Ngôn ngữ sử dụng
Cách trích dẫn
Nguyễn, L. H. Đăng, Tăng, H. S., Phan, N. M., Nguyễn, T. T., Nguyễn, D. Q., Tiêu, B. L., Nguyễn, T. H. H., Nguyễn, Y. N., Trần, V. U., Lê, M. P., Nguyễn, D. S., Phan, M. D., Từ, N. L. L., Giang, H., Nguyễn, H. N., Trương, Đình K., & Đỗ, T. T. T. (2022). Tần suất và phổ đột biến gen của Hội chứng ung thư vú và buồng trứng di truyền trên quần thể người Việt Nam. Tạp Chí Phụ sản, 20(3), 130-135. https://doi.org/10.46755/vjog.2022.3.1433
Tóm tắt
Mục tiêu: Hội chứng ung thư di truyền (HCS) chiếm khoảng 5-10% tổng số ca mắc ung thư, với Hội chứng ung thư vú và buồng trứng di truyền (HBOC) là nguyên nhân thường gặp nhất. Xét nghiệm gen sàng lọc biến thể gây bệnh liên quan nguy cơ mắc ung thư chưa được thực hiện thường quy tại Việt Nam. Do đó, tần suất lưu hành và phổ đột biến HBOC tại Việt Nam vẫn chưa được ghi nhận.
Đối tượng và phương pháp nghiên cứu: 1165 người Việt Nam được sử dụng công nghệ giải trình tự gen thế hệ mới phân tích 2 gen liên quan HBOC có độ thấm từ trung bình đến cao.
Kết quả: Tần suất mang gen đột biến liên quan HBOC là 1,3% ở quần thể chung và 4,3% trên nhóm có nguy cơ cao mắc ung thư vú và/hoặc buồng trứng di truyền. Biến thể thường gặp nhất: NM_007294.3:c.5251C>T (p.Arg1751Ter).
Kết luận: Đây là nghiên cứu đầu tiên và lớn nhất về tần suất và phổ đột biến HBOC ở Việt Nam, cho thấy ý nghĩa lâm sàng của xét nghiệm di truyền khảo sát đa gen sàng lọc người mang đột biến và nguy cơ ung thư liên quan để có chiến lược quản lý hiệu quả.
Từ khóa
Tài liệu tham khảo
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14. Wen WX, Allen J, Lai KN, Mariapun S, Hasan SN, Ng PS, et al. Inherited Mutations in BRCA1 and BRCA2 in an Unselected Multiethnic Cohort of Asian Patients With Breast Cancer and Healthy Controls From Malaysia. J Med Genet. 2018; 55:97–103.
15. Liede A, Narod SA. Hereditary breast and ovarian cancer in Asia: genetic epidemiology of BRCA1 and BRCA2. Hum Mutat. 2002 Dec; 20(6):413-24.
16. Vu HA, Phu ND, Khuong LT, Hoa PH, Nhu BTH, Nhan VT, et al. Recurrent BRCA1 Mutation, But No BRCA2 Mutation, in Vietnamese Patients With Ovarian Carcinoma Detected With Next Generation Sequencing. Asian Pac J Cancer Prev. 2020; 21:2331–5.
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19. Rosenthal SH, Sun W, Zhang K, Liu Y, Nguyen Q, Gerasimova A, et al. Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing. BioMed Res Int .2020 Jan 22; 2020:3289023.
20. Dong H, Chandratre K, Qin Y, Zhang J, Tian X, Rong C, et al. Prevalence of BRCA1/BRCA2 Pathogenic Variation in Chinese Han Population. J Med Genet. 2021; 58:565–9.
2. Rahner N, Steinke V. Hereditary Cancer Syndromes. Dtsch Arztebl Int. 2008; 105:706–14.
3. Lichtenstein P, Holm NV, Verkasalo PK, Iliadou A, Kaprio J, Koskenvuo M, et al. Environmental and Heritable Factors in the Causation of Cancer–Analyses of Cohorts of Twins From Sweden, Denmark, and Finland. N Engl J Med. 2000; 343:78–85.
