Clinical validity of next-generation sequencing multi-gene panel testing for detecting pathogenic variants in patients with hereditary breast-ovarian cancer syndrome

Jaeeun Yoo; Gun Dong Lee; Jee Hae Kim; Seung Nam Lee; Hyojin Chae; Eunhee Han; Yonggoo Kim; Myungshin Kim

doi: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
, Gun Dong Lee
, Jee Hae Kim
, Seung Nam Lee
, Hyojin Chae
, Eunhee Han
, Yonggoo Kim
, Myungshin Kim

Department of Laboratory Medicine

Catholic Univ. of Korea Coll. Med.

Research output: Contribution to journal › Article › peer-review

21 Scopus citations

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.

Original language	English
Pages (from-to)	148-154
Number of pages	7
Journal	Annals of Laboratory Medicine
Volume	40
Issue number	2
DOIs	https://doi.org/10.3343/alm.2020.40.2.148
State	Published - 2020

Bibliographical note

Publisher Copyright:
© Korean Society for Laboratory Medicine This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

BRCA1/2
Clinical validity
Hereditary breast and ovarian cancer syndrome
Multi-gene panel
Next-generation sequencing
Pathogenic variants

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10.3343/alm.2020.40.2.148

Cite this

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title = "Clinical validity of next-generation sequencing multi-gene panel testing for detecting pathogenic variants in patients with hereditary breast-ovarian cancer syndrome",

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 = "BRCA1/2, Clinical validity, Hereditary breast and ovarian cancer syndrome, Multi-gene panel, Next-generation sequencing, Pathogenic variants",

author = "Jaeeun Yoo and Lee, \{Gun Dong\} and Kim, \{Jee Hae\} and Lee, \{Seung Nam\} and Hyojin Chae and Eunhee Han and Yonggoo Kim and Myungshin Kim",

note = "Publisher Copyright: {\textcopyright} Korean Society for Laboratory Medicine This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.",

year = "2020",

doi = "10.3343/alm.2020.40.2.148",

language = "English",

volume = "40",

pages = "148--154",

journal = "Annals of Laboratory Medicine",

issn = "2234-3806",

publisher = "Korean Society for Laboratory Medicine",

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}

TY - JOUR

T1 - Clinical validity of next-generation sequencing multi-gene panel testing for detecting pathogenic variants in patients with hereditary breast-ovarian cancer syndrome

AU - Yoo, Jaeeun

AU - Lee, Gun Dong

AU - Kim, Jee Hae

AU - Lee, Seung Nam

AU - Chae, Hyojin

AU - Han, Eunhee

AU - Kim, Yonggoo

AU - Kim, Myungshin

N1 - Publisher Copyright: © Korean Society for Laboratory Medicine This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

PY - 2020

Y1 - 2020

N2 - 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.

AB - 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.

KW - BRCA1/2

KW - Clinical validity

KW - Hereditary breast and ovarian cancer syndrome

KW - Multi-gene panel

KW - Next-generation sequencing

KW - Pathogenic variants

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DO - 10.3343/alm.2020.40.2.148

M3 - Article

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AN - SCOPUS:85074087910

SN - 2234-3806

VL - 40

SP - 148

EP - 154

JO - Annals of Laboratory Medicine

JF - Annals of Laboratory Medicine

IS - 2

ER -

Clinical validity of next-generation sequencing multi-gene panel testing for detecting pathogenic variants in patients with hereditary breast-ovarian cancer syndrome

Abstract

Bibliographical note

UN SDGs

Keywords

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