | AD | ||
| CDC73 | 607393 | Hyperparathyroidism, familial primary | AD |
| Parathyroid carcinoma | - | ||
| Parathyroid adenoma with cystic changes | AD | ||
| Hyperparathyroidism-jaw tumor syndrome | AD | ||
| CDH1 | 192090 | Prostate cancer, susceptibility to | AD, SM |
| Breast cancer, lobular | AD, SM | ||
| Blepharocheilodontic syndrome 1 | AD | ||
| Ovarian cancer, somatic | - | ||
| Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate | AD | ||
| Endometrial carcinoma, somatic | - | ||
| CDK4 | 123829 | Melanoma, cutaneous malignant, 3 | AD |
| CDKN1B | 600778 | Multiple endocrine neoplasia, type IV | AD |
| CDKN1C | 600856 | IMAGE syndrome | AD |
| Beckwith-Wiedemann syndrome | AD | ||
| CDKN2A | 600160 | Melanoma and neural system tumor syndrome | AD |
| Melanoma-pancreatic cancer syndrome | AD | ||
| Melanoma, cutaneous malignant, 2 | AD | ||
| CEBPA | 116897 | ?Leukemia, acute myeloid | AD, SM |
| Leukemia, acute myeloid, somatic | - | ||
| CHEK2 | 604373 | Prostate cancer, familial, susceptibility to | AD, SM |
| Colorectal cancer, susceptibility to | AD, SM | ||
| Breast cancer, susceptibility to | AD, SM | ||
| Osteosarcoma, somatic | - | ||
| Li-Fraumeni syndrome | - | ||
| CTNNA1 | 116805 | Macular dystrophy, patterned, 2 | AD |
| DDB2 | 600811 | Xeroderma pigmentosum, group E, DDB-negative subtype | AR |
| DDX41 | 608170 | Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to | AD |
| DICER1 | 606241 | Pleuropulmonary blastoma | AD |
| Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors | AD | ||
| GLOW syndrome, somatic mosaic | - | ||
| Rhabdomyosarcoma, embryonal, 2 | - | ||
| DIS3L2 | 614184 | Perlman syndrome | AR |
| EGFR | 131550 | Nonsmall cell lung cancer, susceptibility to | AD, SM |
| ?Inflammatory skin and bowel disease, neonatal, 2 | AR | ||
| Adenocarcinoma of lung, response to tyrosine kinase inhibitor in | AD, SM | ||
| Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in | AD, SM | ||
| EPCAM | 185535 | Colorectal cancer, hereditary nonpolyposis, type 8 | AD |
| Diarrhea 5, with tufting enteropathy, congenital | AR | ||
| ERCC2 | 126340 | ?Cerebrooculofacioskeletal syndrome 2 | AR |
| Xeroderma pigmentosum, group D | AR | ||
| Trichothiodystrophy 1, photosensitive | AR | ||
| ERCC3 | 133510 | Xeroderma pigmentosum, group B | AR |
| Trichothiodystrophy 2, photosensitive | AR | ||
| ERCC4 | 133520 | XFE progeroid syndrome | AR |
| Xeroderma pigmentosum, type F/Cockayne syndrome | AR | ||
| Xeroderma pigmentosum, group F | AR | ||
| Fanconi anemia, complementation group Q | AR | ||
| ERCC5 | 133530 | Xeroderma pigmentosum, group G | AR |
| Cerebrooculofacioskeletal syndrome 3 | AR | ||
| Xeroderma pigmentosum, group G/Cockayne syndrome | AR | ||
| ETV6 | 600618 | Leukemia, acute myeloid, somatic | - |
| Thrombocytopenia 5 | AD | ||
| EXT1 | 608177 | Chondrosarcoma | SM |
| Exostoses, multiple, type 1 | AD | ||
| EXT2 | 608210 | Exostoses, multiple, type 2 | AD |
| Seizures, scoliosis, and macrocephaly syndrome | AR | ||
| FANCC | 613899 | Fanconi anemia, complementation group C | AR |
| FH | 136850 | Fumarase deficiency | AR |
| Leiomyomatosis and renal cell cancer | AD | ||
| FLCN | 607273 | Birt-Hogg-Dube syndrome | AD |
| Pneumothorax, primary spontaneous | AD | ||
| Renal carcinoma, chromophobe, somatic | - | ||
| Colorectal cancer, somatic | - | ||
| GALNT12 | 610290 | Colorectal cancer, susceptibility to, 1 | - |
| GATA2 | 137295 | Myelodysplastic syndrome, susceptibility to | - |
| Leukemia, acute myeloid, susceptibility to | AD, SM | ||
| Emberger syndrome | AD | ||
| Immunodeficiency 21 | AD | ||
| GPC3 | 300037 | Simpson-Golabi-Behmel syndrome, type 1 | XLR |
| Wilms tumor, somatic | - | ||
| HNF1A | 142410 | Diabetes mellitus, insulin-dependent | AR |
| Diabetes mellitus, insulin-dependent, 20 | - | ||
| MODY, type III | AD | ||
| Diabetes mellitus, noninsulin-dependent, 2 | AD | ||
| Hepatic adenoma, somatic | - | ||
| Renal cell carcinoma | - | ||
| HNF1B | 189907 | Renal cysts and diabetes syndrome | AD |
| Diabetes mellitus, noninsulin-dependent | AD | ||
| Renal cell carcinoma | - | ||
| HOXB13 | 604607 | Prostate cancer, hereditary, 9 | - |
| HRAS | 190020 | Thyroid carcinoma, follicular, somatic | - |
| Spitz nevus or nevus spilus, somatic | - | ||
| Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic | - | ||
| Bladder cancer, somatic | - | ||
| Costello syndrome | AD | ||
| Nevus sebaceous or woolly hair nevus, somatic | - | ||
| Congenital myopathy with excess of muscle spindles | AD | ||
| KIF1B | 605995 | ?Charcot-Marie-Tooth disease, type 2A1 | AD |
| Pheochromocytoma | AD | ||
| Neuroblastoma, susceptibility to, 1 | AD, SM | ||
| KIT | 164920 | Gastrointestinal stromal tumor, familial | AD, IC |
| Germ cell tumors, somatic | - | ||
| Piebaldism | AD | ||
| Leukemia, acute myeloid, somatic | - | ||
| Mastocytosis, systemic, somatic | - | ||
| Mastocytosis, cutaneous | AD | ||
| MAX | 154950 | Pheochromocytoma, susceptibility to | AD |
| MC1R | 155555 | [Skin/hair/eye pigmentation 2, blond hair/fair skin] | AR |
| [Skin/hair/eye pigmentation 2, red hair/fair skin] | AR | ||
| Melanoma, cutaneous malignant, 5 | - | ||
| UV-induced skin damage | AR | ||
| [Analgesia from kappa-opioid receptor agonist, female-specific] | - | ||
| Albinism, oculocutaneous, type II, modifier of | AR | ||
| MEN1 | 613733 | Multiple endocrine neoplasia 1 | AD |
| MET | 164860 | Hepatocellular carcinoma, childhood type, somatic | - |
| ?Deafness, autosomal recessive 97 | AR | ||
| Osteofibrous dysplasia, susceptibility to | AD | ||
| Renal cell carcinoma, papillary, 1, familial and somatic | - | ||
| ?Arthrogryposis, distal, type 11 | - | ||
| MITF | 156845 | Melanoma, cutaneous malignant, susceptibility to, 8 | - |
| Waardenburg syndrome, type 2A | AD | ||
| Waardenburg syndrome/ocular albinism, digenic | - | ||
| Tietz albinism-deafness syndrome | AD | ||
| COMMAD syndrome | AR | ||
| MLH1 | 120436 | Mismatch repair cancer syndrome 1 | AR |
| Muir-Torre syndrome | AD | ||
| Colorectal cancer, hereditary nonpolyposis, type 2 | - | ||
| MLH3 | 604395 | Colorectal cancer, somatic | - |
| Endometrial cancer, susceptibility to | AD, SM | ||
| Colorectal cancer, hereditary nonpolyposis, type 7 | - | ||
| MRE11 | 600814 | Ataxia-telangiectasia-like disorder 1 | AR |
| MSH2 | 609309 | Muir-Torre syndrome | AD |
| Colorectal cancer, hereditary nonpolyposis, type 1 | AD | ||
| Mismatch repair cancer syndrome 2 | AR | ||
| MSH3 | 600887 | Endometrial carcinoma, somatic | - |
| Familial adenomatous polyposis 4 | AR | ||
| MSH6 | 600678 | Colorectal cancer, hereditary nonpolyposis, type 5 | AD |
| Endometrial cancer, familial | AD, SM | ||
| Mismatch repair cancer syndrome 3 | AR | ||
| MUTYH | 604933 | Adenomas, multiple colorectal | AR |
| Gastric cancer, somatic | - | ||
| NBN | 602667 | Aplastic anemia | - |
| Leukemia, acute lymphoblastic | - | ||
| Nijmegen breakage syndrome | AR | ||
| NF1 | 613113 | Watson syndrome | AD |
| Leukemia, juvenile myelomonocytic | AD, SM | ||
| Neurofibromatosis, type 1 | AD | ||
