계명대학교 의학도서관 Repository

Utility of Next-Generation Sequencing Panel Including Hereditary Breast and Ovarian Cancer-Related Genes for Pathogenic Variant Detection

Metadata Downloads
Author(s)
Jae Hee LeeDo-Hoon Kim
Keimyung Author(s)
Kim, Do Hoon
Department
Dept. of Laboratory Medicine (진단검사의학)
Journal Title
Keimyung Med J
Issued Date
2024
Volume
43
Issue
1
Keyword
GenesBRCA1BRCA2Hereditary breast and ovarian cancer syndromeHigh-throughput nucleotide sequencing
Abstract
Hereditary breast and ovarian cancer syndrome (HBOC) is an inherited disorder associated with a higher than normal risk of breast and ovarian cancer. Most HBOC patients possess certain pathogenic variants (PVs) in BRCA1/2 genes. However, studies have indicated that HBOC patients may also have PVs in other cancer-related genes. Therefore, we analyzed variants in BRCA1/2 and other hereditary cancer-related genes in suspected HBOC patients using the multi-gene next-generation sequencing (NGS) panel method. We enrolled a total of 148 patients with cancers related to HBOC including breast, ovarian, primary peritoneal, prostate, and fallopian tube cancer. The 48 multi-gene NGS assay was applied to all samples, and multiplex ligation-dependent probe amplification (MLPA) and direct sequencing were used to confirm variants in BRCA1/2 and Lynch syndrome-related genes. We identified 17 PVs or likely PVs in 148 participants (11.5%), with PVs in BRCA1/2 detected in 7 patients (4.7%). We found PVs other than BRCA1/2 in 10 patients through the NGS panel and MLPA (7.1%). Apart from BRCA1/2, the genes in which PVs were detected included RAD51D, MLH1, MSH2, and MSH6. The NGS method shows significant potential in diagnosing and treating suspected HBOC patients, particularly those who test negative for BRCA1/2 genes.
Keimyung Author(s)(Kor)
김도훈
Publisher
School of Medicine (의과대학)
Type
Article
ISSN
2733-5380
Source
https://www.e-kmj.org/journal/view.php?number=2296
DOI
10.46308/kmj.2023.00283
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/45415
Appears in Collections:
2. Keimyung Medical Journal (계명의대 학술지) > 2024
1. School of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학)
Authorize & License
  • Authorize공개
Files in This Item:

Items in Repository are protected by copyright, with all rights reserved, unless otherwise indicated.