An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers

Breast Cancer Res Treat. 2016 Jun;157(2):319-327. doi: 10.1007/s10549-016-3805-0. Epub 2016 Apr 27.

Abstract

Female BRCA1/BRCA2 mutation carriers are at substantially increased risk for developing breast and/or ovarian cancer, and are offered enhanced surveillance including screening from a young age and risk-reducing surgery (RRS)-mastectomy (RRM) and/or salpingo-oophorectomy (RRSO). While there are established guidelines for early detection of breast cancer in high-risk women who have not undergone RRM, there are less developed guidelines after RRM. We evaluated the schemes offered before and after RRS in internationally diverse high-risk clinics. An e-mailed survey was distributed to high-risk clinics affiliated with CIMBA. Overall, 22 centers from 16 countries responded. Pre RRS surveillance schemes overwhelmingly included breast imaging (primarily MRI) from 18 to 30 years and clinical breast exam (CBE) at 6-12 month intervals. For ovarian cancer, all but 6 centers offered semiannual/annual gynecological exam, transvaginal ultrasound, and CA 125 measurements. Post RRM, most centers offered only annual CBE while 4 centers offered annual MRI, primarily for substantial residual breast tissue. After RRSO only 4 centers offered specific gynecological surveillance. Existing guidelines for breast/ovarian cancer detection in BRCA carriers are being applied pre RRS but are not globally harmonized, and most centers offer no specific surveillance post RRS. From this comprehensive multinational study it is clear that evidence-based, long-term prospective data on the most effective scheme for BRCA carriers post RRS is needed.

Keywords: BRCA1/BRCA2 mutation carriers; Early detection; High-risk women; Risk-reducing surgery; Surveillance schemes.

Publication types

  • Multicenter Study

MeSH terms

  • Adult
  • BRCA1 Protein / genetics*
  • BRCA2 Protein / genetics*
  • Breast Neoplasms / genetics
  • Breast Neoplasms / prevention & control*
  • Evidence-Based Medicine
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Mutation*
  • Ovarian Neoplasms / genetics
  • Ovarian Neoplasms / prevention & control*
  • Practice Guidelines as Topic
  • Prophylactic Mastectomy
  • Prophylactic Surgical Procedures / methods*
  • Prospective Studies
  • Surveys and Questionnaires
  • Young Adult

Substances

  • BRCA1 Protein
  • BRCA1 protein, human
  • BRCA2 Protein
  • BRCA2 protein, human