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Rare variants in XRCC2 as breast cancer susceptibility alleles

icecream 添加于 2012-12-1 21:43 | 1101 次阅读 | 0 个评论

作者
Hilbers FS, Wijnen JT, Hoogerbrugge N, Oosterwijk JC, Collee MJ, Peterlongo P, Radice P, Manoukian S, Feroce I, Capra F, Couch FJ, Wang X, Guidugli L, Offit K, Shah S, Campbell IG, Thompson ER, James PA, Trainer AH, Gracia J, Benitez J, van Asperen CJ, Devilee P
摘要
BACKGROUND: Recently, rare germline variants in XRCC2 were detected in non-BRCA1/2 familial breast cancer cases, and a significant association with breast cancer was reported. However, the breast cancer risk associated with these variants needs further evaluation. METHODS: The coding regions and exon-intron boundaries of XRCC2 were scanned for mutations in an international cohort of 3548 non-BRCA1/2 familial breast cancer cases and 1435 healthy controls using various mutation scanning methods. Predictions on functional relevance of detected missense variants were obtained from three different prediction algorithms. RESULTS: The only protein-truncating variant detected was found in a control. Rare non-protein-truncating variants were detected in 20 familial cases (0.6%) and nine healthy controls (0.6%). Although the number of variants predicted to be damaging or neutral differed between prediction algorithms, in all instances these categories were evenly represented among cases and controls. CONCLUSIONS: Our data do not confirm an association between XRCC2 variants and breast cancer risk, although a relative risk smaller than two could not be excluded. Variants in XRCC2 are unlikely to explain a substantial proportion of familial breast cancer.
详细资料
- 文献种类: Journal Article
- 期刊名称: Journal of Medical Genetics
- 期刊缩写: J Med Genet
- 期卷页: 2012年第49卷第10期 618-620页
- 地址: Department of Human Genetics, Leiden University Medical Centre, Albinusdreef 2, Leiden 2333 ZA, The Netherlands; f.s.m.hilbers@lumc.nl
- ISBN: 0022-2593
学科领域生物医药 » 预防卫生学
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