Article
Prevalence of BRCA1 and BRCA2 pathogenic variants in a large, unselected breast cancer cohort.
International journal of cancer - 1 Mar 2019
Li Jingmei, Wen Wei Xiong, Eklund Martin, Kvist Anders, Eriksson Mikael, Christensen Helene Nordahl, Torstensson Astrid, Bajalica-Lagercrantz Svetlana, Dunning Alison M, Decker Brennan, Allen Jamie, Luccarini Craig, Pooley Karen, Simard Jacques, Dorling Leila, Easton Douglas F, Teo Soo-Hwang, Hall Per, Borg Åke, Grönberg Henrik, Czene Kamila
Abstract excerpt
Breast cancer patients with BRCA1/2-driven tumors may benefit from targeted therapy. It is not clear whether current BRCA screening guidelines are effective at identifying these patients. The purpose of our study was to evaluate the prevalence of inherited BRCA1/2 pathogenic variants in a large, clinically representative breast cancer cohort and to estimate the proportion of BRCA1/2 carriers not detected by...
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