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Pathogenic Variant Profile of Hereditary Cancer Syndromes in a Vietnamese Cohort
BACKGROUND: Hereditary cancer syndromes (HCS) are responsible for 5-10% of cancer cases. Genetic testing to identify pathogenic variants associated with cancer predisposition has not been routinely available in Vietnam. Consequently, the prevalence and genetic landscape of HCS remain unknown. METHOD...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8767154/ https://www.ncbi.nlm.nih.gov/pubmed/35070997 http://dx.doi.org/10.3389/fonc.2021.789659 |
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author | Tran, Van Thuan Nguyen, Sao Trung Pham, Xuan Dung Phan, Thanh Hai Nguyen, Van Chu Nguyen, Huu Thinh Nguyen, Huu Phuc Doan, Phuong Thao Thi Le, Tuan Anh Nguyen, Bao Toan Jasmine, Thanh Xuan Nguyen, Duy Sinh Nguyen, Hong-Dang Luu Nguyen, Ngoc Mai Do, Duy Xuan Tran, Vu Uyen Nguyen, Hue Hanh Thi Le, Minh Phong Nguyen, Yen Nhi Do, Thanh Thuy Thi Truong, Dinh Kiet Tang, Hung Sang Phan, Minh-Duy Nguyen, Hoai-Nghia Giang, Hoa Tu, Lan N. |
author_facet | Tran, Van Thuan Nguyen, Sao Trung Pham, Xuan Dung Phan, Thanh Hai Nguyen, Van Chu Nguyen, Huu Thinh Nguyen, Huu Phuc Doan, Phuong Thao Thi Le, Tuan Anh Nguyen, Bao Toan Jasmine, Thanh Xuan Nguyen, Duy Sinh Nguyen, Hong-Dang Luu Nguyen, Ngoc Mai Do, Duy Xuan Tran, Vu Uyen Nguyen, Hue Hanh Thi Le, Minh Phong Nguyen, Yen Nhi Do, Thanh Thuy Thi Truong, Dinh Kiet Tang, Hung Sang Phan, Minh-Duy Nguyen, Hoai-Nghia Giang, Hoa Tu, Lan N. |
author_sort | Tran, Van Thuan |
collection | PubMed |
description | BACKGROUND: Hereditary cancer syndromes (HCS) are responsible for 5-10% of cancer cases. Genetic testing to identify pathogenic variants associated with cancer predisposition has not been routinely available in Vietnam. Consequently, the prevalence and genetic landscape of HCS remain unknown. METHODS: 1165 Vietnamese individuals enrolled in genetic testing at our laboratory in 2020. We performed analysis of germline mutations in 17 high- and moderate- penetrance genes associated with HCS by next generation sequencing. RESULTS: A total of 41 pathogenic variants in 11 genes were detected in 3.2% individuals. The carrier frequency was 4.2% in people with family or personal history of cancer and 2.6% in those without history. The percentage of mutation carriers for hereditary colorectal cancer syndromes was 1.3% and for hereditary breast and ovarian cancer syndrome was 1.6%. BRCA1 and BRCA2 mutations were the most prevalent with the positive rate of 1.3% in the general cohort and 5.1% in breast or ovarian cancer patients. Most of BRCA1 mutations located at the BRCA C-terminus domains and the top recurrent mutation was NM_007294.3:c.5251C>T (p.Arg1751Ter). One novel variant NM_000038.6(APC):c.6665C>A (p.Pro2222His) was found in a breast cancer patient with a strong family history of cancer. A case study of hereditary cancer syndrome was illustrated to highlight the importance of genetic testing. CONCLUSION: This is the first largest analysis of carrier frequency and mutation spectrum of HCS in Vietnam. The findings demonstrate the clinical significance of multigene panel testing to identify carriers and their at-risk relatives for better cancer surveillance and management strategies. |
format | Online Article Text |
