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Testing for CHEK2 in the cancer genetics clinic: ready for prime time?

Abstract

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.

Retrospective comparison of patient outcomes after in-person and telephone results disclosure counseling for BRCA1/2 genetic testing.

"This study suggests that telephone results disclosure is clinically appropriate when counselors utilize their clinical judgment to determine which patients are appropriate candidates."