How to manage BRCA mutation carriers?

Horm Mol Biol Clin Investig. 2020 May 27;41(3). doi: 10.1515/hmbci-2019-0065.

Abstract

Inherited mutations in BRCA1 and BRCA2 genes increase the risk of development of cancer in organs especially in breast and ovary. Prevention and screening in BRCA mutation carriers are of high importance. Prophylactic surgeries are possible but are still insufficiently performed because they require surgical procedures in healthy patients. Guidelines for the management of BRCA mutations carriers must absolutely be part of the standard practice of all those involved in the management of these patients to increase the impact of the implementation of these preventive measures. There is no screening recommended for ovarian cancer. A risk-reducing bilateral salpingo-oophorectomy should be performed from age 35 to 40 years for BRCA1 mutation carriers and 40 to 45 years for BRCA2 mutation carriers. A screening for breast cancer should be performed annually from 30 years old by breast MRI and mammography. A risk-reducing bilateral mastectomy is recommended with nipple sparing mastectomy and immediate breast reconstruction from 30 years and before 40 years. A multidisciplinary care must be implemented for these patients with an important psychological support.

Keywords: BRCA mutation; breast cancer; ovarian cancer; prophylactic mastectomy; risk reducing surgery.

Publication types

  • Review

MeSH terms

  • BRCA1 Protein / genetics
  • BRCA2 Protein / genetics
  • Chemoprevention / methods*
  • Chemoprevention / standards
  • Female
  • Genetic Carrier Screening / methods*
  • Genetic Carrier Screening / standards
  • Hereditary Breast and Ovarian Cancer Syndrome / genetics
  • Hereditary Breast and Ovarian Cancer Syndrome / prevention & control*
  • Humans
  • Prophylactic Mastectomy / methods*
  • Prophylactic Mastectomy / standards

Substances

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