id | pubmed-8767154 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-87671542022-01-20 Pathogenic Variant Profile of Hereditary Cancer Syndromes in a Vietnamese Cohort Tran, Van Thuan Nguyen, Sao Trung Pham, Xuan Dung Phan, Thanh Hai Nguyen, Van Chu Nguyen, Huu Thinh Nguyen, Huu Phuc Doan, Phuong Thao Thi Le, Tuan Anh Nguyen, Bao Toan Jasmine, Thanh Xuan Nguyen, Duy Sinh Nguyen, Hong-Dang Luu Nguyen, Ngoc Mai Do, Duy Xuan Tran, Vu Uyen Nguyen, Hue Hanh Thi Le, Minh Phong Nguyen, Yen Nhi Do, Thanh Thuy Thi Truong, Dinh Kiet Tang, Hung Sang Phan, Minh-Duy Nguyen, Hoai-Nghia Giang, Hoa Tu, Lan N. Front Oncol Oncology BACKGROUND: Hereditary cancer syndromes (HCS) are responsible for 5-10% of cancer cases. Genetic testing to identify pathogenic variants associated with cancer predisposition has not been routinely available in Vietnam. Consequently, the prevalence and genetic landscape of HCS remain unknown. METHODS: 1165 Vietnamese individuals enrolled in genetic testing at our laboratory in 2020. We performed analysis of germline mutations in 17 high- and moderate- penetrance genes associated with HCS by next generation sequencing. RESULTS: A total of 41 pathogenic variants in 11 genes were detected in 3.2% individuals. The carrier frequency was 4.2% in people with family or personal history of cancer and 2.6% in those without history. The percentage of mutation carriers for hereditary colorectal cancer syndromes was 1.3% and for hereditary breast and ovarian cancer syndrome was 1.6%. BRCA1 and BRCA2 mutations were the most prevalent with the positive rate of 1.3% in the general cohort and 5.1% in breast or ovarian cancer patients. Most of BRCA1 mutations located at the BRCA C-terminus domains and the top recurrent mutation was NM_007294.3:c.5251C>T (p.Arg1751Ter). One novel variant NM_000038.6(APC):c.6665C>A (p.Pro2222His) was found in a breast cancer patient with a strong family history of cancer. A case study of hereditary cancer syndrome was illustrated to highlight the importance of genetic testing. CONCLUSION: This is the first largest analysis of carrier frequency and mutation spectrum of HCS in Vietnam. The findings demonstrate the clinical significance of multigene panel testing to identify carriers and their at-risk relatives for better cancer surveillance and management strategies. Frontiers Media S.A. 2022-01-05 /pmc/articles/PMC8767154/ /pubmed/35070997 http://dx.doi.org/10.3389/fonc.2021.789659 Text en Copyright © 2022 Tran, Nguyen, Pham, Phan, Nguyen, Nguyen, Nguyen, Doan, Le, Nguyen, Jasmine, Nguyen, Nguyen, Nguyen, Do, Tran, Nguyen, Le, Nguyen, Do, Truong, Tang, Phan, Nguyen, Giang and Tu https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Oncology Tran, Van Thuan Nguyen, Sao Trung Pham, Xuan Dung Phan, Thanh Hai Nguyen, Van Chu Nguyen, Huu Thinh Nguyen, Huu Phuc Doan, Phuong Thao Thi Le, Tuan Anh Nguyen, Bao Toan Jasmine, Thanh Xuan Nguyen, Duy Sinh Nguyen, Hong-Dang Luu Nguyen, Ngoc Mai Do, Duy Xuan Tran, Vu Uyen Nguyen, Hue Hanh Thi Le, Minh Phong Nguyen, Yen Nhi Do, Thanh Thuy Thi Truong, Dinh Kiet Tang, Hung Sang Phan, Minh-Duy Nguyen, Hoai-Nghia Giang, Hoa Tu, Lan N. Pathogenic Variant Profile of Hereditary Cancer Syndromes in a Vietnamese Cohort |
title | Pathogenic Variant Profile of Hereditary Cancer Syndromes in a Vietnamese Cohort |
title_full | Pathogenic Variant Profile of Hereditary Cancer Syndromes in a Vietnamese Cohort |
title_fullStr | Pathogenic Variant Profile of Hereditary Cancer Syndromes in a Vietnamese Cohort |
title_full_unstemmed | Pathogenic Variant Profile of Hereditary Cancer Syndromes in a Vietnamese Cohort |
title_short | Pathogenic Variant Profile of Hereditary Cancer Syndromes in a Vietnamese Cohort |
title_sort | pathogenic variant profile of hereditary cancer syndromes in a vietnamese cohort |
topic | Oncology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8767154/ https://www.ncbi.nlm.nih.gov/pubmed/35070997 http://dx.doi.org/10.3389/fonc.2021.789659 |
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