Clinical Validity of Next-Generation Sequencing Multi-Gene Panel Testing for Detecting Pathogenic Variants in Patients With Hereditary Breast-Ovarian Cancer Syndrome
10.3343/alm.2020.40.2.148
- Author:
Jaeeun YOO
1
;
Gun Dong LEE
;
Jee Hae KIM
;
Seung Nam LEE
;
Hyojin CHAE
;
Eunhee HAN
;
Yonggoo KIM
;
Myungshin KIM
Author Information
1. Department of Laboratory Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea. microkim@catholic.ac.kr
- Publication Type:Original Article
- From:Annals of Laboratory Medicine
2020;40(2):148-154
- CountryRepublic of Korea
- Language:English
-
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.
