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  1. Article ; Online: The genetic landscape of chromosomal aberrations in 3776 Vietnamese fetuses with clinical anomalies during pregnancy.

    Tran, Danh-Cuong / Phan, Minh Ngoc / Dao, Hong-Thuy Thi / Nguyen, Hong-Dang Luu / Nguyen, Duy-Anh / Le, Quang Thanh / Hoang, Diem-Tuyet Thi / Tran, Nhat Thang / Thi Ha, Thi Minh / Dinh, Thuy Linh / Nguyen, Canh Chuong / Thi Doan, Kim Phuong / Thi Luong, Lan Anh / Vo, Ta Son / Nhat Trinh, Thu Huong / Nguyen, Van Thong / Vo, Phuong-Anh Ngoc / Nguyen, Yen-Nhi / Dinh, My-An /
    Doan, Phuoc-Loc / Do, Thanh-Thuy Thi / Nguyen, Quynh-Tho Thi / Truong, Dinh-Kiet / Nguyen, Hoai-Nghia / Phan, Minh-Duy / Tang, Hung-Sang / Giang, Hoa

    Personalized medicine

    2024  

    Abstract: Background: ...

    Abstract Background:
    Language English
    Publishing date 2024-04-04
    Publishing country England
    Document type Journal Article
    ZDB-ID 2299146-3
    ISSN 1744-828X ; 1741-0541
    ISSN (online) 1744-828X
    ISSN 1741-0541
    DOI 10.2217/pme-2023-0113
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 6549: Show issues Location:
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    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)
    Zs.MG 73: Show issues

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  2. Article: 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

    Frontiers in oncology

    2022  Volume 11, Page(s) 789659

    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 ... ...

    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%.
    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.
    Language English
    Publishing date 2022-01-05
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2649216-7
    ISSN 2234-943X
    ISSN 2234-943X
    DOI 10.3389/fonc.2021.789659
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Genetic landscape of recessive diseases in the Vietnamese population from large-scale clinical exome sequencing.

    Tran, Ngoc Hieu / Nguyen Thi, Thanh-Huong / Tang, Hung-Sang / Hoang, Le-Phuc / Nguyen, Trung-Hieu Le / Tran, Nhat-Thang / Trinh, Thu-Huong Nhat / Nguyen, Van Thong / Nguyen, Bao-Han Huu / Nguyen, Hieu Trong / Doan, Loc Phuoc / Phan, Ngoc-Minh / Nguyen, Kim-Huong Thi / Nguyen, Hong-Dang Luu / Quach, Minh-Tam Thi / Nguyen, Thanh-Phuong Thi / Tran, Vu Uyen / Tran, Dinh-Vinh / Nguyen, Quynh-Tho Thi /
    Do, Thanh-Thuy Thi / Lam, Nien Vinh / Cao Thi Ngoc, Phuong / Truong, Dinh Kiet / Nguyen, Hoai-Nghia / Phan, Minh-Duy / Giang, Hoa

    Human mutation

    2021  Volume 42, Issue 10, Page(s) 1229–1238

    Abstract: Accurate profiling of population-specific recessive diseases is essential for the design of cost-effective carrier screening programs. However, minority populations and ethnic groups, including Vietnamese, are still underrepresented in existing genetic ... ...

    Abstract Accurate profiling of population-specific recessive diseases is essential for the design of cost-effective carrier screening programs. However, minority populations and ethnic groups, including Vietnamese, are still underrepresented in existing genetic studies. Here, we reported the first comprehensive study of recessive diseases in the Vietnamese population. Clinical exome sequencing data of 4503 disease-associated genes obtained from a cohort of 985 Vietnamese individuals was analyzed to identify pathogenic variants, associated diseases and their carrier frequencies in the population. A total of 118 recessive diseases associated with 164 pathogenic or likely pathogenic variants were identified, among which 28 diseases had carrier frequencies of at least 1% (1 in 100 individuals). Three diseases were prevalent in the Vietnamese population with carrier frequencies of 2-12 times higher than in the world populations, including beta-thalassemia (1 in 23), citrin deficiency (1 in 31), and phenylketonuria (1 in 40). Seven novel pathogenic and two likely pathogenic variants associated with nine recessive diseases were discovered. The comprehensive profile of recessive diseases identified in this study enables the design of cost-effective carrier screening programs specific to the Vietnamese population.
    MeSH term(s) Asians ; Cohort Studies ; Ethnicity ; Exome/genetics ; Humans ; Whole Exome Sequencing
    Language English
    Publishing date 2021-07-17
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1126646-6
    ISSN 1098-1004 ; 1059-7794
    ISSN (online) 1098-1004
    ISSN 1059-7794
    DOI 10.1002/humu.24253
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3586: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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  4. Article ; Online: Multimodal analysis of methylomics and fragmentomics in plasma cell-free DNA for multi-cancer early detection and localization.

