BRCA mutations in women with ductal carcinoma in situ.


Journal Article

PURPOSE: The strength of the association between ductal carcinoma in situ (DCIS) and BRCA mutations has not been defined. EXPERIMENTAL DESIGN: Mutation frequency was compared in three groups: (1) a prevalent series of women with DCIS, (2) an incident series of women with DCIS, and (3) a clinic-based series of women with DCIS referred for hereditary cancer risk assessment. In groups 1 and 2, limited to Ashkenazi Jewish (AJ) cases, mutation frequency was compared with that in age-matched AJ controls with invasive breast cancer (IBC). RESULTS: In group 1, 3 of 62 (4.8%) women with DCIS and 15 of 130 (11.5%) controls with IBC had BRCA mutations. In group 2, 0 of 58 (0%) women with DCIS and 6 of 116 (5.2%) controls with IBC had BRCA mutations [combined odds ratios (OR) in groups 1 and 2: 3.64, 95% confidence interval (95% CI), 1.06-12.46; P=0.04]. In group 3, deleterious mutations were identified in 10 of 79 (12.7%) probands with DCIS, similar to the frequency in IBC probands. In group 3, mutations were associated with family history of ovarian cancer (OR, 13.35; 95% CI, 2.48-71.94; P=0.003) or early onset breast cancer (OR, 16.23; 95% CI, 1.68-157.01; P=0.02) but not with AJ ethnicity or age at diagnosis. CONCLUSIONS: BRCA mutations were less frequent in women with DCIS not selected for family history or age at diagnosis than in women with IBC. Nonetheless, mutations were found in a significant proportion of women with DCIS who presented for hereditary risk assessment.

Full Text

Cited Authors

  • Smith, KL; Adank, M; Kauff, N; Lafaro, K; Boyd, J; Lee, JB; Hudis, C; Offit, K; Robson, M

Published Date

  • July 2007

Published In

Volume / Issue

  • 13 / 14

Start / End Page

  • 4306 - 4310

PubMed ID

  • 17634561

Pubmed Central ID

  • 17634561

International Standard Serial Number (ISSN)

  • 1078-0432

Digital Object Identifier (DOI)

  • 10.1158/1078-0432.ccr-07-0146


  • eng