MEDizzy
MEDizzy
USMLE
Cancer epidemiology and genetics
During a routine office visit, a 49-year-old woman of Ashkenazi Jewish descent expresses concern about her risk of cancer. She reports that her younger sister has just been diagnosed with breast cancer. In addition, the patient tells you that her father was recently found to have an adenomatous polyp on colonoscopy. Her mother died in an automobile accident at an early age; she was otherwise healthy. Which of the following statements about factors that predispose to cancer is true?
Explanation
ExplanationB) Approximately one third of retinoblastomas occur in an autosomal dominant pattern with high penetrance. In contrast, familial colon cancer without multiple polyposis may be caused by germline mutations in one of the DNA repair genes: MSH2, MLH1, MSH6, PMS1, or PMS2. BRCA1 and BRCA2 account for most of the hereditary breast cancers in young women; carriers of BRCA1 are also predisposed to ovarian cancer of early onset. Hereditary prostate cancer, which accounts for 5% to 10% of all cases, is primarily associated with disease of early onset. Major susceptibility loci for hereditary prostate cancer were recently mapped to chromosome 1 and the X chromosome.
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