Pathogenic Variant Profile of Hereditary Cancer Syndromes in a Vietnamese Cohort
BackgroundHereditary 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.Methods11...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-01-01
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| Series: | Frontiers in Oncology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2021.789659/full |
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| author | Van Thuan Tran Sao Trung Nguyen Xuan Dung Pham Thanh Hai Phan Van Chu Nguyen Huu Thinh Nguyen Huu Phuc Nguyen Phuong Thao Thi Doan Tuan Anh Le Bao Toan Nguyen Thanh Xuan Jasmine Duy Sinh Nguyen Hong-Dang Luu Nguyen Hong-Dang Luu Nguyen Ngoc Mai Nguyen Ngoc Mai Nguyen Duy Xuan Do Duy Xuan Do Vu Uyen Tran Vu Uyen Tran Hue Hanh Thi Nguyen Hue Hanh Thi Nguyen Minh Phong Le Minh Phong Le Yen Nhi Nguyen Yen Nhi Nguyen Thanh Thuy Thi Do Dinh Kiet Truong Hung Sang Tang Hung Sang Tang Minh-Duy Phan Minh-Duy Phan Hoai-Nghia Nguyen Hoa Giang Hoa Giang Lan N. Tu Lan N. Tu |
| author_facet | Van Thuan Tran Sao Trung Nguyen Xuan Dung Pham Thanh Hai Phan Van Chu Nguyen Huu Thinh Nguyen Huu Phuc Nguyen Phuong Thao Thi Doan Tuan Anh Le Bao Toan Nguyen Thanh Xuan Jasmine Duy Sinh Nguyen Hong-Dang Luu Nguyen Hong-Dang Luu Nguyen Ngoc Mai Nguyen Ngoc Mai Nguyen Duy Xuan Do Duy Xuan Do Vu Uyen Tran Vu Uyen Tran Hue Hanh Thi Nguyen Hue Hanh Thi Nguyen Minh Phong Le Minh Phong Le Yen Nhi Nguyen Yen Nhi Nguyen Thanh Thuy Thi Do Dinh Kiet Truong Hung Sang Tang Hung Sang Tang Minh-Duy Phan Minh-Duy Phan Hoai-Nghia Nguyen Hoa Giang Hoa Giang Lan N. Tu Lan N. Tu |
| author_sort | Van Thuan Tran |
| collection | DOAJ |
| description | BackgroundHereditary 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.Methods1165 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.ResultsA 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.ConclusionThis 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. |
| first_indexed | 2024-04-11T20:41:45Z |
| format | Article |
| id | doaj.art-7c1065ac4dc3424bbe627d9a5f04306c |
| institution | Directory Open Access Journal |
| issn | 2234-943X |
| language | English |
| last_indexed | 2024-04-11T20:41:45Z |
| publishDate | 2022-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Oncology |
| spelling | doaj.art-7c1065ac4dc3424bbe627d9a5f04306c2022-12-22T04:04:12ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2022-01-011110.3389/fonc.2021.789659789659Pathogenic Variant Profile of Hereditary Cancer Syndromes in a Vietnamese CohortVan Thuan Tran0Sao Trung Nguyen1Xuan Dung Pham2Thanh Hai Phan3Van Chu Nguyen4Huu Thinh Nguyen5Huu Phuc Nguyen6Phuong Thao Thi Doan7Tuan Anh Le8Bao Toan Nguyen9Thanh Xuan Jasmine10Duy Sinh Nguyen11Hong-Dang Luu Nguyen12Hong-Dang Luu Nguyen13Ngoc Mai Nguyen14Ngoc Mai Nguyen15Duy Xuan Do16Duy Xuan Do17Vu Uyen Tran18Vu Uyen Tran19Hue Hanh Thi Nguyen20Hue Hanh Thi Nguyen21Minh Phong Le22Minh Phong Le23Yen Nhi Nguyen24Yen Nhi Nguyen25Thanh Thuy Thi Do26Dinh Kiet Truong27Hung Sang Tang28Hung Sang Tang29Minh-Duy Phan30Minh-Duy Phan31Hoai-Nghia Nguyen32Hoa Giang33Hoa Giang34Lan N. Tu35Lan N. Tu36Ministry of Health, Hanoi, VietnamUniversity of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, VietnamOncology Hospital, Ho Chi Minh City, VietnamMEDIC