The CHEK2*1100delC allelic variant and risk of breast cancer: Screening results from the breast cancer family registry Journal Article
| Authors: | Bernstein, J. L.; Teraoka, S. N.; John, E. M.; Andrulis, I. L.; Knight, J. A.; Lapinski, R.; Olson, E. R.; Wolitzer, A. L.; Seminara, D.; Whittemore, A. S.; Concannon, P. |
| Article Title: | The CHEK2*1100delC allelic variant and risk of breast cancer: Screening results from the breast cancer family registry |
| Abstract: | CHEK2, a serine-threonine kinase, is activated in response to agents, such as ionizing radiation, which induce DNA double-strand breaks. Activation of CHEK2 can result in cell cycle checkpoint arrest or apoptosis. One specific variant, CHEK2*1100delC, has been associated with an increased risk of breast cancer. In this population-based study, we screened 2,311 female breast cancer cases and 496 general population controls enrolled in the Ontario and Northern California Breast Cancer Family Registries for this variant (all controls were Canadian). Overall, 30 cases and one control carried the 1100delC allele. In Ontario, the weighted mutation carrier frequency among cases and controls was 1.34% and 0.20%, respectively [odds ratio (OR), 6.65; 95% confidence interval (95% CI), 2.37-18.68]. In California, the weighted population mutation carrier frequency in cases was 0.40%. Across all cases, 1 of 524 non-Caucasians (0.19%) and 29 of 1,775 Caucasians (1.63%) were mutation carriers (OR, 0.12; 95% CI, 0.02-0.89). Among Caucasian cases >45 years age at diagnosis, carrier status was associated with history of benign breast disease (OR, 3.18; 95% CI, 1.30-7.80) and exposure to diagnostic ionizing radiation (excluding mammography; OR, 3.21; 95% CI, 1.13-9.14); compared with women without exposure to ionizing radiation, the association was strongest among women exposed >15 years before diagnosis (OR, 4.28; 95% CI, 1.50-12.20) and among those who received two or more chest X-rays (OR, 3.63; 95% CI, 1.25-10.52). These data supporting the biological relevance of CHEK2 in breast carcinogenesis suggest that further studies examining the joint roles of CHEK2*1100delC carrier status and radiation exposure may be warranted. Copyright & 2006 American Association for Cancer Research. |
| Keywords: | controlled study; human tissue; human cell; major clinical study; cancer risk; united states; allele; breast cancer; genetic variability; gene frequency; cancer screening; radiation exposure; dna; double stranded dna; mammography; ionizing radiation; checkpoint kinase 2; thorax radiography; genetic screening; canada; caucasian; breast disease; cancer family; chek2 1100delc gene |
| Journal Title: | Cancer Epidemiology Biomarkers and Prevention |
| Volume: | 15 |
| Issue: | 2 |
| ISSN: | 1055-9965 |
| Publisher: | American Association for Cancer Research |
| Date Published: | 2006-02-01 |
| Start Page: | 348 |
| End Page: | 352 |
| Language: | English |
| DOI: | 10.1158/1055-9965.epi-05-0557 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | --- - "Cited By (since 1996): 21" - "Export Date: 4 June 2012" - "CODEN: CEBPE" - "Source: Scopus" |
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