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Identification of candidate cancer predisposing variants by performing wholeexome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families

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In the majority of familial breast cancer (BC) families, the etiology of the disease remains unresolved. To identify missing BC heritability resulting from relatively rare variants (minor allele frequency ≤ 1%), we have performed whole exome sequencing followed by variant analysis in a virtual panel of 492 cancer-associated genes on BC patients from BRCA1 and BRCA2 negative families with elevated BC risk. | Identification of candidate cancer predisposing variants by performing wholeexome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families

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