Copyright ©The Author(s) 2016. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Surg Proced. Mar 28, 2016; 6(1): 13-18
Published online Mar 28, 2016. doi: 10.5412/wjsp.v6.i1.13
Should multi-gene panel testing replace limited BRCA1/2 testing? A review of genetic testing for hereditary breast and ovarian cancers
Nimmi S Kapoor, Kimberly C Banks
Nimmi S Kapoor, Department of Surgical Oncology, Breastlink, Orange, CA 92868, United States
Kimberly C Banks, Medical Science Liason, Guardant Health, Redwood City, CA 94063, United States
Author contributions: Kapoor NS designed, wrote, and edited this manuscript; Banks KC wrote and edited this manuscript.
Conflict-of-interest statement: Kapoor NS has received honoraria for serving as a speaker for Ambry Genetics and Banks KC was previously employed by Ambry Genetics.
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:
Correspondence to: Nimmi S Kapoor, MD, Director, Department of Surgical Oncology, Breastlink, 230 S. Main Street, Suite 100, Orange, CA 92868, United States.
Telephone: +1-714-6193308 Fax: +1-714-5410450
Received: August 22, 2015
Peer-review started: August 23, 2015
First decision: October 27, 2015
Revised: December 12, 2015
Accepted: January 5, 2016
Article in press: January 7, 2016
Published online: March 28, 2016

Clinical testing of patients for hereditary breast and ovarian cancer syndromes began in the mid-1990s with the identification of the BRCA1 and BRCA2 genes. Since then, mutations in dozens of other genes have been correlated to increased breast, ovarian, and other cancer risk. The following decades of data collection and patient advocacy allowed for improvements in medical, legal, social, and ethical advances in genetic testing. Technological advances have made it possible to sequence multiple genes at once in a panel to give patients a more thorough evaluation of their personal cancer risk. Panel testing increases the detection of mutations that lead to increased risk of breast, ovarian, and other cancers and can better guide individualized screening measures compared to limited BRCA testing alone. At the same time, multi-gene panel testing is more time-and cost-efficient. While the clinical application of panel testing is in its infancy, many problems arise such as lack of guidelines for management of newly identified gene mutations, high rates of variants of uncertain significance, and limited ability to screen for some cancers. Through on-going concerted efforts of pooled data collection and analysis, it is likely that the benefits of multi-gene panel testing will outweigh the risks in the near future.

Keywords: Panel testing, Genetic testing, BRCA, Breast cancer

Core tip: Evaluating multiple genes in a panel test has clear advantages over BRCA1/2 testing including a greater likelihood of identifying patients with actionable pathogenic mutations, improved efficiency over sequential testing, and lower overall cost. At the same time, panel testing comes with limitations; most notably a lack of clear management guidelines for mutations in moderate penetrance genes and limited evidence-based clinical validity. As more information is gathered on these moderate- and low-penetrance gene mutations, the ability to guide clinical decisions for patients will continue to improve.