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KMID : 1100720200400020148
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Annals of Laboratory Medicine
2020 Volume.40 No. 2 p.148 ~ p.154
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Clinical Validity of Next-Generation Sequencing Multi-Gene Panel Testing for Detecting Pathogenic Variants in Patients With Hereditary Breast-Ovarian Cancer Syndrome
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Yoo Jae-Eun
Lee Gun-Dong
Kim Jee-Hae
Lee Seung-Nam
Chae Hyo-Jin
Han Eun-Hee
Kim Yong-Goo
Kim Myung-Shin
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Abstract
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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.
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KEYWORD
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Hereditary breast and ovarian cancer syndrome, BRCA1/2, Pathogenic variants, Multi-gene panel, Clinical validity, Next-generation sequencing
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