BRCA mutations in women with ductal carcinoma in situ Journal Article
| Authors: | Smith, K. L.; Adank, M.; Kauff, N.; Lafaro, K.; Boyd, J.; Lee, J. B.; Hudis, C.; Offit, K.; Robson, M. |
| Article Title: | BRCA mutations in women with ductal carcinoma in situ |
| Abstract: | 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. © 2007 American Association for Cancer Research. |
| Keywords: | adult; controlled study; middle aged; gene mutation; major clinical study; mutation; sequence deletion; cancer risk; comparative study; cancer diagnosis; ovarian neoplasms; ovary cancer; breast cancer; incidence; prevalence; analytic method; gene frequency; risk assessment; risk; confidence interval; oncogene; genes, brca1; genes, brca2; family history; carcinoma in situ; mutation rate; age of onset; ethnicity; carcinoma, ductal, breast |
| Journal Title: | Clinical Cancer Research |
| Volume: | 13 |
| Issue: | 14 |
| ISSN: | 1078-0432 |
| Publisher: | American Association for Cancer Research |
| Date Published: | 2007-07-15 |
| Start Page: | 4306 |
| End Page: | 4310 |
| Language: | English |
| DOI: | 10.1158/1078-0432.ccr-07-0146 |
| PUBMED: | 17634561 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | --- - "Cited By (since 1996): 12" - "Export Date: 17 November 2011" - "CODEN: CCREF" - "Source: Scopus" |
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