Ontology highlight
ABSTRACT: 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.
SUBMITTER: Tran VT
PROVIDER: S-EPMC8767154 | biostudies-literature | 2021
REPOSITORIES: biostudies-literature
Tran Van Thuan VT Nguyen Sao Trung ST Pham Xuan Dung XD Phan Thanh Hai TH Nguyen Van Chu VC Nguyen Huu Thinh HT Nguyen Huu Phuc HP Doan Phuong Thao Thi PTT Le Tuan Anh TA Nguyen Bao Toan BT Jasmine Thanh Xuan TX Nguyen Duy Sinh DS Nguyen Hong-Dang Luu HL Nguyen Ngoc Mai NM Do Duy Xuan DX Tran Vu Uyen VU Nguyen Hue Hanh Thi HHT Le Minh Phong MP Nguyen Yen Nhi YN Do Thanh Thuy Thi TTT Truong Dinh Kiet DK Tang Hung Sang HS Phan Minh-Duy MD Nguyen Hoai-Nghia HN Giang Hoa H Tu Lan N LN
Frontiers in oncology 20220105
<h4>Background</h4>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.<h4>Methods</h4>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 wit ...[more]