N.D. Kauff and E. Brogi contributed equally to this study.
Epithelial lesions in prophylactic mastectomy specimens from women with BRCA mutations
Article first published online: 18 MAR 2003
Copyright © 2003 American Cancer Society
Volume 97, Issue 7, pages 1601–1608, 1 April 2003
How to Cite
Kauff, N. D., Brogi, E., Scheuer, L., Pathak, D. R., Borgen, P. I., Hudis, C. A., Offit, K. and Robson, M. E. (2003), Epithelial lesions in prophylactic mastectomy specimens from women with BRCA mutations. Cancer, 97: 1601–1608. doi: 10.1002/cncr.11225
- Issue published online: 18 MAR 2003
- Article first published online: 18 MAR 2003
- Manuscript Accepted: 30 NOV 2002
- Manuscript Revised: 20 NOV 2002
- Manuscript Received: 30 SEP 2002
- Society of Memorial Sloan-Kettering Cancer Center
- Koodish Fellowship Fund
- Lymphoma Foundation
- Danziger Foundation
- Frankel Foundation
- Breast Cancer Research Foundation
- hereditary breast carcinoma;
- prophylactic mastectomy
It has been suggested that BRCA-associated breast carcinoma may often lack a detectable preinvasive phase. To investigate this hypothesis, the authors compared the prevalence of histopathologic lesions in prophylactic mastectomy (PM) specimens from women with BRCA mutations and in mastectomy specimens obtained at autopsy from an age and race-matched comparison group without a known cancer predisposition.
All specimens from women with a deleterious BRCA1 or BRCA2 mutation who participated in an ongoing follow-up study and underwent PM at Memorial Sloan-Kettering Cancer Center between November 1, 1987 and May 31, 2001 were reviewed. For each case, breast tissue from two age and race-matched women without a known cancer predisposition was also reviewed. The prevalence of benign, premalignant, and cancerous lesions was compared.
Mastectomy specimens from 24 cases and 48 comparison subjects were reviewed. Ductal carcinoma in situ (DCIS), atypical ductal hyperplasia (ADH), and atypical lobular hyperplasia (ALH) were all more common in PM specimens from women with BRCA mutations than in those from the comparison group. The odds ratio for the detection of any high-risk lesion (DCIS, lobular carcinoma in situ, ADH, or ALH) in specimens from BRCA mutation carriers was 12.7 (95% confidence interval, 3.1–52.4; P < 0.001).
Lesions associated with an increased risk of subsequent malignancy are more common in PM specimens from women with BRCA mutations than in breast tissue obtained at autopsy from unaffected women without a known predisposition. This finding suggests that hereditary breast carcinoma has a preinvasive phase that may be detectable with aggressive surveillance. Cancer 2003;97:1601–8. © 2003 American Cancer Society.