| | Syndrome | Gene or locus
(chromosomal location) | Neoplasm | Lifetime risk |
| | Genes with high-penetrance mutations |
| | Hereditary breast/ovarian cancer syndrome | BRCA1 (17q12–21) | Female breast, ovarian cancer | 40–80% | | BRCA2 (13q12-13) | Male and female breast, ovarian, prostate, and pancreatic cancer | 20–85% | | Li-Fraumeni syndrome | TP53 (17p13.1) | Breast cancer, sarcomas, leukemia, brain tumours, adrenocortical carcinoma, lung cancers | 56–90% | | Cowden syndrome | PTEN (10q23.3) | Breast, thyroid, endometrial cancer
Other: benign hamartomas, macrocephaly | 25–50% | | Peutz-Jeghers syndrome | STK11 (19p13.3) | Breast, ovarian, cervical, uterine, testicular, small bowel, and colon carcinoma
Other: Hamartomatous polyps of the small intestine, mucocutaneous pigmentation | 32–54% | | Hereditary gastric cancer | CDH1 (16q22.1) | Hereditary diffuse gastric, lobular breast, colorectal cancer | 60% |
| | Moderate-penetrance mutations |
| | ATM- related | ATM (11q22.3) | Breast and ovarian cancers | 15–20% | | CHEK2- related | CHEK2 (22q12.1) | Breast, colorectal, ovarian, bladder cancers | 25–37% | | PALB2-related | PALB2 (16p12.1) | Breast, pancreatic, ovarian cancer, male breast cancers | 20–40% | | Moderate risk breast/ovarian cancer | BARD1 (2q34-q35), BRIP1 (17q22–q24), MRE11A (11q21), NBN (8q21), RAD50 (5q31), RAD51C (17q25.1), XRCC2 (7q36.1), RAD51D (17q11), ABRAXAS (4q21.23) | Breast and ovarian cancers | variable |
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