| Neurofibromatosis, familial spinal | AD | ||
| Neurofibromatosis-Noonan syndrome | AD | ||
| NF2 | 607379 | Neurofibromatosis, type 2 | AD |
| Schwannomatosis, somatic | - | ||
| Meningioma, NF2-related, somatic | - | ||
| NTHL1 | 602656 | Familial adenomatous polyposis 3 | AR |
| PALB2 | 610355 | Pancreatic cancer, susceptibility to, 3 | - |
| Fanconi anemia, complementation group N | - | ||
| Breast cancer, susceptibility to | AD, SM | ||
| PDGFRA | 173490 | Hypereosinophilic syndrome, idiopathic, resistant to imatinib | IC, SM |
| Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial | - | ||
| PHOX2B | 603851 | Central hypoventilation syndrome, congenital, with or without Hirschsprung disease | AD |
| Neuroblastoma, susceptibility to, 2 | - | ||
| Neuroblastoma with Hirschsprung disease | - | ||
| PIK3CA | 171834 | Keratosis, seborrheic, somatic | - |
| Ovarian cancer, somatic | - | ||
| CLAPO syndrome, somatic | - | ||
| Macrodactyly, somatic | - | ||
| CLOVE syndrome, somatic | - | ||
| Gastric cancer, somatic | - | ||
| Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic | - | ||
| Colorectal cancer, somatic | - | ||
| Nevus, epidermal, somatic | - | ||
| Breast cancer, somatic | - | ||
| Cerebral cavernous malformations 4, somatic | - | ||
| Cowden syndrome 5 | - | ||
| Hepatocellular carcinoma, somatic | - | ||
| Nonsmall cell lung cancer, somatic | - | ||
| PMS2 | 600259 | Colorectal cancer, hereditary nonpolyposis, type 4 | - |
| Mismatch repair cancer syndrome 4 | AR | ||
| POLD1 | 174761 | Colorectal cancer, susceptibility to, 10 | AD |
| Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | AD | ||
| POLE | 174762 | Colorectal cancer, susceptibility to, 12 | AD |
| IMAGE-I syndrome | AR | ||
| FILS syndrome | AR | ||
| POLH | 603968 | Xeroderma pigmentosum, variant type | AR |
| POT1 | 606478 | Melanoma, cutaneous malignant, susceptibility to, 10 | AD |
| Glioma susceptibility 9 | AD | ||
| PRKAR1A | 188830 | Myxoma, intracardiac | AD |
| Pigmented nodular adrenocortical disease, primary, 1 | AD | ||
| Carney complex, type 1 | AD | ||
| Acrodysostosis 1, with or without hormone resistance | AD | ||
| PRSS1 | 276000 | Pancreatitis, hereditary | AD |
| PTCH1 | 601309 | Basal cell carcinoma, somatic | - |
| Holoprosencephaly 7 | AD | ||
| Basal cell nevus syndrome | AD | ||
| PTCH2 | 603673 | Basal cell carcinoma, somatic | - |
| Basal cell nevus syndrome | AD | ||
| Medulloblastoma, somatic | - | ||
| PTEN | 601728 | Cowden syndrome 1 | AD |
| Lhermitte-Duclos syndrome | AD | ||
| Macrocephaly/autism syndrome | AD | ||
| Glioma susceptibility 2 | - | ||
| Meningioma | AD | ||
| Prostate cancer, somatic | - | ||
| RAD50 | 604040 | Nijmegen breakage syndrome-like disorder | AR |
| RAD51C | 602774 | Fanconi anemia, complementation group O | AR |
| Breast-ovarian cancer, familial, susceptibility to, 3 | - | ||
| RAD51D | 602954 | Breast-ovarian cancer, familial, susceptibility to, 4 | - |
| RB1 | 614041 | Bladder cancer, somatic | - |
| Retinoblastoma, trilateral | AD, SM | ||
| Small cell cancer of the lung, somatic | - | ||
| Osteosarcoma, somatic | - | ||
| Retinoblastoma | AD, SM | ||
| REST | 600571 | Wilms tumor 6, susceptibility to | AD |
| Fibromatosis, gingival, 5 | AD | ||
| ?Deafness, autosomal dominant 27 | AD | ||
| RET | 164761 | Hirschsprung disease, susceptibility to, 1 | AD |
| Multiple endocrine neoplasia IIA | AD | ||
| Medullary thyroid carcinoma | AD | ||
| Pheochromocytoma | AD | ||
| Multiple endocrine neoplasia IIB | AD | ||
| Hirschsprung disease, protection against | AD | ||
| Central hypoventilation syndrome, congenital | AD | ||
| RNF43 | 612482 | Sessile serrated polyposis cancer syndrome | AD |
| RUNX1 | 151385 | Leukemia, acute myeloid | AD, SM |
| Platelet disorder, familial, with associated myeloid malignancy | AD | ||
| SAMD9L | 611170 | Ataxia-pancytopenia syndrome | AD |
| Monosomy 7 myelodysplasia and leukemia syndrome 1 | AD | ||
| Spinocerebellar ataxia 49 | AD | ||
| SDHA | 600857 | Neurodegeneration with ataxia and late-onset optic atrophy | AD |
| Cardiomyopathy, dilated, 1GG | AR | ||
| Leigh syndrome | AR, Mitochondrial | ||
| Mitochondrial respiratory chain complex II deficiency | AR | ||
| Paragangliomas 5 | AD | ||
| SDHAF2 | 613019 | Paragangliomas 2 | AD |
| SDHB | 185470 | Pheochromocytoma | AD |
| Mitochondrial complex II deficiency, nuclear type 4 | AR | ||
| Paragangliomas 4 | AD | ||
| Paraganglioma and gastric stromal sarcoma | - | ||
| Gastrointestinal stromal tumor | AD, IC | ||
| SDHC | 602413 | Paraganglioma and gastric stromal sarcoma | - |
| Gastrointestinal stromal tumor | AD, IC | ||
| Paragangliomas 3 | AD | ||
| SDHD | 602690 | Mitochondrial complex II deficiency | AR |
| Paraganglioma and gastric stromal sarcoma | - | ||
| Paragangliomas 1, with or without deafness | AD | ||
| Mitochondrial complex II deficiency, nuclear type 3 | AR | ||
| Pheochromocytoma | AD | ||
| SMAD4 | 600993 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | AD |
| Pancreatic cancer, somatic | - | ||
| Myhre syndrome | AD | ||
| Polyposis, juvenile intestinal | AD | ||
| SMARCA2 | 600014 | Blepharophimosis-impaired intellectual development syndrome | AD |
| Nicolaides-Baraitser syndrome | AD | ||
| SMARCA4 | 603254 | Coffin-Siris syndrome 4 | AD |
| Rhabdoid tumor predisposition syndrome 2 | AD | ||
| SMARCB1 | 601607 | Coffin-Siris syndrome 3 | AD |
| Rhabdoid tumor predisposition syndrome 1 | AD | ||
| Schwannomatosis-1, susceptibility to | AD | ||
| Rhabdoid tumors, somatic | - | ||
| SMARCE1 | 603111 | Coffin-Siris syndrome 5 | AD |
| Meningioma, familial, susceptibility to | AD | ||
| STK11 | 602216 | Peutz-Jeghers syndrome | AD |
| Melanoma, malignant, somatic | - | ||
| Testicular tumor, somatic | - | ||
| Pancreatic cancer, somatic | - | ||
| SUFU | 607035 | Meningioma, familial, susceptibility to | AD |
| Basal cell nevus syndrome | AD | ||
| Medulloblastoma, desmoplastic | AD, AR, SM | ||
| Joubert syndrome 32 | AR | ||
| TERT | 187270 | Melanoma, cutaneous malignant, 9 | - |
| Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 | AD | ||
| Dyskeratosis congenita, autosomal dominant 2 | AD, AR | ||
| Leukemia, acute myeloid | AD, SM | ||
| Dyskeratosis congenita, autosomal recessive 4 | AD, AR | ||
| TGFBR2 | 190182 | Colorectal cancer, hereditary nonpolyposis, type 6 | - |
| Loeys-Dietz syndrome 2 | AD | ||
| Esophageal cancer, somatic | - | ||
| TMEM127 | 613403 | Pheochromocytoma, susceptibility to | AD |
| TP53 | 191170 | Hepatocellular carcinoma, somatic | - |
| Bone marrow failure syndrome 5 | AD | ||
| Basal cell carcinoma 7 | AD | ||
| Nasopharyngeal carcinoma, somatic | - | ||
| Choroid plexus papilloma | AD | ||
| Glioma susceptibility 1 | AD, SM | ||
| Pancreatic cancer, somatic | - | ||
| Breast cancer, somatic | - | ||
| Li-Fraumeni syndrome | AD | ||
| Adrenocortical carcinoma, pediatric | AD | ||
| Osteosarcoma | SM | ||
| Colorectal cancer | AD, SM | ||
| TRIP13 | 604507 | Oocyte maturation defect 9 | AR |
| Mosaic variegated aneuploidy syndrome 3 | AR | ||
| TSC1 | 605284 | Lymphangioleiomyomatosis | - |
