| Hereditary Breast Cancer and ovarian cancer syndrome (113705) | BRCA1 (17q21) | Breast cancer, high risk (50–80%) |
| Ovarian cancer, high risk (40–50%) |
| Hereditary Breast Cancer and ovarian cancer syndrome (600185) | BRCA2 (13q12.3) | Breast cancer, high risk (50–70%) |
| Ovarian cancer, intermediate risk (10%) |
| Prostate cancer |
| Pancreatic cancer |
| Melanoma |
| CHEK2 mutations (Li–Fraumeni 2 syndrome?) | CHEK2 (22q12.1) | Breast cancer, intermediate risk (∼twofold) |
| Sarcomas |
| Brain tumours |
| Other FANC genes (114480, 610355, 607139, 600901, 605882) | PALB2/FANCN (16p12) | PALB2/FANCN and BRIP1/FANCJ: moderate risk of breast cancer development |
| FANCA (16q24.3) | The other FANC genes: low risk of breast cancer development |
| FANCE (6p22–p21) | |
| BRIP1/FANCJ (17q22) | |
| Familial-linitis-plastic type gastric cancer and lobular breast carcinomas syndrome (192090) | CDH1 (16q22.1) | Gastric cancer |
| Lobular breast cancer |
| Louis–Bar syndrome (208900) | ATM (11q22.3) | Lymphoma |
| Cerebellar ataxia |
| Immune deficiency |
| Glioma |
| Medulloblastoma |
| Breast cancer |
| Li–Fraumeni syndrome (151623) | TP53 (17p13.1) | High penetrance for breast cancers at young age |
| Risk of soft-tissue sarcomas and osteosarcomas, brain tumours, leukaemia and adrenocortical carcinoma |
| Cowden syndrome (158350) | PTEN (10q23.31) | Increased risk of developing neoplasms (breast cancer, thyroid carcinoma, endometrial carcinoma and others) |
| Hamartomatous polyps of the gastrointestinal tract |
| Mucocutaneous lesions |
| Bannayan–Riley–Rivalcaba syndrome (153480) | PTEN (10q23.31) | Breast cancer |
| Meningioma |
| Follicular cells tumours of the thyroid |
| Peutz–Jeghers syndrome (175200) | STK11 (19p13.3) | Melanocytic macules of the lips, buccal mucosa and digits |
| Multiple gastrointestinal hamartomatous polyps |
| Increased risk of various neoplasms (breast, testis, pancreas and cervix) |
| Lynch cancer family syndrome II (114400) | MSH2 (2p22–p21), MSH3 (5q11–q12), MSH6 (2P16), MLH1 (3p21.3), PMS1 (2q31–q33), PMS2 (7p22) | Increased risk of endometrial carcinoma and colorectal carcinoma |
| High risk of multiple primary malignant neoplasms, including breast, ovarian, gastrointestinal and genitourinary carcinomas, sarcomas, glioblastoma and leukaemia |