Ann Lab Med 2020; 40(2): 148-154  https://doi.org/10.3343/alm.2020.40.2.148
Clinical Validity of Next-Generation Sequencing Multi-Gene Panel Testing for Detecting Pathogenic Variants in Patients With Hereditary Breast-Ovarian Cancer Syndrome
Jaeeun Yoo, M.D.1,2, Gun Dong Lee, M.T.1,2, Jee Hae Kim, M.T.1,2, Seung Nam Lee, M.T.1,2, Hyojin Chae, M.D., Ph.D.1,2, Eunhee Han, M.D., Ph.D.1,2, Yonggoo Kim, M.D., Ph.D.1,2, and Myungshin Kim, M.D., Ph.D.1,2
1Department of Laboratory Medicine and 2Catholic Genetic Laboratory Center, Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea
Corresponding author: Myungshin Kim, M.D., Ph.D.
Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul St. Mary’s Hospital, 222 Banpo-daero, Seocho-gu, Seoul 06591, Korea
Tel: +82-2-2258-1645 Fax: +82-2-2258-1719 E-mail: microkim@catholic.ac.kr
Received: December 5, 2018; Revised: June 3, 2019; Accepted: October 11, 2019; Published online: March 1, 2020.
© Korean Society for Laboratory Medicine. All rights reserved.

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Abstract
Background: Hereditary breast and ovarian cancer syndrome (HBOC) is caused by pathogenic variants in BRCA and other cancer-related genes. We analyzed variants in BRCA gene and other cancer-related genes in HBOC patients to evaluate the clinical validity of next-generation sequencing (NGS) multi-gene panel testing.
Methods: The BRCA1/2 NGS testing was conducted for 262 HBOC patients. Multiplex ligation-dependent probe amplification and direct Sanger sequencing were performed for confirmation. Multi-gene panel testing was conducted for 120 patients who did not possess BRCA1/2 pathogenic variants but met the National Comprehensive Cancer Network criteria.
Results: Pathogenic variants in BRCA1/2 were detected in 30 HBOC patients (11.5%). Additionally, four out of the 120 patients possessed pathogenic variants by multi-gene panel testing (3.3%): MSH2 (c.256G >T, p.Glu86*), PMS2 (c.1687C >T, p.Arg563*), CHEK2 (c.546C >A, p.Tyr182*), and PALB2 (c.3351-1G >C). All the four patients had a family history of cancer.
Conclusions: Multi-gene panel testing could be a significant screening tool for HBOC patients, especially for those with a family history of cancer.
Keywords: Hereditary breast and ovarian cancer syndrome, BRCA1/2, Pathogenic variants, Multi-gene panel, Clinical validity, Next-generation sequencing



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