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Susceptibility to Breast Cancer in CHK2 Mutation Carriers
Final rept. 30 Sep 2000-30 Sep 2002
FOX CHASE CANCER CENTER PHILADELPHIA PA
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Familial breast cancer accounts for 15 to 35 of all breast cancers. Mutations in a number of genes are now known to cause susceptibility to breast cancer the most notorious are the BRCA1 and BRCA2 genes. However, it has become evident that not all and not even the majority of familial breast cancer families can be attributed to mutations in BRCA1 and BRCA2. Recently, it was reported that germline CHK2 mutations were found in two families with Li-Fraumeni syndrome and a third case with multiple primary cancers. The two families with Li-Fraumeni syndrome had diverse cancers, including early-onset breast cancers at ages 37, 41, and 45 years. The third proband developed breast cancer at age 47, malignant melanoma at 53 and primary lung cancer at 58, but had no family history of malignancies. These data suggest that germline CHK2 mutations predispose to breast cancer, similar to other inherited mutations in BRCA1, BRCA2, TP53 and perhaps ATM. However the extent of CHK2 involvement in hereditary breast cancer is not fully known. Our objective was to determine the frequency of germline mutations in CHK2CDS1 in breast cancer-prone kindreds that have previously tested negative for mutations in BRCA1 and BRCA2.
APPROVED FOR PUBLIC RELEASE