Journal article

Reevaluation of the BRCA2 truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer context

Ella R Thompson, Kylie L Gorringe, Simone M Rowley, Na Li, Simone McInerny, Michelle W Wong-Brown, Lisa Devereux, Jason Li, Alison H Trainer, Gillian Mitchell, Rodney J Scott, Paul A James, Ian G Campbell

Scientific Reports | NATURE PUBLISHING GROUP | Published : 2015


The breast cancer predisposition gene, BRCA2, has a large number of genetic variants of unknown effect. The variant rs11571833, an A > T transversion in the final exon of the gene that leads to the creation of a stop codon 93 amino acids early (K3326*), is reported as a neutral polymorphism but there is some evidence to suggest an association with an increased risk of breast cancer. We assessed whether this variant was enriched in a cohort of breast cancer cases ascertained through familial cancer clinics compared to population-based non-cancer controls using a targeted sequencing approach. We identified the variant in 66/2634 (2.5%) cases and 33/1996 (1.65%) controls, indicating an enrichme..

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Awarded by National Breast Cancer Foundation

Funding Acknowledgements

This work was supported by the Victorian Breast Cancer Research Consortium, the National Breast Cancer Foundation, the Victorian Cancer Agency, and the National Health and Medical Research Council. We would also like to thank all Centers who provided samples for BRCA1 and BRCA2 analysis to HAPS, which were used in this study and the investigators/FCCs of the ViP study: Marion Harris (Monash Health), Geoff Lindeman (Royal Melbourne Hospital), Martin Delatycki (Austin Hospital), Yoland Antill (Cabrini Hospital) and Ingrid Winship (Geelong FCC/Barwon Health).