Hereditary breast cancer syndromes
| Syndrome | Gene | Breast cancer risk | Other cancer risks | Incidence |
|---|---|---|---|---|
| Hereditary breast and ovarian cancer | BRCA1 BRCA2 | 43%17–85%8 | Ovarian, male breast, prostate, pancreatic, melanoma (BRCA2) | 1:400-8007,18 |
| Cowden | PTEN | 77%-85%11,12,19 | Uterine, renal cell, colorectal, thyroid, melanoma | 1:200,00013 |
| Li-Fraumeni | TP53 | Undefined, but > 20% | Sarcoma, brain, adrenocortical carcinoma, others. Up to 100% all-site lifetime cancer risk | 1:20,00027 |
| Peutz-Jeghers | STK11 | 45%-54%14,15 | GI tract, pancreas, lung, gonadal, adenoma malignum of the cervix | 1 in 50,000-200,00016 |
| Hereditary diffuse gastric cancer | CDH1 | 39%-52%a,9,10 | Gastric (diffuse) | Unknown; 1%-3% of gastric cancers20 |
↵a Lobular breast cancer