Ấn phẩm:
Genetic variants associated with breast cancer are detected by whole-exome sequencing in Vietnamese patients
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Background: Breast cancer (BC) is the most common cancer and the leading cause of
cancer death in women. Hereditary BC risk accounts for 25% of all cases. Pathological
variants in known BC precursor genes explain only about 30% of hereditary BC cases, while
the underlying genetic factors in most families remain unknown. Identifying hereditary
cancer risk factors will help improve genetic counseling, cancer prevention, and cancer
care. Methods: Here, we used whole-exome sequencing (WES) to identify genetic variants
in 105 Vietnamese patients with BC and 50 healthy women. BC-associated variants were
screened by the Franklin software and the criteria of the American College of Medical
Genetics and Genomics (ACMG) and evaluated based on in silico analysis. Results: In
total, 56 variants were identified in 37 genes associated with BC, including ACVR1B, APC,
AR, ARFGEF1, ATM, ATR, BARD1, BLM, BRCA1, BRCA2, CASP8, CASR, CHD8, CTNNB1,
ESR1, FAN1, FGFR2, HMMR, KLLN, LZTR1, MCPH1, MLH1, MSH2, MSH3, MSH6, NF1,
PMS2, PRKN, RAD54L, RB1CC1, RECQL, SLC22A18, SLX4, SPTBN1, TP53, WRN, and
XRCC3 in 41 patients. Among them, 12 variants were novel, and 10 variants were assessed
as pathogenic/likely pathogenic by ACMG and ClinVar. Variants of uncertain significance
(VUS) were evaluated using in silico prediction software to predict whether they are likely
to cause the disease in patients. Conclusions: This is the first WES study to identify BCassociated genetic variants in Vietnamese patients, providing a comprehensive database of
BC susceptibility gene variants. We suggest using WES as a tool to identify genetic variants
in BC patients for risk prediction and treatment guidance.
Tác giả
Nguyen, Van Tung
Người hướng dẫn
Nơi xuất bản
Nhà xuất bản
Năm xuất bản
2025
ISSN tạp chí
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Từ khóa chủ đề
Health care
Bộ sưu tập
Tài liệu tham khảo
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