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©2013 UpToDate ® Print Email Major genes associated with breast cancer Gene Associated syndrome Gene frequency Other cancers BRCA1 HBOC Rare Ovary, fallopian tube, male breast, pancreas, prostate*, possibly cervix and uterus BRCA2 HBOC Rare Ovary, fallopian tube, male breast, pancreas, prostate*, possibly biliary tract, stomach, and melanoma p53 Li-Fraumeni Very rare Soft tissue and bone sarcomas, leukemia, brain, adrenocortical malignancies PTEN Cowden Very rare Hamartomas (papillomas of the lips and mucous membranes, acral skin keratoses, trichillemmomas of skin), uterus, non-medullary thyroid CDH1 Hereditary Diffuse Gastric Cancer Syndrome Rare Lobular breast cancer, diffuse gastric cancer STK11 Peutz-Jeghers Very rare Hamartomatous gastrointestinal tract polyps, small bowel, stomach, colorectal, pancreas, lung, uterus, ovary PALB2 Hereditary pancreatic cancer Rare Pancreatic cancer, Fanconi anemia GI: gastrointestinal; HBOC: hereditary breast ovarian cancer syndrome. * Men with BRAC2 mutations have a five- to sevenfold increased risk of prostate cancer; magnitude of risk is less clear with BRAC1.