Medical Center, Ho Chi Minh City, VietnamVietnam National Cancer Hospital, Hanoi, VietnamUniversity Medical Center Ho Chi Minh City, Ho Chi Minh City, VietnamUniversity Medical Center Ho Chi Minh City, Ho Chi Minh City, VietnamUniversity of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, VietnamCho Ray Hospital, Ho Chi Minh City, VietnamMEDIC Medical Center, Ho Chi Minh City, VietnamMEDIC Medical Center, Ho Chi Minh City, VietnamDepartment of Oncology, Faculty of Medicine, Nguyen Tat Thanh University, Ho Chi Minh City, VietnamMedical Genetics Institute, Ho Chi Minh City, Vietnam0Gene Solutions, Ho Chi Minh City, VietnamMedical Genetics Institute, Ho Chi Minh City, Vietnam0Gene Solutions, Ho Chi Minh City, VietnamMedical Genetics Institute, Ho Chi Minh City, Vietnam0Gene Solutions, Ho Chi Minh City, VietnamMedical Genetics Institute, Ho Chi Minh City, Vietnam0Gene Solutions, Ho Chi Minh City, VietnamMedical Genetics Institute, Ho Chi Minh City, Vietnam0Gene Solutions, Ho Chi Minh City, VietnamMedical Genetics Institute, Ho Chi Minh City, Vietnam0Gene Solutions, Ho Chi Minh City, VietnamMedical Genetics Institute, Ho Chi Minh City, Vietnam0Gene Solutions, Ho Chi Minh City, VietnamMedical Genetics Institute, Ho Chi Minh City, VietnamMedical Genetics Institute, Ho Chi Minh City, VietnamMedical Genetics Institute, Ho Chi Minh City, Vietnam0Gene Solutions, Ho Chi Minh City, VietnamMedical Genetics Institute, Ho Chi Minh City, Vietnam0Gene Solutions, Ho Chi Minh City, VietnamUniversity of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, VietnamMedical Genetics Institute, Ho Chi Minh City, Vietnam0Gene Solutions, Ho Chi Minh City, VietnamMedical Genetics Institute, Ho Chi Minh City, Vietnam0Gene Solutions, Ho Chi Minh City, VietnamBackgroundHereditary 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.Methods1165 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.ResultsA 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.ConclusionThis 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.https://www.frontiersin.org/articles/10.3389/fonc.2021.789659/fullhereditary cancer syndromepathogenic variantgenetic carrier screeningcarrier frequencyBRCA1 |
| spellingShingle | Van Thuan Tran Sao Trung Nguyen Xuan Dung Pham Thanh Hai Phan Van Chu Nguyen Huu Thinh Nguyen Huu Phuc Nguyen Phuong Thao Thi Doan Tuan Anh Le Bao Toan Nguyen Thanh Xuan Jasmine Duy Sinh Nguyen Hong-Dang Luu Nguyen Hong-Dang Luu Nguyen Ngoc Mai Nguyen Ngoc Mai Nguyen Duy Xuan Do Duy Xuan Do Vu Uyen Tran Vu Uyen Tran Hue Hanh Thi Nguyen Hue Hanh Thi Nguyen Minh Phong Le Minh Phong Le Yen Nhi Nguyen Yen Nhi Nguyen Thanh Thuy Thi Do Dinh Kiet Truong Hung Sang Tang Hung Sang Tang Minh-Duy Phan Minh-Duy Phan Hoai-Nghia Nguyen Hoa Giang Hoa Giang Lan N. Tu Lan N. Tu Pathogenic Variant Profile of Hereditary Cancer Syndromes in a Vietnamese Cohort Frontiers in Oncology hereditary cancer syndrome pathogenic variant genetic carrier screening carrier frequency BRCA1 |
| 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 | hereditary cancer syndrome pathogenic variant genetic carrier screening carrier frequency BRCA1 |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2021.789659/full |
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