Rare variants in XRCC2 as breast cancer susceptibility alleles
SourceJournal of Medical Genetics, 49, 10, (2012), pp. 618-620
Article / Letter to editor
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Journal of Medical Genetics
SubjectONCOL 1: Hereditary cancer and cancer-related syndromes; ONCOL 1: Hereditary cancer and cancer-related syndromes NCMLS 6: Genetics and epigenetic pathways of disease; ONCOL 3: Translational research
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.
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