| Focal cortical dysplasia, type II, somatic | - | ||
| Tuberous sclerosis-1 | AD | ||
| TSC2 | 191092 | ?Focal cortical dysplasia, type II, somatic | - |
| Lymphangioleiomyomatosis, somatic | - | ||
| Tuberous sclerosis-2 | AD | ||
| VHL | 608537 | Pheochromocytoma | AD |
| von Hippel-Lindau syndrome | AD | ||
| Renal cell carcinoma, somatic | - | ||
| Erythrocytosis, familial, 2 | AR | ||
| WRN | 604611 | Werner syndrome | AR |
| WT1 | 607102 | Denys-Drash syndrome | AD, SM |
| Mesothelioma, somatic | - | ||
| Frasier syndrome | AD, SM | ||
| Meacham syndrome | AD | ||
| Wilms tumor, type 1 | AD, SM | ||
| Nephrotic syndrome, type 4 | AD | ||
| XPA | 611153 | Xeroderma pigmentosum, group A | AR |
| XPC | 613208 | Xeroderma pigmentosum, group C | AR |
| XRCC2 | 600375 | Spermatogenic failure | AR |
| ?Fanconi anemia, complementation group U | AR | ||
| ?Premature ovarian failure 17 | AR | ||
| XRCC3 | 600675 | Breast cancer, susceptibility to | AD, SM |
| Melanoma, cutaneous malignant, 6 | - |
COMMON SYNDROMES AND DISORDERS COVERED
- Beckwith-Wiedemann syndrome
- Breast cancer
- Colorectal cancer
- Endometrial cancer
- Familial adenomatous polyposis
- Gastric cancer
- Gastrointestinal stromal tumor
- Hereditary Paraganglioma/ Pheochromocytoma
- Melanoma
- Ovarian cancer
- Pancreatic cancer
- Paragangliomas/Pheochromocytoma/
- Gastrointestinal stromal
- Prostate cancer
- Renal cancer
- Retinoblastoma
- Rothmund-Thomson syndrome (Type 2)
- Skin cancer
- Thyroid cancer
- Uterine cancer
Downloads
Hereditary Cancer Panels – Product Sheet
Genetic testing for an improved prognosis
CentoCancer® Pediatric
Cancer occurs in people of all ages, with some being nearly exclusively tied to childhood. CentoCancer Pediatric is our comprehensive solution to detect genes associated with pediatric cancer. The gene list has been carefully curated by internal and external experts to cover the most common forms of pediatric cancer. Germline mutations identified by these panel will help to define prognosis, differentiate patient/family risk, and guide treatment decisions. Spotting cancer early increases the chances of survival.
| No. of genes: | 98 |
| TAT: | 15 days |
| Coverage: | ≥99.00% 20x |
| Details: | NGS including CNV analysis |
COMMON SYNDROMES AND DISORDERS COVERED
- Leukemia
- Malignant brain tumors
- Lymphomas
- Bone cancer
- Neuroblastoma
- Wilms tumor
- Rhabdomyosarcoma
CentoCancer® Predict
CentoCancer Predict has been uniquely designed to help your patients understand their risk of developing hereditary cancers – preventing disease onset and reducing the impact through early detection. This panel is intended for individuals who are asymptomatic and do not have a family history of cancer, and is available to those of legal age based on the regulations of their country of residence.
| No. of genes: | 67 |
|---|---|
| TAT: | 15 business days |
| Coverage: | ≥99.00% ≥20x |
| Details: |
NGS including CNV analysis
|
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| APC | 611731 | Colorectal cancer, somatic | - |
| Gastric cancer, somatic | - | ||
| Gastric adenocarcinoma and proximal polyposis of the stomach | AD | ||
| Desmoid disease, hereditary | AD | ||
| Adenomatous polyposis coli | AD | ||
| Gardner syndrome | AD | ||
| Brain tumor-polyposis syndrome 2 | AD | ||
| Hepatoblastoma, somatic | - | ||
| ATM | 607585 | Breast cancer, susceptibility to | AD, SM |
| Ataxia-telangiectasia | AR | ||
| AXIN2 | 604025 | Oligodontia-colorectal cancer syndrome | AD |
| Colorectal cancer, somatic | - | ||
| BAP1 | 603089 | Tumor predisposition syndrome | AD |
| Kury-Isidor syndrome | AD | ||
| Uveal melanoma, susceptibility to, 2 | - | ||
| BARD1 | 601593 | Breast cancer, susceptibility to | AD, SM |
| BLM | 604610 | Bloom syndrome | AR |
| BMPR1A | 601299 | Polyposis, juvenile intestinal | AD |
| Juvenile polyposis syndrome, infantile form | AD | ||
| Polyposis syndrome, hereditary mixed, 2 | - | ||
| BRCA1 | 113705 | Breast-ovarian cancer, familial, 1 | AD, MF |
| Pancreatic cancer, susceptibility to, 4 | - | ||
| Fanconi anemia, complementation group S | AR | ||
| BRCA2 | 600185 | Prostate cancer | AD, SM |
| Breast-ovarian cancer, familial, 2 | AD | ||
| Glioblastoma 3 | AR | ||
| Wilms tumor | AD, SM | ||
| Pancreatic cancer 2 | - | ||
| Breast cancer, male, susceptibility to | AD, SM | ||
| Fanconi anemia, complementation group D1 | AR | ||
| Medulloblastoma | AD, AR, SM | ||
| BRIP1 | 605882 | Fanconi anemia, complementation group J | - |
| Breast cancer, early-onset, susceptibility to | AD, SM | ||
| CDH1 | 192090 | Prostate cancer, susceptibility to | AD, SM |
| Breast cancer, lobular | AD, SM | ||
| Blepharocheilodontic syndrome 1 | AD | ||
| Ovarian cancer, somatic | - | ||
| Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate | AD | ||
| Endometrial carcinoma, somatic | - | ||
| CDK4 | 123829 | Melanoma, cutaneous malignant, 3 | AD |
| CDKN2A | 600160 | Melanoma and neural system tumor syndrome | AD |
| Melanoma-pancreatic cancer syndrome | AD | ||
| Melanoma, cutaneous malignant, 2 | AD | ||
| CHEK2 | 604373 | Prostate cancer, familial, susceptibility to | AD, SM |
| Colorectal cancer, susceptibility to | AD, SM | ||
| Breast cancer, susceptibility to | AD, SM | ||
| Osteosarcoma, somatic | - | ||
| Li-Fraumeni syndrome | - | ||
| DICER1 | 606241 | Pleuropulmonary blastoma | AD |
| Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors | AD | ||
| GLOW syndrome, somatic mosaic | - | ||
| Rhabdomyosarcoma, embryonal, 2 | - | ||
| DIS3L2 | 614184 | Perlman syndrome | AR |
| EPCAM | 185535 | Colorectal cancer, hereditary nonpolyposis, type 8 | AD |
| Diarrhea 5, with tufting enteropathy, congenital | AR | ||
| FANCC | 613899 | Fanconi anemia, complementation group C | AR |
| FH | 136850 | Fumarase deficiency | AR |
| Leiomyomatosis and renal cell cancer | AD | ||
| FLCN | 607273 | Birt-Hogg-Dube syndrome | AD |
| Pneumothorax, primary spontaneous | AD | ||
| Renal carcinoma, chromophobe, somatic | - | ||
| Colorectal cancer, somatic | - | ||
| GALNT12 | 610290 | Colorectal cancer, susceptibility to, 1 | - |
| HOXB13 | 604607 | Prostate cancer, hereditary, 9 | - |
| KIT | 164920 | Gastrointestinal stromal tumor, familial | AD, IC |
| Germ cell tumors, somatic | - | ||
| Piebaldism | AD | ||
| Leukemia, acute myeloid, somatic | - | ||
| Mastocytosis, systemic, somatic | - | ||
| Mastocytosis, cutaneous | AD | ||
| MC1R | 155555 | [Skin/hair/eye pigmentation 2, blond hair/fair skin] | AR |
| [Skin/hair/eye pigmentation 2, red hair/fair skin] | AR | ||
| Melanoma, cutaneous malignant, 5 | - | ||
| UV-induced skin damage | AR | ||
| [Analgesia from kappa-opioid receptor agonist, female-specific] | - | ||
| Albinism, oculocutaneous, type II, modifier of | AR | ||
| MEN1 | 613733 | Multiple endocrine neoplasia 1 | AD |
| MET | 164860 | Hepatocellular carcinoma, childhood type, somatic | - |
| ?Deafness, autosomal recessive 97 | AR | ||
| Osteofibrous dysplasia, susceptibility to | AD | ||
| Renal cell carcinoma, papillary, 1, familial and somatic | - | ||