4. Yoshida R. Hereditary Breast and Ovarian Cancer (HBOC): Review of Its Molecular Characteristics, Screening, Treatment, and Prognosis. Breast Cancer. 2021; 28:1167–80.
5. cdc.gov [homepage on the Internet]. Hereditary Breast and Ovarian Cancer Syndrome: A Guide for Patients and Their Families [updated 2016 Jan 11; cited 2022 Jul 7]. Available from: https://www.cdc.gov/
6. Daly MB, Pilarski R, Yurgelun MB, Berry MP, Buys SS, Dickson P, et al. NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1. 2020 J Natl Compr Canc Netw. 2020; 18:380–91.
7. Gupta S, Provenzale D, Llor X, Halverson AL, Grady W, Chung DC, et al. NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 2. 2019 J Natl Compr Canc Netw. 2019; 17:1032–41.
8. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May; 17(5):405-24.
9. Abul-Husn NS, Soper ER, Odgis JA, Cullina S, Bobo D, Moscati A, et al. Exome Sequencing Reveals a High Prevalence of BRCA1 and BRCA2 Founder Variants in a Diverse Population-Based Biobank. Genome Med. 2019; 12:2.
10. Liu Y, Wang H, Wang X, Liu J, Li J, Wang X, et al. Prevalence and Reclassification of BRCA1 and BRCA2 Variants in a Large, Unselected Chinese Han Breast Cancer Cohort. J Hematol Oncol. 2021; 14:18.
11. Tsaousis GN, Papadopoulou E, Apessos A, Agiannitopoulos K, Pepe G, Kampouri S, et al. Analysis of Hereditary Cancer Syndromes by Using a Panel of Genes: Novel and Multiple Pathogenic Mutations. BMC Cancer. 2019; 19:535.
12. Kadri MSN, Patel KM, Bhargava PA, Shah FD, Badgujar NV, Tarapara BV, et al. Mutational Landscape for Indian Hereditary Breast and Ovarian Cancer Cohort Suggests Need for Identifying Population Specific Genes and Biomarkers for Screening. Front Oncol. 2020; 10:568786.
13. Kaneyasu T, Mori S, Yamauchi H, Ohsumi S, Ohno S, Aoki D, et al. Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome. NPJ Breast Cancer. 2020 Jun 12; 6:25.
14. Wen WX, Allen J, Lai KN, Mariapun S, Hasan SN, Ng PS, et al. Inherited Mutations in BRCA1 and BRCA2 in an Unselected Multiethnic Cohort of Asian Patients With Breast Cancer and Healthy Controls From Malaysia. J Med Genet. 2018; 55:97–103.
15. Liede A, Narod SA. Hereditary breast and ovarian cancer in Asia: genetic epidemiology of BRCA1 and BRCA2. Hum Mutat. 2002 Dec; 20(6):413-24.
16. Vu HA, Phu ND, Khuong LT, Hoa PH, Nhu BTH, Nhan VT, et al. Recurrent BRCA1 Mutation, But No BRCA2 Mutation, in Vietnamese Patients With Ovarian Carcinoma Detected With Next Generation Sequencing. Asian Pac J Cancer Prev. 2020; 21:2331–5.
17. Ginsburg OM, Dinh NV, To TV, Quang LH, Linh ND, Duong BT, et al. Family History, BRCA Mutations and Breast Cancer in Vietnamese Women. Clin Genet. 2011; 80:89–92.
18. di Masi A, Gullotta F, Cappadonna V, Leboffe L, Ascenzi P. Cancer Predisposing Mutations in BRCT Domains. IUBMB Life. 2011; 63:503–12.
19. Rosenthal SH, Sun W, Zhang K, Liu Y, Nguyen Q, Gerasimova A, et al. Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing. BioMed Res Int .2020 Jan 22; 2020:3289023.
20. Dong H, Chandratre K, Qin Y, Zhang J, Tian X, Rong C, et al. Prevalence of BRCA1/BRCA2 Pathogenic Variation in Chinese Han Population. J Med Genet. 2021; 58:565–9.
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