Rare Germ Line <i>CHEK2</i> Variants Identified in Breast Cancer Families Encode Proteins That Show Impaired Activation

Abstract excerpt

Germ line mutations in CHEK2, the gene that encodes the Chk2 serine/threonine kinase activated in response to DNA damage, have been found to confer an increased risk of some cancers. We have previously reported the presence of the common deleterious 1100delC and four rare CHEK2 mutations in inherited breast cancer. Here, we report that predictions made by bioinformatic analysis on the rare mutations indicate that...

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