| ?Arthrogryposis, distal, type 11 | - | ||
| MITF | 156845 | Melanoma, cutaneous malignant, susceptibility to, 8 | - |
| Waardenburg syndrome, type 2A | AD | ||
| Waardenburg syndrome/ocular albinism, digenic | - | ||
| Tietz albinism-deafness syndrome | AD | ||
| COMMAD syndrome | AR | ||
| MLH1 | 120436 | Mismatch repair cancer syndrome 1 | AR |
| Muir-Torre syndrome | AD | ||
| Colorectal cancer, hereditary nonpolyposis, type 2 | - | ||
| MLH3 | 604395 | Colorectal cancer, somatic | - |
| Endometrial cancer, susceptibility to | AD, SM | ||
| Colorectal cancer, hereditary nonpolyposis, type 7 | - | ||
| MRE11 | 600814 | Ataxia-telangiectasia-like disorder 1 | AR |
| MSH2 | 609309 | Muir-Torre syndrome | AD |
| Colorectal cancer, hereditary nonpolyposis, type 1 | AD | ||
| Mismatch repair cancer syndrome 2 | AR | ||
| MSH3 | 600887 | Endometrial carcinoma, somatic | - |
| Familial adenomatous polyposis 4 | AR | ||
| MSH6 | 600678 | Colorectal cancer, hereditary nonpolyposis, type 5 | AD |
| Endometrial cancer, familial | AD, SM | ||
| Mismatch repair cancer syndrome 3 | AR | ||
| MUTYH | 604933 | Adenomas, multiple colorectal | AR |
| Gastric cancer, somatic | - | ||
| NBN | 602667 | Aplastic anemia | - |
| Leukemia, acute lymphoblastic | - | ||
| Nijmegen breakage syndrome | AR | ||
| NF1 | 613113 | Watson syndrome | AD |
| Leukemia, juvenile myelomonocytic | AD, SM | ||
| Neurofibromatosis, type 1 | AD | ||
| Neurofibromatosis, familial spinal | AD | ||
| Neurofibromatosis-Noonan syndrome | AD | ||
| NTHL1 | 602656 | Familial adenomatous polyposis 3 | AR |
| PALB2 | 610355 | Pancreatic cancer, susceptibility to, 3 | - |
| Fanconi anemia, complementation group N | - | ||
| Breast cancer, susceptibility to | AD, SM | ||
| PMS2 | 600259 | Colorectal cancer, hereditary nonpolyposis, type 4 | - |
| Mismatch repair cancer syndrome 4 | AR | ||
| POLD1 | 174761 | Colorectal cancer, susceptibility to, 10 | AD |
| Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | AD | ||
| POLE | 174762 | Colorectal cancer, susceptibility to, 12 | AD |
| IMAGE-I syndrome | AR | ||
| FILS syndrome | AR | ||
| POT1 | 606478 | Melanoma, cutaneous malignant, susceptibility to, 10 | AD |
| Glioma susceptibility 9 | AD | ||
| PRSS1 | 276000 | Pancreatitis, hereditary | AD |
| PTCH1 | 601309 | Basal cell carcinoma, somatic | - |
| Holoprosencephaly 7 | AD | ||
| Basal cell nevus syndrome | AD | ||
| PTEN | 601728 | Cowden syndrome 1 | AD |
| Lhermitte-Duclos syndrome | AD | ||
| Macrocephaly/autism syndrome | AD | ||
| Glioma susceptibility 2 | - | ||
| Meningioma | AD | ||
| Prostate cancer, somatic | - | ||
| RAD50 | 604040 | Nijmegen breakage syndrome-like disorder | AR |
| RAD51C | 602774 | Fanconi anemia, complementation group O | AR |
| Breast-ovarian cancer, familial, susceptibility to, 3 | - | ||
| RAD51D | 602954 | Breast-ovarian cancer, familial, susceptibility to, 4 | - |
| RET | 164761 | Hirschsprung disease, susceptibility to, 1 | AD |
| Multiple endocrine neoplasia IIA | AD | ||
| Medullary thyroid carcinoma | AD | ||
| Pheochromocytoma | AD | ||
| Multiple endocrine neoplasia IIB | AD | ||
| Hirschsprung disease, protection against | AD | ||
| Central hypoventilation syndrome, congenital | AD | ||
| RNF43 | 612482 | Sessile serrated polyposis cancer syndrome | AD |
| SDHA | 600857 | Neurodegeneration with ataxia and late-onset optic atrophy | AD |
| Cardiomyopathy, dilated, 1GG | AR | ||
| Leigh syndrome | AR, Mitochondrial | ||
| Mitochondrial respiratory chain complex II deficiency | AR | ||
| Paragangliomas 5 | AD | ||
| SDHAF2 | 613019 | Paragangliomas 2 | AD |
| SDHB | 185470 | Pheochromocytoma | AD |
| Mitochondrial complex II deficiency, nuclear type 4 | AR | ||
| Paragangliomas 4 | AD | ||
| Paraganglioma and gastric stromal sarcoma | - | ||
| Gastrointestinal stromal tumor | AD, IC | ||
| SDHC | 602413 | Paraganglioma and gastric stromal sarcoma | - |
| Gastrointestinal stromal tumor | AD, IC | ||
| Paragangliomas 3 | AD | ||
| SDHD | 602690 | Mitochondrial complex II deficiency | AR |
| Paraganglioma and gastric stromal sarcoma | - | ||
| Paragangliomas 1, with or without deafness | AD | ||
| Mitochondrial complex II deficiency, nuclear type 3 | AR | ||
| Pheochromocytoma | AD | ||
| SMAD4 | 600993 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | AD |
| Pancreatic cancer, somatic | - | ||
| Myhre syndrome | AD | ||
| Polyposis, juvenile intestinal | AD | ||
| SMARCA4 | 603254 | Coffin-Siris syndrome 4 | AD |
| Rhabdoid tumor predisposition syndrome 2 | AD | ||
| STK11 | 602216 | Peutz-Jeghers syndrome | AD |
| Melanoma, malignant, somatic | - | ||
| Testicular tumor, somatic | - | ||
| Pancreatic cancer, somatic | - | ||
| TP53 | 191170 | Hepatocellular carcinoma, somatic | - |
| Bone marrow failure syndrome 5 | AD | ||
| Basal cell carcinoma 7 | AD | ||
| Nasopharyngeal carcinoma, somatic | - | ||
| Choroid plexus papilloma | AD | ||
| Glioma susceptibility 1 | AD, SM | ||
| Pancreatic cancer, somatic | - | ||
| Breast cancer, somatic | - | ||
| Li-Fraumeni syndrome | AD | ||
| Adrenocortical carcinoma, pediatric | AD | ||
| Osteosarcoma | SM | ||
| Colorectal cancer | AD, SM | ||
| TSC1 | 605284 | Lymphangioleiomyomatosis | - |
| Focal cortical dysplasia, type II, somatic | - | ||
| Tuberous sclerosis-1 | AD | ||
| TSC2 | 191092 | ?Focal cortical dysplasia, type II, somatic | - |
| Lymphangioleiomyomatosis, somatic | - | ||
| Tuberous sclerosis-2 | AD | ||
| VHL | 608537 | Pheochromocytoma | AD |
| von Hippel-Lindau syndrome | AD | ||
| Renal cell carcinoma, somatic | - | ||
| Erythrocytosis, familial, 2 | AR | ||
| WT1 | 607102 | Denys-Drash syndrome | AD, SM |
| Mesothelioma, somatic | - | ||
| Frasier syndrome | AD, SM | ||
| Meacham syndrome | AD | ||
| Wilms tumor, type 1 | AD, SM | ||
| Nephrotic syndrome, type 4 | AD | ||
| XRCC2 | 600375 | Spermatogenic failure | AR |
| ?Fanconi anemia, complementation group U | AR | ||
| ?Premature ovarian failure 17 | AR | ||
| XRCC3 | 600675 | Breast cancer, susceptibility to | AD, SM |
| Melanoma, cutaneous malignant, 6 | - |
COMMON SYNDROMES AND DISORDERS COVERED
- Breast cancer
- Colorectal cancer
- Endometrial cancer
- Familial adenomatous polyposis
- Gastric cancer
- Gastrointestinal stromal tumor
- Melanoma
- Ovarian cancer
- Pancreatic cancer
- Prostate cancer
- Renal cancer
- Skin cancer
- Thyroid cancer
- Uterine cancer
Myeloid tumor panel
Our myeloid tumor panel targets important regions within 35 genes that are frequently mutated in myeloid malignancies. Myeloid malignancies are clonal diseases of hematopoietic progenitor cells. Myeloid tumors represent the fourth most frequently diagnosed cancer in economically developed countries. The majority of myeloid tumors contain high numbers of somatic mutations, which are genetic changes that are not inherited but created within the tumor itself. Unlike inherited “germline” mutations, these somatic mutations are not transmitted to offspring. Somatic mutations significantly contribute to the pathogenesis, progression, and prognosis of myeloid malignancies.
