Article
Clinical Validity of Next-Generation Sequencing Multi-Gene Panel Testing for Detecting Pathogenic Variants in Patients With Hereditary Breast-Ovarian Cancer Syndrome.
Annals of laboratory medicine - 1 Mar 2020
Yoo Jaeeun, Lee Gun Dong, Kim Jee Hae, Lee Seung Nam, Chae Hyojin, Han Eunhee, Kim Yonggoo, Kim Myungshin
Abstract excerpt
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...
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