Epithelial lesions in prophylactic mastectomy specimens from women with BRCA mutations Journal Article


Authors: Kauff, N. D.; Brogi, E.; Scheuer, L.; Pathak, D. R.; Borgen, P. I.; Hudis, C. A.; Offit, K.; Robson, M. E.
Article Title: Epithelial lesions in prophylactic mastectomy specimens from women with BRCA mutations
Abstract: BACKGROUND. 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. METHODS. 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. RESULTS. 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). CONCLUSIONS. 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. © 2003 American Cancer Society.
Keywords: adolescent; adult; controlled study; human tissue; aged; middle aged; gene mutation; mutation; histopathology; follow up; antineoplastic agent; breast; mastectomy; prevalence; breast neoplasms; uvomorulin; biopsy; oncogene; mammography; genes, brca1; prophylaxis; breast carcinoma; carcinoma in situ; tamoxifen; epithelium; breast biopsy; prophylactic mastectomy; immunoperoxidase staining; humans; human; female; priority journal; article; brca1, brca2, hereditary breast carcinoma, pathology
Journal Title: Cancer
Volume: 97
Issue: 7
ISSN: 0008-543X
Publisher: Wiley Blackwell  
Date Published: 2003-04-01
Start Page: 1601
End Page: 1608
Language: English
DOI: 10.1002/cncr.11225
PUBMED: 12655515
PROVIDER: scopus
DOI/URL:
Notes: Export Date: 12 September 2014 -- Source: Scopus
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MSK Authors
  1. Kenneth Offit
    789 Offit
  2. Clifford Hudis
    905 Hudis
  3. Mark E Robson
    677 Robson
  4. Noah Kauff
    128 Kauff
  5. Patrick I Borgen
    253 Borgen
  6. Edi Brogi
    515 Brogi
  7. Lauren   Scheuer
    18 Scheuer