Association of germline variation with the survival of women with <i>BRCA1/2</i> pathogenic variants and breast cancer.

A single variant, rs57025206 (minor allele frequency in European population, MAF EUR , 0.027; info score 0.97 for imputed variant), a nine base pair insertion in an intergenic region of 3p21.2, was identified as a highly significant survival marker for ER-negative breast cancer patients carrying BRCA1 pathogenic variants, with a hazard ratio (HR) of 4.37 (95% confidence interval (CI) 3.03–6.30, P = 3.1 × 10 −9 , Fig. 1 ).

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