Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers Journal Article


Authors: Scheuer, L.; Kauff, N.; Robson, M.; Kelly, B.; Barakat, R.; Satagopan, J.; Ellis, N.; Hensley, M.; Boyd, J.; Borgen, P.; Norton, L.; Offit, K.
Article Title: Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers
Abstract: Purpose: To prospectively determine the impact of genetic counseling and testing on risk-reduction strategies and cancer incidence in a cohort of individuals at hereditary risk for breast and ovarian cancer. Patients and Methods: Two hundred fifty-one individuals with BRCA mutations were identified at a single comprehensive cancer center from May 1, 1995, through October 31, 2000. Uniform recommendations regarding screening and preventive surgery were provided in the context of genetic counseling. Patients were followed for a mean of 24.8 months (range, 1.6 to 66.0 months) using standardized questionnaires, chart reviews, and contact with primary physicians. Results: Frequency of cancer surveillance by physical examinations and imaging studies increased after genetic counseling and testing. Twenty-one breast, ovarian, primary peritoneal, or fallopian tube cancers were detected after receipt of genetic test results. Among 29 individuals choosing risk-reducing mastectomy after testing, two were found to have occult intraductal breast cancers. Among 90 individuals who underwent risk-reducing salpingo-oophorectomy, one early-stage ovarian neoplasm and one early-stage fallopian tube neoplasm were found. Radiographic or tumor marker-based screening detected six breast cancers, five of which were stage 0/1, one early-stage primary peritoneal cancer, and three stage I or II ovarian cancers. Six additional breast cancers were detected by physical examination between radiographic screening intervals; four of these six tumors were stage I. No stage III or stage IV malignancies were detected after genetic testing. Conclusion: This study provides prospective evidence that genetic counseling and testing increased surveillance and led to risk-reducing operations, which resulted in diagnosis of early-stage tumors in patients with BRCA1 and BRCA2 mutations. © 2002 by American Society of Clinical Oncology.
Keywords: adult; aged; middle aged; gene mutation; major clinical study; mutation; cancer risk; cancer staging; cancer diagnosis; cancer incidence; salpingooophorectomy; prospective studies; genetic analysis; ovarian neoplasms; ovary cancer; peritoneum cancer; breast cancer; mastectomy; ovariectomy; cohort analysis; cancer screening; diagnostic imaging; breast neoplasms; brca1 protein; brca2 protein; heterozygote; tumor marker; oncogene; heterozygosity; genes, brca1; genes, brca2; outcomes research; cancer epidemiology; physical examination; uterine tube carcinoma; fallopian tube neoplasms; genetic screening; genetic counseling; humans; human; male; female; priority journal; article
Journal Title: Journal of Clinical Oncology
Volume: 20
Issue: 5
ISSN: 0732-183X
Publisher: American Society of Clinical Oncology  
Date Published: 2002-03-01
Start Page: 1260
End Page: 1268
Language: English
DOI: 10.1200/jco.20.5.1260
PUBMED: 11870168
PROVIDER: scopus
DOI/URL:
Notes: Export Date: 14 November 2014 -- Source: Scopus
Altmetric Score
MSK Authors
  1. Kenneth Offit
    509 Offit
  2. Richard R Barakat
    588 Barakat
  3. Larry Norton
    562 Norton
  4. Jaya M Satagopan
    137 Satagopan
  5. Mark E Robson
    365 Robson
  6. Noah Kauff
    122 Kauff
  7. Jeffrey Boyd
    111 Boyd
  8. Nathan A Ellis
    74 Ellis
  9. Patrick I Borgen
    232 Borgen
  10. Martee L Hensley
    220 Hensley
  11. Lauren   Scheuer
    18 Scheuer
  12. Bridget   Kelly
    3 Kelly