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Understanding Cancer Series

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  • Posted: 01/28/2005
  • Reviewed: 09/01/2006

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Slide 48


Other Genetic Conditions Linked to Increased Cancer Risk

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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.

Other Genetic Conditions Linked to Increased Cancer Risk