Table 1.
Hereditary Syndromes Leading to Cancer
| Syndrome | Cancer | Gene |
|---|---|---|
| Retinoblastoma | Retinoblastoma* | RB1 |
| MEN2A and MEN2B | Medullary thyroid | RET |
| Li-Fraumeni syndrome | Sarcomas, breast, brain, leukemia, adrenal cortical, melanoma | TP53 (or p53) |
| Hereditary breast and ovarian cancer | Breast, ovarian, prostate | BRCA1, BRCA2 |
| FAP | Colorectal, hepatoblastoma, papillary thyroid, pancreatic, bile duct, adrenal | APC |
| MYH-associated polyposis | Colorectal | MYH |
| Hereditary melanoma/FAMMM | Melanoma | CDKN2A† (p16, MST1) |
| HNPCC (Lynch syndrome) | Colorectal, endometrial, ovarian | MLH1, MSH2, MSH6 |
| Cowden syndrome | Thyroid, breast, uterine | PTEN |
| Peutz-Jeghers syndrome | Ovarian, breast, uterine, lung, colorectal, pancreatic | STK11 |
| Juvenile polyposis syndrome | Colorectal, cancer in other areas of the digestive system | MADH4, BMPR1A |
| Von Hippel-Lindau syndrome | Kidney | VHL |
| HPRCC | Kidney | C-MET |
| Birt-Hogg Dube syndrome | Kidney | BHD |
| HLRC | Kidney | FH |
| Ataxia telangiectasia | Leukemia, lymphoma, melanoma, sarcoma, breast, ovarian, stomach | ATM |
| Wilms tumor | Wilms tumor | WT1 |
Abbreviations: MEN, multiple endocrine neoplasia; FAP, familial adenomatous polyposis; FAMMM, familial atypical multiple mole melanoma; HNPCC, hereditary nonpolyposis colorectal cancer; HPRC, hereditary papillary renal (cell) carcinoma; HLRC, hereditary leiomyomatosis and renal (cell) carcinoma.
*Children with hereditary retinoblastoma have an increased risk of developing osteosarcoma, other sarcomas, leukemia, lymphoma, melanoma, lung cancer, and bladder cancer as they age.
†Testing for CDKN2A is currently only recommended in a research setting.