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BRCA2 mutation carriers

A previous study from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) reported a genome-wide association study (GWAS) for breast cancer risk in BRCA2 mutation carriers (PLoS Genet. 6, e1001183, 2010), identifying only known loci previously associated with breast cancer risk in the general population. Kenneth Offit and colleagues now report an extended replication, including genotyping using the iCOGS array, of 3,881 BRCA2 mutation carriers with breast cancer and 4,330 without breast cancer from CIMBA (PLoS Genet. 9, e1003173, 2013). They selected 19,029 SNPs from the initial GWAS for inclusion on the iCOGS array. The authors replicated previous breast cancer susceptibility loci and also identified a new susceptibility locus at 6p24 associated with breast cancer risk for BRCA2 mutation carriers but not with breast cancer for BRCA1 mutation carriers or the general population. This represents the first BRCA2-specific breast cancer association. Using a data set from The Cancer Genome Atlas (TGCA), they found that rs9348512 was associated with increased expression of the nearby gene GCNT2 in breast tumors. The authors used a combined-SNP risk profile of 14 SNPs known to modify risk in BRCA2 mutation carriers, predicting 21–47% risk of developing breast cancer by the age of 80 years for the 5% of the BRCA2 mutation carriers at lowest risk compared to 83–100% risk for the 5% at highest risk.


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Bahcall, O. BRCA2 mutation carriers. Nat Genet 45, 352 (2013).

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