Linking distant relatives with BRCA gene mutations: potential for cost savings.

摘要: Thousands of individuals have undergone mutational analysis BRCA1 and BRCA2. The Ohio State University Clinical Cancer Genetics program has identified 466 from 289 families with a mutation in or Excluding Ashkenazi Jewish founder mutations, we observed 9 deleterious BRCA mutations five more times ostensibly unrelated another 13 3-4 families. We hypothesized that some the rarer recurrent our population were due to different branches same family being tested independently without knowledge previous testing relatives. examined 90 pedigrees for seen three shared reported medical history surnames. Familial links made four instances out total 22 despite fact not aware member had been tested. As undergo testing, propose this phenomenon will become common. Being unaware only affects risk assessment but also likely increases costs associated genetic subsequent cancer screening many cases.