CHEK2*1100delC heterozygosity predicts increased risk of breast cancer and poor outcome
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The checkpoint kinase CHEK2 acts to block cell proliferation and to initiate repair after DNA damage; dysfunction of the CHEK2 gene can lead to loss of these key functions and possible susceptibility to cancer. A deletion mutation (CHEK2*1100delC) has previously been linked to increased risk of developing breast, prostate and colorectal cancers. Two recent papers, both published in the Journal of Clinical Oncology, have discussed CHEK2*1100delC heterozygosity in cancer, with a particular focus on breast cancer.
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