| No. of genes: | 35 |
|---|---|
| TAT: | 10 business days |
| Coverage: | ≥97.00% ≥200x |
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| ASXL1 | 612990 | Bohring-Opitz syndrome | AD |
| Myelodysplastic syndrome, somatic | - | ||
| ATM | 607585 | Breast cancer, susceptibility to | AD, SM |
| Ataxia-telangiectasia | AR | ||
| CBL | 165360 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | AD |
| ?Juvenile myelomonocytic leukemia | AD, SM | ||
| CDKN2A | 600160 | Melanoma and neural system tumor syndrome | AD |
| Melanoma-pancreatic cancer syndrome | AD | ||
| Melanoma, cutaneous malignant, 2 | AD | ||
| CEBPA | 116897 | ?Leukemia, acute myeloid | AD, SM |
| Leukemia, acute myeloid, somatic | - | ||
| CREBBP | 600140 | Menke-Hennekam syndrome 1 | AD |
| Rubinstein-Taybi syndrome 1 | AD | ||
| DNMT3A | 602769 | Tatton-Brown-Rahman syndrome | AD |
| Heyn-Sproul-Jackson syndrome | AD | ||
| Acute myeloid leukemia, somatic | - | ||
| ETV6 | 600618 | Leukemia, acute myeloid, somatic | - |
| Thrombocytopenia 5 | AD | ||
| EZH2 | 601573 | Weaver syndrome | AD |
| FLT3 | 136351 | Leukemia, acute lymphoblastic, somatic | - |
| Leukemia, acute myeloid, reduced survival in, somatic | - | ||
| Leukemia, acute myeloid, somatic | - | ||
| GATA2 | 137295 | Myelodysplastic syndrome, susceptibility to | - |
| Leukemia, acute myeloid, susceptibility to | AD, SM | ||
| Emberger syndrome | AD | ||
| Immunodeficiency 21 | AD | ||
| HRAS | 190020 | Thyroid carcinoma, follicular, somatic | - |
| Spitz nevus or nevus spilus, somatic | - | ||
| Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic | - | ||
| Bladder cancer, somatic | - | ||
| Costello syndrome | AD | ||
| Nevus sebaceous or woolly hair nevus, somatic | - | ||
| Congenital myopathy with excess of muscle spindles | AD | ||
| IDH1 | 147700 | Glioma, susceptibility to, somatic | - |
| IDH2 | 147650 | D-2-hydroxyglutaric aciduria 2 | - |
| JAK2 | 147796 | Erythrocytosis, somatic | - |
| Polycythemia vera, somatic | - | ||
| Leukemia, acute myeloid, somatic | - | ||
| Thrombocythemia 3 | AD, SM | ||
| Budd-Chiari syndrome, somatic | - | ||
| Myelofibrosis, somatic | - | ||
| KIT | 164920 | Gastrointestinal stromal tumor, familial | AD, IC |
| Germ cell tumors, somatic | - | ||
| Piebaldism | AD | ||
| Leukemia, acute myeloid, somatic | - | ||
| Mastocytosis, systemic, somatic | - | ||
| Mastocytosis, cutaneous | AD | ||
| KRAS | 190070 | Arteriovenous malformation of the brain, somatic | - |
| Gastric cancer, somatic | - | ||
| Oculoectodermal syndrome, somatic | - | ||
| RAS-associated autoimmune leukoproliferative disorder | AD | ||
| Gastric cancer, somatic | - | ||
| Pancreatic carcinoma, somatic | - | ||
| Lung cancer, somatic | - | ||
| Cardiofaciocutaneous syndrome 2 | AD | ||
| Bladder cancer, somatic | - | ||
| Leukemia, acute myeloid, somatic | - | ||
| Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic | - | ||
| Breast cancer, somatic | - | ||
| Noonan syndrome 3 | AD | ||
| NF1 | 613113 | Watson syndrome | AD |
| Leukemia, juvenile myelomonocytic | AD, SM | ||
| Neurofibromatosis, type 1 | AD | ||
| Neurofibromatosis, familial spinal | AD | ||
| Neurofibromatosis-Noonan syndrome | AD | ||
| NOTCH1 | 190198 | Adams-Oliver syndrome 5 | AD |
| Aortic valve disease 1 | AD | ||
| NPM1 | 164040 | Leukemia, acute myeloid, somatic | - |
| NRAS | 164790 | Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic | - |
| Colorectal cancer, somatic | - | ||
| Neurocutaneous melanosis, somatic | - | ||
| ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | - | ||
| Noonan syndrome 6 | AD | ||
| Melanocytic nevus syndrome, congenital, somatic | - | ||
| Thyroid carcinoma, follicular, somatic | - | ||
| Epidermal nevus, somatic | - | ||
| PDGFRB | 173410 | Myeloproliferative disorder with eosinophilia | AD |
| Myofibromatosis, infantile, 1 | AD | ||
| Premature aging syndrome, Penttinen type | AD | ||
| Basal ganglia calcification, idiopathic, 4 | AD | ||
| Kosaki overgrowth syndrome | AD | ||
| PHF6 | 300414 | Borjeson-Forssman-Lehmann syndrome | XLR |
| PTPN11 | 176876 | Leukemia, juvenile myelomonocytic, somatic | - |
| LEOPARD syndrome 1 | AD | ||
| Metachondromatosis | AD | ||
| Noonan syndrome 1 | AD | ||
| RAD21 | 606462 | Cornelia de Lange syndrome 4 | AD |
| ?Mungan syndrome | AR | ||
| RUNX1 | 151385 | Leukemia, acute myeloid | AD, SM |
| Platelet disorder, familial, with associated myeloid malignancy | AD | ||
| SF3B1 | 605590 | Myelodysplastic syndrome, somatic | - |
| SMC1A | 300040 | Developmental and epileptic encephalopathy 85, with or without midline brain defects | XLD |
| Cornelia de Lange syndrome 2 | XLD | ||
| SMC3 | 606062 | Cornelia de Lange syndrome 3 | AD |
| STAG2 | 300826 | Mullegama-Klein-Martinez syndrome | XL |
| Holoprosencephaly 13, X-linked | XLD, XLR | ||
| TET2 | 612839 | Myelodysplastic syndrome, somatic | - |
| Immunodeficiency 75 | AR | ||
| TP53 | 191170 | Hepatocellular carcinoma, somatic | - |
| Bone marrow failure syndrome 5 | AD | ||
| Basal cell carcinoma 7 | AD | ||
| Nasopharyngeal carcinoma, somatic | - | ||
| Choroid plexus papilloma | AD | ||
| Glioma susceptibility 1 | AD, SM | ||
| Pancreatic cancer, somatic | - | ||
| Breast cancer, somatic | - | ||
| Li-Fraumeni syndrome | AD | ||
| Adrenocortical carcinoma, pediatric | AD | ||
| Osteosarcoma | SM | ||
| Colorectal cancer | AD, SM | ||
| WT1 | 607102 | Denys-Drash syndrome | AD, SM |
| Mesothelioma, somatic | - | ||
| Frasier syndrome | AD, SM | ||
| Meacham syndrome | AD | ||
| Wilms tumor, type 1 | AD, SM | ||
| Nephrotic syndrome, type 4 | AD |
COMMON SYNDROMES AND DISORDERS COVERED
- Acute myeloid leukemia
- Chronic myeloid leukemia
- Chronic myelomonocytic leukemia
- Juvenile myelomonocytic leukemia
- Myelodysplastic syndrome
- Myeloid tumor
- Myeloproliferative neoplasms
Dowloads
Myeloid Tumor Panel – Product Sheet
The targeted approach to detecting myeloid malignancies
Solid tumor panel
Our solid tumor panel provides full sequencing of 106 selected cancer-associated genes as well as the hotspot analysis of relevant cancer regions in 43 genes. It detects over 5,000 validated oncogenic variants and includes the latest evidence-based variants associated with treatment decisions in solid tumors. The panel has more than 25 genes with approved targeted therapies or those that are being currently tested in clinical trials. Furthermore, somatic variants with an impact on prognosis of the individual tumor or on the efficacy of standard anti-tumor therapy are captured. It covers more than 100 different types of somatic cancers, including adrenal, colon, hepatic, prostate, renal, skin, testicular, thyroid, glioma, esophageal, endometrial, and breast cancer, among others. The panel provides a better understanding of tumor behavior as well as its likelihood to respond to a treatment, contributing to tailored medicine for the patient, thus frequently leading to a better outcome or reduced adverse effects.
