Hereditary susceptibility to breast cancer occurs in several other rare genetic
conditions. Breast cancer is the most common adult manifestation of Li-Fraumeni
syndrome, a multiple cancer syndrome caused by germline mutations in the TP53
gene. Breast cancer also is the most frequent malignancy diagnosed in Cowden
syndrome, a condition with germline mutations in the PTEN gene. Both benign and
malignant breast tumors occur in Muir-Torre syndrome, a condition related to
hereditary nonpolyposis colon cancer (HNPCC), characterized by germline
mutations in the DNA mismatch repair genes MSH2 and MLH1. Patients with
Peutz-Jeghers syndrome display abnormal pigmentation, gastrointestinal polyps,
and, if they are women, they are at increased risk for breast cancer and they
experience early onset bilateral disease.
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