Τετάρτη 18 Μαΐου 2016

Targeted sequencing of BRCA1 and BRCA2 across a large unselected breast cancer cohort suggests one third of mutations are somatic

We performed targeted sequencing of BRCA1/2 in an unselected cohort of patients diagnosed with primary breast cancer within a population without strong founder mutations. 11% of cases harbored a germline or somatic BRCA1/2 mutation, and the ratio of germline versus somatic mutation was 2:1. This has implications for treatment, genetic counseling, and interpretation of tumor-only testing.



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