RAD52 S346X Variant Reduces Breast Cancer Risk in BRCA2 Mutation Carriers

BRCA1 and BRCA2 are the two well-known tumor suppressors, and their mutations are associated with increased risk of breast and ovarian cancers (Samadder et al., 2019). It is well known that individual risks of BRCA1/2 mutation-carriers can vary due to a number of factors, and additional genetic changes or genetic modifiers that can modify tumor predisposition (Friebel et al., 2014). Genome-wide association studies have identified a number of loci that alter the breast cancer risk in BRCA1/2 mutation carriers (Milne and Antoniou, 2011). A noncoding polymorphism at 5´UTR in RAD51 has been shown by multiple independent studies to increase breast cancer risk in BRCA2 carriers (Antoniou et al., 2007). RAD51 is the key protein that interacts with both BRCA1 and BRCA2 and is required for the repair of double strand breaks by homologous recombination (Pellegrini and Venkitaraman, 2004). This article is protected by copyright. All rights reserved.

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