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Limited Family Structure and Breast Cancer Risk—Reply
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In Reply: Dr Iversen and colleagues recognize the important effect of family structure on BRCA mutation prediction. We agree that BRCAPRO is probably the most robust of the models commonly used in genetic cancer risk assessment clinics.1 Our article noted that the mendelian construction of BRCAPRO should allow it to account for family characteristics, such as the presence or absence of unaffected relatives, if its parameters are correctly specified. Our data, whether or not an artifact of our specific cohort, call into question those parameters. Among the women with identified BRCA mutations, 16 of 29 (55%) had a BRCAPRO probability of less than 5%, significantly less than the 10% threshold commonly used for offering BRCA testing (Table).1-2 Family structure was limited in 11 of 16 (69%) of those cases. Although it is correct that the number of carriers identified was within 1 SD of the BRCAPRO estimates, clinicians . . . [Full Text of this Article]
Jeffrey N. Weitzel, MD
jweitzel@coh.org
Veronica I. Lagos, MS;
Deborah J. MacDonald, PhD
City of Hope
Duarte, California
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RELATED LETTER
Limited Family Structure and Breast Cancer Risk
Edwin S. Iversen, Jr, Hormuzd A. Katki, Sining Chen, Donald A. Berry, and Giovanni Parmigiani
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Limited Family Structure and BRCA Gene Mutation Status in Single Cases of Breast Cancer
Jeffrey N. Weitzel, Veronica I. Lagos, Carey A. Cullinane, Patricia J. Gambol, Julie O. Culver, Kathleen R. Blazer, Melanie R. Palomares, Katrina J. Lowstuter, and Deborah J. MacDonald
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