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• W2309104237 endingPage "309" @default.
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• W2309104237 abstract "<h3>Background</h3> BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations in <i>BRIP1</i> are responsible for FANC group J, and previous studies have also suggested that rare protein truncating variants in <i>BRIP1</i> are associated with an increased risk of breast cancer. These studies have led to inclusion of <i>BRIP1</i> on targeted sequencing panels for breast cancer risk prediction. <h3>Methods</h3> We evaluated a truncating variant, p.Arg798Ter (rs137852986), and 10 missense variants of <i>BRIP1,</i> in 48 144 cases and 43 607 controls of European origin, drawn from 41 studies participating in the Breast Cancer Association Consortium (BCAC). Additionally, we sequenced the coding regions of <i>BRIP1</i> in 13 213 cases and 5242 controls from the UK, 1313 cases and 1123 controls from three population-based studies as part of the Breast Cancer Family Registry, and 1853 familial cases and 2001 controls from Australia. <h3>Results</h3> The rare truncating allele of rs137852986 was observed in 23 cases and 18 controls in Europeans in BCAC (OR 1.09, 95% CI 0.58 to 2.03, p=0.79). Truncating variants were found in the sequencing studies in 34 cases (0.21%) and 19 controls (0.23%) (combined OR 0.90, 95% CI 0.48 to 1.70, p=0.75). <h3>Conclusions</h3> These results suggest that truncating variants in <i>BRIP1</i>, and in particular p.Arg798Ter, are not associated with a substantial increase in breast cancer risk. Such observations have important implications for the reporting of results from breast cancer screening panels." @default.
• W2309104237 created "2016-06-24" @default.
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