BRCA mutations in women with ductal carcinoma in situ

Karen Lisa Smith, Muriel Adank, Noah Kauff, Kelly Lafaro, Jeff Boyd, Johanna B. Lee, Clifford Hudis, Kenneth Offit, Mark Robson

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish (US)
Pages (from-to)4306-4310
Number of pages5
JournalClinical Cancer Research
Issue number14
StatePublished - Jul 15 2007
Externally publishedYes

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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