| No. of genes: | 149 |
|---|---|
| TAT: | 10 business days |
| Coverage: | ≥97.00% ≥200x |
| Details: |
Hotspot analysis (somatic) via NGS: ALK, ARAF, AXL, BTK, CBL, CCND1, CDK6, ERCC2, ESR1, FLT3, FOXL2, GATA2, H3-3A, H3C2, JAK1, JAK2, JAK3, KNSTRN, MAGOH, MAP2K4, MAPK1, MAX, MDM4, MED12, MYC, MYCN, MYD88, NTRK1, NTRK2, PDGFRB, PIK3CB, PPP2R1A, RAC1, RAF1, RHEB, RHOA, ROS1, SF3B1, STAT3, TERT, TOP1, U2AF1, XPO1
|
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| ABL1 | 189980 | Congenital heart defects and skeletal malformations syndrome | AD |
| Leukemia, Philadelphia chromosome-positive, resistant to imatinib | SM | ||
| AKT1 | 164730 | Breast cancer, somatic | - |
| Cowden syndrome 6 | - | ||
| Colorectal cancer, somatic | - | ||
| Ovarian cancer, somatic | - | ||
| Proteus syndrome, somatic | - | ||
| AKT2 | 164731 | Diabetes mellitus, type II | AD |
| Hypoinsulinemic hypoglycemia with hemihypertrophy | AD | ||
| AKT3 | 611223 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | AD |
| ALK | 105590 | Neuroblastoma, susceptibility to, 3 | - |
| APC | 611731 | Colorectal cancer, somatic | - |
| Gastric cancer, somatic | - | ||
| Gastric adenocarcinoma and proximal polyposis of the stomach | AD | ||
| Desmoid disease, hereditary | AD | ||
| Adenomatous polyposis coli | AD | ||
| Gardner syndrome | AD | ||
| Brain tumor-polyposis syndrome 2 | AD | ||
| Hepatoblastoma, somatic | - | ||
| AR | 313700 | Androgen insensitivity | XLR |
| Androgen insensitivity, partial, with or without breast cancer | XLR | ||
| Prostate cancer, susceptibility to | AD, SM | ||
| Spinal and bulbar muscular atrophy of Kennedy | XLR | ||
| Hypospadias 1, X-linked | XLR | ||
| ARID1A | 603024 | Coffin-Siris syndrome 2 | AD |
| ASXL1 | 612990 | Bohring-Opitz syndrome | AD |
| Myelodysplastic syndrome, somatic | - | ||
| ATM | 607585 | Breast cancer, susceptibility to | AD, SM |
| Ataxia-telangiectasia | AR | ||
| ATR | 601215 | ?Cutaneous telangiectasia and cancer syndrome, familial | AD |
| Seckel syndrome 1 | AR | ||
| ATRX | 300032 | Mental retardation-hypotonic facies syndrome, X-linked | XLR |
| Alpha-thalassemia/mental retardation syndrome | XLD | ||
| Alpha-thalassemia myelodysplasia syndrome, somatic | - | ||
| BAP1 | 603089 | Tumor predisposition syndrome | AD |
| Kury-Isidor syndrome | AD | ||
| Uveal melanoma, susceptibility to, 2 | - | ||
| BRAF | 164757 | Cardiofaciocutaneous syndrome | AD |
| Adenocarcinoma of lung, somatic | - | ||
| Noonan syndrome 7 | AD | ||
| Colorectal cancer, somatic | - | ||
| Melanoma, malignant, somatic, | - | ||
| LEOPARD syndrome 3 | AD | ||
| BRCA1 | 113705 | Breast-ovarian cancer, familial, 1 | AD, MF |
| Pancreatic cancer, susceptibility to, 4 | - | ||
| Fanconi anemia, complementation group S | AR | ||
| BRCA2 | 600185 | Prostate cancer | AD, SM |
| Breast-ovarian cancer, familial, 2 | AD | ||
| Glioblastoma 3 | AR | ||
| Wilms tumor | AD, SM | ||
| Pancreatic cancer 2 | - | ||
| Breast cancer, male, susceptibility to | AD, SM | ||
| Fanconi anemia, complementation group D1 | AR | ||
| Medulloblastoma | AD, AR, SM | ||
| BTK | 300300 | Agammaglobulinemia, X-linked 1 | XLR |
| Isolated growth hormone deficiency, type III, with agammaglobulinemia | XLR | ||
| CBL | 165360 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | AD |
| ?Juvenile myelomonocytic leukemia | AD, SM | ||
| CCND1 | 168461 | Colorectal cancer, susceptibility to | AD, SM |
| von Hippel-Lindau syndrome, modifier of | AD | ||
| Multiple myeloma, susceptibility to | SM | ||
| CDH1 | 192090 | Prostate cancer, susceptibility to | AD, SM |
| Breast cancer, lobular | AD, SM | ||
| Blepharocheilodontic syndrome 1 | AD | ||
| Ovarian cancer, somatic | - | ||
| Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate | AD | ||
| Endometrial carcinoma, somatic | - | ||
| CDK4 | 123829 | Melanoma, cutaneous malignant, 3 | AD |
| CDK6 | 603368 | ?Microcephaly 12, primary, autosomal recessive | AR |
| CDKN1B | 600778 | Multiple endocrine neoplasia, type IV | AD |
| CDKN2A | 600160 | Melanoma and neural system tumor syndrome | AD |
| Melanoma-pancreatic cancer syndrome | AD | ||
| Melanoma, cutaneous malignant, 2 | AD | ||
| CHEK2 | 604373 | Prostate cancer, familial, susceptibility to | AD, SM |
| Colorectal cancer, susceptibility to | AD, SM | ||
| Breast cancer, susceptibility to | AD, SM | ||
| Osteosarcoma, somatic | - | ||
| Li-Fraumeni syndrome | - | ||
| CREBBP | 600140 | Menke-Hennekam syndrome 1 | AD |
| Rubinstein-Taybi syndrome 1 | AD | ||
| CSF1R | 164770 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | AR |
| Leukoencephalopathy, diffuse hereditary, with spheroids | AD | ||
| CTNNB1 | 116806 | Ovarian cancer, somatic | - |
| Colorectal cancer, somatic | - | ||
| Pilomatricoma, somatic | - | ||
| Neurodevelopmental disorder with spastic diplegia and visual defects | AD | ||
| Exudative vitreoretinopathy 7 | AD | ||
| Medulloblastoma, somatic | - | ||
| Hepatocellular carcinoma, somatic | - | ||
| DDR2 | 191311 | Spondylometaepiphyseal dysplasia, short limb-hand type | AR |
| Warburg-Cinotti syndrome | AD | ||
| EGFR | 131550 | Nonsmall cell lung cancer, susceptibility to | AD, SM |
| ?Inflammatory skin and bowel disease, neonatal, 2 | AR | ||
| Adenocarcinoma of lung, response to tyrosine kinase inhibitor in | AD, SM | ||
| Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in | AD, SM | ||
| ERBB2 | 164870 | ?Visceral neuropathy, familial, 2, autosomal recessive | AR |
| Ovarian cancer, somatic | - | ||
| Adenocarcinoma of lung, somatic | - | ||
| Glioblastoma, somatic | - | ||
| Gastric cancer, somatic | - | ||
| ERBB3 | 190151 | Visceral neuropathy, familial, 1, autosomal recessive | AR |
| ?Lethal congenital contractural syndrome 2 | AR | ||
| ?Erythroleukemia, familial, susceptibility to | AD | ||
| ERBB4 | 600543 | Amyotrophic lateral sclerosis 19 | AD |
| ERCC2 | 126340 | ?Cerebrooculofacioskeletal syndrome 2 | AR |
| Xeroderma pigmentosum, group D | AR | ||
| Trichothiodystrophy 1, photosensitive | AR | ||
| ESR1 | 133430 | Breast cancer, somatic | - |
| Migraine, susceptibility to | AD | ||
| Myocardial infarction, susceptibility to | - | ||
| Estrogen resistance | AR | ||
| EZH2 | 601573 | Weaver syndrome | AD |
| FANCA | 607139 | Fanconi anemia, complementation group A | AR |
| FANCD2 | 613984 | Fanconi anemia, complementation group D2 | AR |
| FANCI | 611360 | Fanconi anemia, complementation group I | AR |
| FBXW7 | 606278 | Developmental delay, hypotonia, and impaired language | - |
| FGFR1 | 136350 | Osteoglophonic dysplasia | AD |
| Trigonocephaly 1 | AD | ||
| Pfeiffer syndrome | AD | ||
| Encephalocraniocutaneous lipomatosis, somatic mosaic | - | ||
| Hypogonadotropic hypogonadism 2 with or without anosmia | AD | ||
| Jackson-Weiss syndrome | AD | ||
| Hartsfield syndrome | AD | ||
| FGFR2 | 176943 | Crouzon syndrome | AD |
| Saethre-Chotzen syndrome | AD | ||
| Craniofacial-skeletal-dermatologic dysplasia | AD | ||
| Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | AD | ||
| Gastric cancer, somatic | - | ||
| LADD syndrome | AD | ||
| Beare-Stevenson cutis gyrata syndrome | AD | ||
