BRCA-associated breast cancer in young women Journal Article


Authors: Robson, M.; Gilewski, T.; Haas, B.; Levin, D.; Borgen, P.; Rajan, P.; Hirschaut, Y.; Pressman, P.; Rosen, P. P.; Lesser, M. L.; Norton, L.; Offit, K.
Article Title: BRCA-associated breast cancer in young women
Abstract: Purpose: To delineate the clinical characteristics and outcomes of breast cancer that arises in the setting of a germline BRCA mutation and to compare BRCA-associated breast cancers (BABC) with those that arise in women without mutations. Patients and Methods: We reviewed the clinical records of 91 Ashkenozi Jewish women ascertained during studies of the genetics of early-onset breast cancer. All women underwent testing for the BRCA1 mutations 185delAG and 5382insC. After the discovery of BRCA2, 79 women were also tested for the BRCA2 mutation 6174delT. Results: Mutations were identified in 30 women (33%). BABC were less likely to present with stage I disease than cases in women without mutations (27% v 46%), more likely to have axillary nodal involvement (54% v 46%), and more likely to hove extensive axillary involvement (25% v 17%). These differences were not statistically significant. BABC were significantly more likely to be histologic grade III (100% v 59%, P = .04) and to be estrogen receptor- negative (70% v 34%, P = .04). In the entire cohort, there were no significant differences between BABC and non-BRCA-associated cancers in 5- year relapse-free survival (65% v 69%, P = not significant [NS]), 5-year event-free survival (57% v 68%, P = NS), or 5-year overall survival. However, among cases diagnosed within 2 years of study entry, there was o trend toward shorter event-free survival in BRCA heterozygotes, but not relapse-free survival. Women with germline BRCA mutations were significantly more likely to develop contralateral breast cancer at 5 years (31% v 4%, P = .0007). Conclusion: BABC present with adverse clinical and histopathologic features when compared with cases not associated with BRCA mutations. However, the prognosis of BABC appears to be similar to that of nonassociated cancer. Further studies of incident cases are necessary to define the independent prognostic significance of germline BRCA mutations.
Keywords: adult; cancer survival; disease-free survival; survival rate; gene mutation; major clinical study; sequence analysis; histopathology; lymphatic metastasis; cancer grading; breast cancer; neoplasm proteins; breast neoplasms; brca2 protein; heterozygote; transcription factors; cancer genetics; heterozygosity; genes, brca1; receptors, estrogen; age of onset; jews; germ-line mutation; genes, tumor suppressor; jew; humans; prognosis; human; female; priority journal; article
Journal Title: Journal of Clinical Oncology
Volume: 16
Issue: 5
ISSN: 0732-183X
Publisher: American Society of Clinical Oncology  
Date Published: 1998-05-01
Start Page: 1642
End Page: 1649
Language: English
PUBMED: 9586873
PROVIDER: scopus
DOI: 10.1200/JCO.1998.16.5.1642
DOI/URL:
Notes: Article -- Export Date: 12 December 2016 -- Source: Scopus
Altmetric Score
MSK Authors
  1. Kenneth Offit
    509 Offit
  2. Larry Norton
    563 Norton
  3. Mark E Robson
    365 Robson
  4. Patrick I Borgen
    235 Borgen
  5. Paul P Rosen
    95 Rosen
  6. Bruce R Haas
    8 Haas
  7. Deborah C Levin
    1 Levin