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BRCA Mutations and Ductal Carcinoma In Situ—Reply
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In Reply: Dr Foulkes and colleagues raise an interesting question regarding the woman in our study who was diagnosed with DCIS at 37 years and who carries a mutation in both BRCA1 and BRCA2. We have recontacted this study participant and found (after she gathered information from additional family members) that both her maternal grandfather and grandmother were indeed of French-Canadian descent as shown in the pedigree (Figure). The study by Oros et al1 reports the 2 mutations identified in our study patient in several French-Canadian hereditary breast-ovarian cancer families (but not in the same family or individual). It will be of interest to define the relationship of the family identified in our study to the families that this group has already identified.
Figure appears in full text version.
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Figure. Pedigree of Study Participant With Mutations in Both BRCA1 and BRCA2
Individuals aged 50 years or older but less than 60 years is . . . [Full Text of this Article]
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Elizabeth B. Claus, MD, PhD
elizabeth.claus@yale.edu
Stacey Petruzella, MS, MPH
Department of Epidemiology and Public Health
Ellen Matloff, MS;
Daryl Carter, MD
Yale Comprehensive Cancer Center
Yale University School of Medicine
New Haven, Conn
RELATED ARTICLES
BRCA Mutations and Ductal Carcinoma In Situ
William D. Foulkes, Nancy Hamel, and Kathleen Klein Oros
JAMA. 2005;294(5):553-554.
EXTRACT
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Prevalence of BRCA1 and BRCA2 Mutations in Women Diagnosed With Ductal Carcinoma In Situ
Elizabeth B. Claus, Stacey Petruzella, Ellen Matloff, and Darryl Carter
JAMA. 2005;293(8):964-969.
ABSTRACT
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