| Scaphocephaly, maxillary retrusion, and mental retardation | - | ||
| Apert syndrome | AD | ||
| Bent bone dysplasia syndrome | AD | ||
| Pfeiffer syndrome | AD | ||
| Jackson-Weiss syndrome | AD | ||
| FGFR3 | 134934 | Achondroplasia | AD |
| CATSHL syndrome | AD, AR | ||
| Thanatophoric dysplasia, type I | AD | ||
| Bladder cancer, somatic | - | ||
| Hypochondroplasia | AD | ||
| SADDAN | AD | ||
| Colorectal cancer, somatic | - | ||
| Crouzon syndrome with acanthosis nigricans | AD | ||
| Cervical cancer, somatic | - | ||
| Nevus, epidermal, somatic | - | ||
| Thanatophoric dysplasia, type II | AD | ||
| Spermatocytic seminoma, somatic | - | ||
| Muenke syndrome | AD | ||
| LADD syndrome | AD | ||
| FLT3 | 136351 | Leukemia, acute lymphoblastic, somatic | - |
| Leukemia, acute myeloid, reduced survival in, somatic | - | ||
| Leukemia, acute myeloid, somatic | - | ||
| FOXL2 | 605597 | Blepharophimosis, epicanthus inversus, and ptosis, type 1 | AD, AR |
| Blepharophimosis, epicanthus inversus, and ptosis, type 2 | AD, AR | ||
| Premature ovarian failure 3 | AD | ||
| GATA2 | 137295 | Myelodysplastic syndrome, susceptibility to | - |
| Leukemia, acute myeloid, susceptibility to | AD, SM | ||
| Emberger syndrome | AD | ||
| Immunodeficiency 21 | AD | ||
| GNA11 | 139313 | Hypocalciuric hypercalcemia, type II | AD |
| Hypocalcemia, autosomal dominant 2 | AD | ||
| GNAQ | 600998 | Capillary malformations, congenital, 1, somatic, mosaic | - |
| Sturge-Weber syndrome, somatic, mosaic | - | ||
| GNAS | 139320 | Pseudohypoparathyroidism Ic | AD |
| Osseous heteroplasia, progressive | AD | ||
| Pseudopseudohypoparathyroidism | AD | ||
| Pseudohypoparathyroidism Ia | AD | ||
| Pseudohypoparathyroidism Ib | AD | ||
| Pituitary adenoma 3, multiple types, somatic | - | ||
| ACTH-independent macronodular adrenal hyperplasia | SM | ||
| McCune-Albright syndrome, somatic, mosaic | - | ||
| H3-3A | 601128 | Bryant-Li-Bhoj neurodevelopmental syndrome 1 | AD |
| HNF1A | 142410 | Diabetes mellitus, insulin-dependent | AR |
| Diabetes mellitus, insulin-dependent, 20 | - | ||
| MODY, type III | AD | ||
| Diabetes mellitus, noninsulin-dependent, 2 | AD | ||
| Hepatic adenoma, somatic | - | ||
| Renal cell carcinoma | - | ||
| HRAS | 190020 | Thyroid carcinoma, follicular, somatic | - |
| Spitz nevus or nevus spilus, somatic | - | ||
| Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic | - | ||
| Bladder cancer, somatic | - | ||
| Costello syndrome | AD | ||
| Nevus sebaceous or woolly hair nevus, somatic | - | ||
| Congenital myopathy with excess of muscle spindles | AD | ||
| IDH1 | 147700 | Glioma, susceptibility to, somatic | - |
| IDH2 | 147650 | D-2-hydroxyglutaric aciduria 2 | - |
| JAK1 | 147795 | Autoinflammation, immune dysregulation, and eosinophilia | AD |
| JAK2 | 147796 | Erythrocytosis, somatic | - |
| Polycythemia vera, somatic | - | ||
| Leukemia, acute myeloid, somatic | - | ||
| Thrombocythemia 3 | AD, SM | ||
| Budd-Chiari syndrome, somatic | - | ||
| Myelofibrosis, somatic | - | ||
| JAK3 | 600173 | SCID, autosomal recessive, T-negative/B-positive type | AR |
| KDR | 191306 | Hemangioma, capillary infantile, susceptibility to | AD |
| Hemangioma, capillary infantile, somatic | - | ||
| KIT | 164920 | Gastrointestinal stromal tumor, familial | AD, IC |
| Germ cell tumors, somatic | - | ||
| Piebaldism | AD | ||
| Leukemia, acute myeloid, somatic | - | ||
| Mastocytosis, systemic, somatic | - | ||
| Mastocytosis, cutaneous | AD | ||
| KMT2A | 159555 | Wiedemann-Steiner syndrome | AD |
| KMT2C | 606833 | Kleefstra syndrome 2 | AD |
| KMT2D | 602113 | Kabuki syndrome 1 | AD |
| KNSTRN | 614718 | ?Roifman-Chitayat syndrome, digenic | DR |
| KRAS | 190070 | Arteriovenous malformation of the brain, somatic | - |
| Gastric cancer, somatic | - | ||
| Oculoectodermal syndrome, somatic | - | ||
| RAS-associated autoimmune leukoproliferative disorder | AD | ||
| Gastric cancer, somatic | - | ||
| Pancreatic carcinoma, somatic | - | ||
| Lung cancer, somatic | - | ||
| Cardiofaciocutaneous syndrome 2 | AD | ||
| Bladder cancer, somatic | - | ||
| Leukemia, acute myeloid, somatic | - | ||
| Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic | - | ||
| Breast cancer, somatic | - | ||
| Noonan syndrome 3 | AD | ||
| MAP2K1 | 176872 | Cardiofaciocutaneous syndrome 3 | AD |
| Melorheostosis, isolated, somatic mosaic | - | ||
| MAP2K2 | 601263 | Cardiofaciocutaneous syndrome 4 | AD |
| MAPK1 | 176948 | Noonan syndrome 13 | AD |
| MAX | 154950 | Pheochromocytoma, susceptibility to | AD |
| MDM4 | 602704 | ?Bone marrow failure syndrome 6 | AD |
| MED12 | 300188 | Opitz-Kaveggia syndrome | XLR |
| Lujan-Fryns syndrome | XLR | ||
| Ohdo syndrome, X-linked | XLR | ||
| Hardikar syndrome | XLD | ||
| MEN1 | 613733 | Multiple endocrine neoplasia 1 | AD |
| MET | 164860 | Hepatocellular carcinoma, childhood type, somatic | - |
| ?Deafness, autosomal recessive 97 | AR | ||
| Osteofibrous dysplasia, susceptibility to | AD | ||
| Renal cell carcinoma, papillary, 1, familial and somatic | - | ||
| ?Arthrogryposis, distal, type 11 | - | ||
| MLH1 | 120436 | Mismatch repair cancer syndrome 1 | AR |
| Muir-Torre syndrome | AD | ||
| Colorectal cancer, hereditary nonpolyposis, type 2 | - | ||
| MPL | 159530 | Myelofibrosis with myeloid metaplasia, somatic | - |
| Thrombocytopenia, congenital amegakaryocytic | AR | ||
| Thrombocythemia 2 | AD, SM | ||
| MRE11 | 600814 | Ataxia-telangiectasia-like disorder 1 | AR |
| MSH2 | 609309 | Muir-Torre syndrome | AD |
| Colorectal cancer, hereditary nonpolyposis, type 1 | AD | ||
| Mismatch repair cancer syndrome 2 | AR | ||
| MSH6 | 600678 | Colorectal cancer, hereditary nonpolyposis, type 5 | AD |
| Endometrial cancer, familial | AD, SM | ||
| Mismatch repair cancer syndrome 3 | AR | ||
| MTOR | 601231 | Focal cortical dysplasia, type II, somatic | - |
| Smith-Kingsmore syndrome | AD | ||
| MYC | 190080 | Burkitt lymphoma, somatic | - |
| MYCN | 164840 | Feingold syndrome 1 | AD |
| MYD88 | 602170 | Macroglobulinemia, Waldenstrom, somatic | - |
| Immunodeficiency 68 | AR | ||
| NBN | 602667 | Aplastic anemia | - |
| Leukemia, acute lymphoblastic | - | ||
| Nijmegen breakage syndrome | AR | ||
| NF1 | 613113 | Watson syndrome | AD |
| Leukemia, juvenile myelomonocytic | AD, SM | ||
| Neurofibromatosis, type 1 | AD | ||
| Neurofibromatosis, familial spinal | AD | ||
| Neurofibromatosis-Noonan syndrome | AD | ||
| NF2 | 607379 | Neurofibromatosis, type 2 | AD |
| Schwannomatosis, somatic | - | ||
| Meningioma, NF2-related, somatic | - | ||
| NFE2L2 | 600492 | Immunodeficiency, developmental delay, and hypohomocysteinemia | AD |
| NOTCH1 | 190198 | Adams-Oliver syndrome 5 | AD |
| Aortic valve disease 1 | AD | ||
| NOTCH2 | 600275 | Alagille syndrome 2 | AD |
| Hajdu-Cheney syndrome | AD | ||
| NOTCH3 | 600276 | ?Myofibromatosis, infantile 2 | AD |
| Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 | AD | ||
| Lateral meningocele syndrome | AD | ||
| NRAS | 164790 | Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic | - |
| Colorectal cancer, somatic | - | ||
| Neurocutaneous melanosis, somatic | - | ||
| ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | - | ||
| Noonan syndrome 6 | AD | ||
| Melanocytic nevus syndrome, congenital, somatic | - | ||
| Thyroid carcinoma, follicular, somatic | - | ||
| Epidermal nevus, somatic | - | ||
| NTRK1 | 191315 | Insensitivity to pain, congenital, with anhidrosis | AR |
| NTRK2 | 600456 | Developmental and epileptic encephalopathy 58 | AD |
| Obesity, hyperphagia, and developmental delay | AD | ||
| PALB2 | 610355 | Pancreatic cancer, susceptibility to, 3 | - |
| Fanconi anemia, complementation group N | - | ||
| Breast cancer, susceptibility to | AD, SM | ||
| PDGFRA | 173490 | Hypereosinophilic syndrome, idiopathic, resistant to imatinib | IC, SM |
| Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial | - | ||
| PDGFRB | 173410 | Myeloproliferative disorder with eosinophilia | AD |
| Myofibromatosis, infantile, 1 | AD | ||
| Premature aging syndrome, Penttinen type | AD | ||
| Basal ganglia calcification, idiopathic, 4 | AD | ||
| Kosaki overgrowth syndrome | AD | ||
| PIK3CA | 171834 | Keratosis, seborrheic, somatic | - |
| Ovarian cancer, somatic | - | ||
| CLAPO syndrome, somatic | - | ||
| Macrodactyly, somatic | - | ||
| CLOVE syndrome, somatic | - | ||
| Gastric cancer, somatic | - | ||
| Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic | - | ||
| Colorectal cancer, somatic | - | ||
| Nevus, epidermal, somatic | - | ||
| Breast cancer, somatic | - | ||
| Cerebral cavernous malformations 4, somatic | - | ||
| Cowden syndrome 5 | - | ||
| Hepatocellular carcinoma, somatic | - | ||
| Nonsmall cell lung cancer, somatic | - | ||
| PIK3R1 | 171833 | ?Agammaglobulinemia 7, autosomal recessive | AR |
| Immunodeficiency 36 | AD | ||
| SHORT syndrome | AD | ||
| PMS2 | 600259 | Colorectal cancer, hereditary nonpolyposis, type 4 | - |
| Mismatch repair cancer syndrome 4 | AR | ||
| POLE | 174762 | Colorectal cancer, susceptibility to, 12 | AD |
| IMAGE-I syndrome | AR | ||
| FILS syndrome | AR | ||
| PPP2R1A | 605983 | Mental retardation, autosomal dominant 36 | AD |
| PTCH1 | 601309 | Basal cell carcinoma, somatic | - |
| Holoprosencephaly 7 | AD | ||
| Basal cell nevus syndrome | AD | ||
| PTEN | 601728 | Cowden syndrome 1 | AD |
| Lhermitte-Duclos syndrome | AD | ||
| Macrocephaly/autism syndrome | AD | ||
| Glioma susceptibility 2 | - | ||
| Meningioma | AD | ||
| Prostate cancer, somatic | - | ||
| PTPN11 | 176876 | Leukemia, juvenile myelomonocytic, somatic | - |
| LEOPARD syndrome 1 | AD | ||
| Metachondromatosis | AD | ||
| Noonan syndrome 1 | AD | ||
| RAC1 | 602048 | Mental retardation, autosomal dominant 48 | AD |
| RAD50 | 604040 | Nijmegen breakage syndrome-like disorder | AR |
| RAD51 | 179617 | Breast cancer, susceptibility to | AD, SM |
| Mirror movements 2 | AD | ||
| Fanconi anemia, complementation group R | AD | ||
| RAD51C | 602774 | Fanconi anemia, complementation group O | AR |
| Breast-ovarian cancer, familial, susceptibility to, 3 | - | ||
| RAD51D | 602954 | Breast-ovarian cancer, familial, susceptibility to, 4 | - |
| RAF1 | 164760 | Noonan syndrome 5 | AD |
| LEOPARD syndrome 2 | - | ||
| Cardiomyopathy, dilated, 1NN | AD | ||
| RB1 | 614041 | Bladder cancer, somatic | - |
| Retinoblastoma, trilateral | AD, SM | ||
| Small cell cancer of the lung, somatic | - | ||
| Osteosarcoma, somatic | - | ||
| Retinoblastoma | AD, SM | ||
| RBM10 | 300080 | TARP syndrome | XLR |
| RET | 164761 | Hirschsprung disease, susceptibility to, 1 | AD |
| Multiple endocrine neoplasia IIA | AD | ||
| Medullary thyroid carcinoma | AD | ||
| Pheochromocytoma | AD | ||
| Multiple endocrine neoplasia IIB | AD | ||
| Hirschsprung disease, protection against | AD | ||
| Central hypoventilation syndrome, congenital | AD | ||
| RHOA | 165390 | Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic | - |
| RIT1 | 609591 | Noonan syndrome 8 | AD |
| RNF43 | 612482 | Sessile serrated polyposis cancer syndrome | AD |
| SETD2 | 612778 | Luscan-Lumish syndrome | AD |
| Rabin-Pappas syndrome | - | ||
| Intellectual developmental disorder, autosomal dominant 70 | - | ||
| SF3B1 | 605590 | Myelodysplastic syndrome, somatic | - |
| SLX4 | 613278 | Fanconi anemia, complementation group P | AR |
| SMAD4 | 600993 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | AD |
| Pancreatic cancer, somatic | - | ||
| Myhre syndrome | AD | ||
| Polyposis, juvenile intestinal | AD | ||
| SMARCA4 | 603254 | Coffin-Siris syndrome 4 | AD |
| Rhabdoid tumor predisposition syndrome 2 | AD | ||
| SMARCB1 | 601607 | Coffin-Siris syndrome 3 | AD |
| Rhabdoid tumor predisposition syndrome 1 | AD | ||
| Schwannomatosis-1, susceptibility to | AD | ||
| Rhabdoid tumors, somatic | - | ||
| SMO | - | Basal cell carcinoma, somatic | - |
| Curry-Jones syndrome, somatic mosaic | - | ||
| Pallister-Hall-like syndrome | AR | ||
| SPOP | 602650 | Nabais Sa-de Vries syndrome, type 2 | AD |
| Nabais Sa-de Vries syndrome, type 1 | AD | ||
| SRC | 190090 | Colon cancer, advanced, somatic | - |
| ?Thrombocytopenia 6 | AD | ||
| STAT3 | 102582 | Hyper-IgE recurrent infection syndrome | AD |
| Autoimmune disease, multisystem, infantile-onset, 1 | AD | ||
| STK11 | 602216 | Peutz-Jeghers syndrome | AD |
| Melanoma, malignant, somatic | - | ||
| Testicular tumor, somatic | - | ||
| Pancreatic cancer, somatic | - | ||
| TERT | 187270 | Melanoma, cutaneous malignant, 9 | - |
| Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 | AD | ||
| Dyskeratosis congenita, autosomal dominant 2 | AD, AR | ||
| Leukemia, acute myeloid | AD, SM | ||
| Dyskeratosis congenita, autosomal recessive 4 | AD, AR | ||
| TP53 | 191170 | Hepatocellular carcinoma, somatic | - |
| Bone marrow failure syndrome 5 | AD | ||
| Basal cell carcinoma 7 | AD | ||
| Nasopharyngeal carcinoma, somatic | - | ||
| Choroid plexus papilloma | AD | ||
| Glioma susceptibility 1 | AD, SM | ||
| Pancreatic cancer, somatic | - | ||
| Breast cancer, somatic | - | ||
| Li-Fraumeni syndrome | AD | ||
| Adrenocortical carcinoma, pediatric | AD | ||
| Osteosarcoma | SM | ||
| Colorectal cancer | AD, SM | ||
| TSC1 | 605284 | Lymphangioleiomyomatosis | - |
| Focal cortical dysplasia, type II, somatic | - | ||
| Tuberous sclerosis-1 | AD | ||
| TSC2 | 191092 | ?Focal cortical dysplasia, type II, somatic | - |
| Lymphangioleiomyomatosis, somatic | - | ||
| Tuberous sclerosis-2 | AD | ||
| TSHR | 603372 | Hyperthyroidism, nonautoimmune | AD |
| Hypothyroidism, congenital, nongoitrous, 1 | AR | ||
| Hyperthyroidism, familial gestational | AD | ||
| VHL | 608537 | Pheochromocytoma | AD |
| von Hippel-Lindau syndrome | AD | ||
| Renal cell carcinoma, somatic | - | ||
| Erythrocytosis, familial, 2 | AR |
COMMON SYNDROMES AND DISORDERS COVERED
- Adrenal cancer
- Biliary tract cancer
- Bone marrow cancer
- Breast cancer
- Colon cancer
- Endometrial cancer
- Esophageal cancer
- Gastrointestinal stromal tumor
- Glioma
- Hepatic cancer
- Lung cancer
- Lymphoma cancer
- Meningioma
- Ovarian cancer
- Pancreatic cancer
- Prostate cancer
- Renal cancer
- Skin cancer
- Testicular cancer
- Thyroid cancer
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