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Testing for CHEK2 in the cancer genetics clinic: ready for prime time?
Author(s) -
Narod SA
Publication year - 2010
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2010.01402.x
Subject(s) - chek2 , breast cancer , mutation , medicine , oncology , cancer , family history , genetic testing , genetics , germline mutation , gene , biology
Narod SA. Testing for CHEK2 in the cancer genetics clinic: ready for prime time? The 1100delC mutation of the CHEK2 gene was found to be a cause of breast cancer in 2002. The lifetime risk of breast cancer among women with a mutation and with a family history of breast cancer is approximately 25%. These women are good candidates for screening with MRI and for chemoprevention with tamoxifen. It is reasonable to test for this single mutation when women undergo testing for BRCA1 and BRCA2 .