Genea | Transcript | Breast | Ovarian | Colorectal | Endometrial | Melanoma | Pancreatic | Gastric | Prostate | Endocrine | Other | Associated Syndrome |
---|---|---|---|---|---|---|---|---|---|---|---|---|
High Risk (***) | ||||||||||||
 APC | NM_000038.5 |  |  | *** |  |  | * | * |  | * | * | Familiar Adenomatus Polyposis (FAP) |
 BMPR1A | NM_004329.2 |  |  | *** |  |  |  | ** |  |  | * | Juvenile Polyposis Syndrome (JPS) |
 BRCA1 | NM_007294.2 | *** | *** |  |  |  | * |  | ** |  | * | Hereditary Breast and Ovarian Cancer Syndrome (HBOC) |
 BRCA2 | NM_000059.3 | *** | ** |  |  | * | * |  | ** |  | * | Hereditary Breast and Ovarian Cancer Syndrome (HBOC) |
 CDH1 | NM_004360.4 | *** |  |  |  |  |  | *** |  |  |  | Hereditary Diffuse Gastric Cancer (HDGC) |
 CDK4 | NM_000075.3 |  |  |  |  | *** |  |  |  |  |  |  |
 CDKN2A | NM_000077.4 |  |  |  |  | *** | * |  |  |  |  | Familial Atypical Multiple Mole Melanoma Syndrome, Melanoma-Pancreatic Cancer Syndrome |
 EPCAM | NM_002354.2 | * | * | *** | ** |  | * | * | * |  | * | Lynch Syndrome (LS) |
 MEN1 | NM_000244.3 |  |  |  |  |  | * |  |  | *** |  | Multiple Endocrine Neoplasia Type 1 |
 MLH1 | NM_000249.3 | * | ** | *** | ** |  | * | * | * |  |  | Lynch Syndrome (LS) |
 MSH2 | NM_000251.2 | * | ** | *** | ** |  | * | * | * |  |  | Lynch Syndrome (LS) |
 MSH6 | NM_000179.2 | * | * | *** | *** |  | * | * | * |  |  | Lynch Syndrome (LS) |
 MUTYH | NM_001128425.1 | * |  | *** | * |  |  | * |  |  | * | MUTYH-associated polyposis (MAP) |
 PALB2 | NM_024675.3 | *** | * |  |  |  | * |  | * |  |  | Fanconi anemia (FA-N) (recessive) |
 PMS2 | NM_000535.5 |  | * | *** | *** |  | * | * | * |  | * | Lynch Syndrome (LS) |
 PTEN | NM_000314.4 | *** |  | * | * | * |  |  |  | ** | ** | Cowden Syndrome (CS) |
 RET | NM_020975.4 |  |  |  |  |  |  |  |  | *** |  | Multiple Endocrine Neoplasia Type 2 |
 SMAD4 | NM_005359.5 |  |  | *** |  |  |  | ** |  |  |  | Juvenile Polyposis Syndrome (JPS) |
 STK11 | NM_000455.4 | *** | * | ** | * |  | ** | ** |  |  |  | Peutz–Jeghers Syndrome (PJS) |
 TP53 | NM_000546.5 | *** | * | ** | * | * | ** | ** | * |  |  | Li–Fraumeni Syndrome (LFS) |
 VHL | NM_000551.3 |  |  |  |  |  | * |  |  | * | *** | Von Hippel-Lindau Syndrome |
Moderate Risk (**) | ||||||||||||
 ATM | NM_000051.3 | ** |  |  |  |  | * |  | * |  |  | Ataxia-Telangiectasia (recessive) |
 BRIP1 | NM_032043.2 | * | ** |  |  |  |  |  | * |  |  | Fanconi anemia (FA-J) (recessive) |
 CHEK2 | NM_007194.3 | ** | * | * |  |  |  |  | * |  |  |  |
 NBN | NM_002485.4 | ** |  |  |  |  |  |  | * |  |  | Nijmegen Breakage Syndrome (NBS) |
 RAD51C | NM_058216.2 | * | ** |  |  |  |  |  |  |  |  | Fanconi anemia (FA-O) (recessive) |
 RAD51D | NM_002878.3 | * | ** |  |  |  |  |  |  |  |  | Fanconi anemia (FA) (recessive) |
Low risk/insufficient data (*) | ||||||||||||
 BARD1 | NM_000465.2 | * | * |  |  |  |  |  |  |  |  |  |
 BLM | NM_000057.2 | * |  | * |  |  |  |  |  |  |  | Bloom Syndrome (BS) |
 CHEK1 | NM_001114121.2 | * |  |  |  |  |  |  |  |  |  |  |
 ABRAXAS1 (FAM175A) | NM_139076.2 | * |  |  |  |  |  |  |  |  |  |  |
 MRE11 (MRE11A) | NM_005591.3 | * |  |  |  |  |  |  |  |  |  | Ataxia-Telangiectasia-like disorder |
 NF1 | NM_000267.3 | * |  |  |  |  |  |  |  | * | * | Neurofibromatosis type 1 |
 RAD50 | NM_005732.3 | * |  |  |  |  |  |  |  |  |  | Nijmegen breakage syndrome-like disorder (NBSLD) |
 RAD51B | NM_133509.3 | * |  |  |  |  |  |  |  |  |  |  |
 XRCC2 | NM_005431.1 | * |  |  |  |  |  |  |  |  |  |  |