The contribution of large genomic rearrangements in BRCA1 and BRCA2 to South African familial breast cancer.

Nerina C van der MerweJaco OosthuizenMagdalena TheronGeorge ChongWilliam D Foulkes

Published in: BMC cancer (2020)

Larger rearrangements in BRCA1/2 contributed to the overall mutational burden of familial BC and OVC in SA. Almost a quarter of all pathogenic variants in BRCA1 were LGRs (7/30, 23%). The spectrum observed included two WGDs, one each for BRCA1 and BRCA2.

Keyphrases

breast cancer risk
early onset
risk factors
dna methylation
genome wide