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The World in Medicine
May 8, 2002

Cancer Susceptibility Gene

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JAMA. 2002;287(18):2353. doi:10.1001/jama.287.18.2353-JWM20005-3-1

An international team of investigators has identified a new breast cancer susceptibility gene that confers a twofold increase in breast cancer risk among women and a tenfold risk in men. The new findings were published online on April 22 by Nature Genetics at http://dx.doi.org/.

The researchers screened members of 718 families with a history of breast cancer and found that mutations in a gene called CHEK2, which encodes an enzyme involved in cell proliferation, was associated with increased breast cancer risk. However, CHEK2 mutations confer increased risk only in people who lack mutations in the previously identified breast cancer genes BRCA1 and BRCA2. This suggests that the proteins encoded by the three genes participate in the same biochemical pathway, the researchers said.

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