Association between family history, mutation locations, and prevalence of BRCA1 or 2 mutations in ovarian cancer patients

• DOI: 10.1002/cam4.2000
• Publication Date: 2019-03-01T08:34:38Z
• Authors: Christian F. Singer; Yen Y. Tan; Daniela Muhr; Christine Rappaport; Daphne Gschwantle...; Christoph Grimm; Stephan Polterauer; Georg Pfeiler; Andreas Berger; Muy‐Kheng M. Tea
• Keywords: BRCA Mutation

Abstract We investigated the prevalence of germline BRCA mutations in a population‐based cohort Austrian women diagnosed with ovarian cancer and its association family history cancer. prospectively collected pedigrees 443 patients who had been tested for presence or 2 correlated familial breast burden disease onset. The probability carrying g mutation without is 14% (95% CI 9%‐22%), as opposed to 45% 31%‐59%) at least one member cancer, 47% 40%‐54%) if other relatives have developed If both are family, BRCA1 60% 50%‐68%). families only commonly located Ovarian Cancer Cluster Regions when compared ( P = 0.001, 0.020, respectively). While carriers do not significantly different age onset than general an earlier BRCA2 0.002) 0.006). rate low. However, additional members affected, considerably higher previously reported.