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Mutations in Families at High Risk for Breast Cancer
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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
Although CHEK2c*1100delC is a low-penetrance variant indicative of a susceptibility to breast cancer in noncarriers of BRCA1 or BRCA2, the genotyping of such CHEK2 mutations is not clinically applicable in the Czech Republic. Since CHEK2 . . . [Full Text of this Article]
Peter Cheung, BSch
pcheun5@uwo.ca
Department of Pathology
Schulich School of Medicine and Dentistry
University of Western Ontario
London
RELATED LETTER
Mutations in Families at High Risk for Breast Cancer—Reply
Tom Walsh, Silvia Casadei, Elizabeth Swisher, Sunday M. Stray, Jake Higgins, Kevin C. Roach, Ming K. Lee, and Mary-Claire King
JAMA. 2006;296(17):2091-2092.
EXTRACT
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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.
ABSTRACT
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