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Mutations in Families at High Risk for Breast Cancer—Reply
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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.
In contrast, inherited mutations of TP53 lead to extremely high risks of breast cancer. Compared with women in the general population, women with inherited TP53 mutations face a greater than 90% lifetime risk of breast cancer . . . [Full Text of this Article]
Tom Walsh, PhD;
Silvia Casadei, PhD;
Elizabeth Swisher, MD;
Sunday M. Stray, BA;
Jake Higgins, BS;
Kevin C. Roach, BS;
Ming K. Lee, PhD;
Mary-Claire King, PhD
mcking@u.washington.edu
University of Washington
Seattle
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RELATED LETTER
Mutations in Families at High Risk for Breast Cancer
Peter Cheung
JAMA. 2006;296(17):2091.
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RELATED ARTICLE
Spectrum of Mutations in BRCA1, BRCA2, CHEK2, and TP53 in Families at High Risk of Breast Cancer
Tom Walsh, Silvia Casadei, Kathryn Hale Coats, Elizabeth Swisher, Sunday M. Stray, Jake Higgins, Kevin C. Roach, Jessica Mandell, Ming K. Lee, Sona Ciernikova, Lenka Foretova, Pavel Soucek, and Mary-Claire King
JAMA. 2006;295(12):1379-1388.
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