Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients

Purpose We investigated the prevalence of BRCA1/2 small mutations and large genomic rearrangements in high risk breast cancer patients who attended a genetic counseling clinic. Methods In total 478 patients were assessed for BRCA1/2 mutations by direct sequencing, of whom, 306 were identified as non...

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