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November 1, 2006

Mutations in Families at High Risk for Breast Cancer—Reply

Author Affiliations

Letters Section Editor: Robert M. Golub, MD, Senior Editor.

JAMA. 2006;296(17):2091-2092. doi:10.1001/jama.296.17.2091-b

In Reply: The purpose of our study was to evaluate the range of inherited mutations in BRCA1, BRCA2, CHEK2, TP53, and PTEN, which are known to be associated with risk of breast cancer, not to test polymorphisms that have no consistent association with breast cancer. Dr Cheung suggests that polymorphisms in HSP70-2 and HER2 should have been tested. However, we agree with de Jong et al,1 cited by Cheung, that “each [is] described in only one study, with very small sample sizes. . . . Replication of this is needed either to confirm or reject the tentative findings.” For these candidate polymorphisms, as for many others, no association with breast cancer was confirmed in subsequent studies.

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