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November 1, 2006

Mutations in Families at High Risk for Breast Cancer

Author Affiliations

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

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

To the Editor: In their study of mutations in families at high risk of breast cancer, Dr Walsh and colleagues1 chose TP53 and PTEN as screening targets for the 300 probands. TP53 and PTEN were selected because both mutations are associated with an increased risk of early-onset breast cancer, especially in patients with Li-Fraumeni syndrome and Cowden syndrome, respectively. However, it is surprising that many mutations were not screened for in this study eventhough they are more closely associated with an increased risk of breast cancer on the basis of odds ratios (ORs) of common mutations in the genes. These include HSP70-2 (OR, 27.5) and Her2 (OR, 12.76), compared with TP53 (OR, 1.08).2

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