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CHEK 2 Gene Mutation Triples Breast Cancer Risk

A study carried out on approximately 9,000 Danish residents revealed that a specific mutation in the CHEK2 gene might increase three-fold// a woman's risk of developing breast cancer in her lifetime. The study, which was the first to examine the prevalence of the CHEK2 mutation and the cancer risk associated with it, in the general population, will be published in the July 31 edition of the Journal of Clinical Oncology.

"Our study shows that women in the general population who carry a specific CHEK2 mutation are three times as likely as women without the mutation to develop breast cancer," said Borge G. Nordestgaard, MD, Professor and Chief Physician, Department of Clinical Biochemistry, Herlev University Hospital, Denmark, and lead author of the study. "The findings suggest that CHEK2 could serve as a useful biomarker for identifying women who would benefit from heightened, regular screening for breast cancer."

CHEK2, which belongs to a class of genes known as "tumor suppressors," is responsible for repairing DNA damage and preventing the uncontrolled division of cells, which can lead to cancer. In this study, researchers looked for a specific mutation, known as CHEK2*1100delC, which impairs the gene's ability to fix damage to DNA.

Previous case-control studies have shown an association between this specific CHEK2 mutation and breast, prostate, and colorectal cancer. Researchers designed this study to assess the prevalence of the mutation in the population at large and to examine its impact on cancer risk.

Dr. Nordestgaard and his colleagues randomly selected 9,231 Danes who had participated in the Copenhagen City Heart Study--a cohort of more than 20,000 Danish men and women that followed were monitored for an average of 34 years for cancer development.

The researchers found that 0.5% of all participants carried the CHEK2 mutation. Among women who carried the CHEK2 mutation, 12% developed breast cancer,
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