    Nguyen, Van Thien Chi / Nguyen, Trong Hieu / Doan, Nhu Nhat Tan / Pham, Thi Mong Quynh / Nguyen, Giang Thi Huong / Nguyen, Thanh Dat / Tran, Thuy Thi Thu / Vo, Duy Long / Phan, Thanh Hai / Jasmine, Thanh Xuan / Nguyen, Van Chu / Nguyen, Huu Thinh / Nguyen, Trieu Vu / Nguyen, Thi Hue Hanh / Huynh, Le Anh Khoa / Tran, Trung Hieu / Dang, Quang Thong / Doan, Thuy Nguyen / Tran, Anh Minh /
    Nguyen, Viet Hai / Nguyen, Vu Tuan Anh / Ho, Le Minh Quoc / Tran, Quang Dat / Pham, Thi Thu Thuy / Ho, Tan Dat / Nguyen, Bao Toan / Nguyen, Thanh Nhan Vo / Nguyen, Thanh Dang / Phu, Dung Thai Bieu / Phan, Boi Hoan Huu / Vo, Thi Loan / Nai, Thi Huong Thoang / Tran, Thuy Trang / Truong, My Hoang / Tran, Ngan Chau / Le, Trung Kien / Tran, Thanh Huong Thi / Duong, Minh Long / Bach, Hoai Phuong Thi / Kim, Van Vu / Pham, The Anh / Tran, Duc Huy / Le, Trinh Ngoc An / Pham, Truong Vinh Ngoc / Le, Minh Triet / Vo, Dac Ho / Tran, Thi Minh Thu / Nguyen, Minh Nguyen / Van, Thi Tuong Vi / Nguyen, Anh Nhu / Tran, Thi Trang / Tran, Vu Uyen / Le, Minh Phong / Do, Thi Thanh / Phan, Thi Van / Nguyen, Hong-Dang Luu / Nguyen, Duy Sinh / Cao, Van Thinh / Do, Thanh-Thuy Thi / Truong, Dinh Kiet / Tang, Hung Sang / Giang, Hoa / Nguyen, Hoai-Nghia / Phan, Minh-Duy / Tran, Le Son

    eLife

    2023  Volume 12

    Abstract: Despite their promise, circulating tumor DNA (ctDNA)-based assays for multi-cancer early detection face challenges in test performance, due mostly to the limited abundance of ctDNA and its inherent variability. To address these challenges, published ... ...

    Abstract Despite their promise, circulating tumor DNA (ctDNA)-based assays for multi-cancer early detection face challenges in test performance, due mostly to the limited abundance of ctDNA and its inherent variability. To address these challenges, published assays to date demanded a very high-depth sequencing, resulting in an elevated price of test. Herein, we developed a multimodal assay called SPOT-MAS (screening for the presence of tumor by methylation and size) to simultaneously profile methylomics, fragmentomics, copy number, and end motifs in a single workflow using targeted and shallow genome-wide sequencing (~0.55×) of cell-free DNA. We applied SPOT-MAS to 738 non-metastatic patients with breast, colorectal, gastric, lung, and liver cancer, and 1550 healthy controls. We then employed machine learning to extract multiple cancer and tissue-specific signatures for detecting and locating cancer. SPOT-MAS successfully detected the five cancer types with a sensitivity of 72.4% at 97.0% specificity. The sensitivities for detecting early-stage cancers were 73.9% and 62.3% for stages I and II, respectively, increasing to 88.3% for non-metastatic stage IIIA. For tumor-of-origin, our assay achieved an accuracy of 0.7. Our study demonstrates comparable performance to other ctDNA-based assays while requiring significantly lower sequencing depth, making it economically feasible for population-wide screening.
    MeSH term(s) Humans ; Biomarkers, Tumor/blood ; Biomarkers, Tumor/genetics ; Cell-Free Nucleic Acids/blood ; Cell-Free Nucleic Acids/genetics ; Circulating Tumor DNA/blood ; Circulating Tumor DNA/genetics ; DNA, Neoplasm/blood ; DNA, Neoplasm/genetics ; Early Detection of Cancer/methods ; Liver Neoplasms ; Neoplasms/blood ; Neoplasms/diagnosis ; Neoplasms/genetics
    Chemical Substances Biomarkers, Tumor ; Cell-Free Nucleic Acids ; Circulating Tumor DNA ; DNA, Neoplasm
    Language English
    Publishing date 2023-10-11
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2687154-3
    ISSN 2050-084X ; 2050-084X
    ISSN (online) 2050-084X
    ISSN 2050-084X
    DOI 10.7554/eLife.89083
    Database MEDical Literature Analysis and Retrieval System OnLINE

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