Breast Cancer Genetics and Indications for Prophylactic Mastectomy

Helen Krontiras; Meagan Farmer; Julie Whatley

doi:10.1016/j.suc.2018.03.004

Breast Cancer Genetics and Indications for Prophylactic Mastectomy

Surg Clin North Am. 2018 Aug;98(4):677-685. doi: 10.1016/j.suc.2018.03.004. Epub 2018 May 30.

Authors

Helen Krontiras¹, Meagan Farmer², Julie Whatley³

Affiliations

¹ Division of Surgical Oncology, Department of Surgery, University of Alabama at Birmingham, Faculty Office Tower Suite 1153, 1720 2nd Avenue South, Birmingham, AL 35294-3411, USA. Electronic address: hkrontir@uabmc.edu.
² Department of Genetics, University of Alabama at Birmingham, Kaul Human Genetics Building, Suite 230, 720 20th Street, South Birmingham, AL 35294-0024, USA.
³ Division of Surgical Oncology, Department of Surgery, University of Alabama at Birmingham, Faculty Office Tower Suite 1153, 1720 2nd Avenue South, Birmingham, AL 35294-3411, USA.

PMID: 30005767
DOI: 10.1016/j.suc.2018.03.004

Abstract

As more genetic information becomes available to inform breast cancer treatment, screening, and risk-reduction approaches, clinicians must become more knowledgeable about possible genetic testing and prevention strategies, including outcomes, benefits, risks, and limitations. The aim of this article is to define and distinguish high- and moderate-risk breast cancer predisposition genes, summarize the clinical recommendations that may be considered based on the identification of pathogenic variants (mutations) in these genes, and indications for risk-reducing and contralateral prophylactic mastectomy.

Keywords: BRCA; Contralateral prophylactic mastectomy; Genetic counseling; Multigene panel testing; Risk-reducing mastectomy.

Publication types

Review

MeSH terms

Breast Neoplasms / diagnosis
Breast Neoplasms / genetics*
Breast Neoplasms / surgery*
Female
Genetic Predisposition to Disease*
Genetic Testing
Humans
Patient Selection
Prophylactic Mastectomy*