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World J Obstet Gynecol. Feb 10, 2016; 5(1): 50-57
Published online Feb 10, 2016. doi: 10.5317/wjog.v5.i1.50
Implications of multigene testing for hereditary breast cancer in primary care
Meghna S Trivedi, Katherine D Crew
Meghna S Trivedi, Katherine D Crew, Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, NY 10032, United States
Katherine D Crew, Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY 10032, United States
Katherine D Crew, Herbert Irving Comprehensive Cancer Center, Columbia University, New York, NY 10032, United States
Author contributions: Trivedi MS and Crew KD contributed equally to this work.
Conflict-of-interest statement: There is no conflict of interest associated with any of the authors who contributed their efforts in this manuscript.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Katherine D Crew, MD, MS, Assistant Professor of Medicine and Epidemiology, Herbert Irving Comprehensive Cancer Center, Columbia University, 161 Fort Washington Ave, 10-1072, New York, NY 10032, United States. kd59@cumc.columbia.edu
Telephone: +1-212-3051732 Fax: +1-212-3050178
Received: June 28, 2015
Peer-review started: July 11, 2015
First decision: October 8, 2015
Revised: October 29, 2015
Accepted: January 5, 2016
Article in press: January 7, 2016
Published online: February 10, 2016
Processing time: 216 Days and 21.1 Hours
Abstract

Approximately 1 in 8 women will develop breast cancer during their lifetime and the risk factors include age, family history, and reproductive factors. In women with a family history of breast cancer, there is a proportion in which a gene mutation can be the cause of the predisposition for breast cancer. A careful assessment of family and clinical history should be performed in these women in order to determine if a genetic counseling referral is indicated. In cases of hereditary breast cancer, genetic testing with a multigene panel can identify specific genetic mutations in over 100 genes. The most common genes mutated in hereditary breast cancer are the high-penetrance BRCA1 and BRCA2 genes. In addition, other mutations in high-penetrance genes in familial cancer syndromes and mutations in DNA repair genes can cause hereditary breast cancer. Mutations in low-penetrance genes and variants of uncertain significance may play a role in breast cancer development, but the magnitude and scope of risk in these cases remain unclear, thus the clinical utility of testing for these mutations is uncertain. In women with high-penetrance genetic mutations or lifetime risk of breast cancer > 20%, risk-reducing interventions, such as intensive screening, surgery, and chemoprevention, can decrease the incidence and mortality of breast cancer.

Keywords: Genetic testing; BRCA1; BRCA2; Hereditary breast cancer; Multigene testing

Core tip: Multigene testing for hereditary breast cancer is readily available and some panels can identify over 100 gene mutations. Risk-reducing strategies are available for women with mutations in high-penetrance genes, whereas strategies for managing women with mutations in low-moderate penetrance genes is less clear. Appropriately identifying women who should undergo genetic counseling for hereditary breast cancer and implementing recommended guidelines in those who are found to be high risk can reduce the incidence and mortality of breast cancer.