- Title
- Reevaluation of the BRCA₂ truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer context
- Creator
- Thompson, Ella R.; Gorringe, Kylie L.; Mitchell, Gillian; Scott, Rodney J.; James, Paul A.; Campbell, Ian G.; Rowley, Simone M.; Li, Na; McInerny, Simone; Wong-Brown, Michelle W.; Devereux, Lisa; Li, Jason; Lifepool Investigators,; Trainer, Alison H.
- Relation
- NHMRC
- Relation
- Scientific Reports Vol. 5
- Publisher Link
- http://dx.doi.org/10.1038/srep14800
- Publisher
- Nature Publishing Group
- Resource Type
- journal article
- Date
- 2015
- Description
- 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 enrichment in the breast cancer cases (p = 0.047, OR 1.53, 95% CI 1.00–2.34). This data is consistent with recent iCOGs data suggesting that this variant is not neutral with respect to breast cancer risk. rs11571833 may need to be included in SNP panels for evaluating breast cancer risk.
- Subject
- BRCA₂; breast cancer; gene variants; breast cancer predisposition gene
- Identifier
- http://hdl.handle.net/1959.13/1314112
- Identifier
- uon:22707
- Identifier
- ISSN:2045-2322
- Rights
- This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
- Language
- eng
- Full Text
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