Identification of genetic variants in Vietnamese patients with breast cancer by whole exome sequencing

Duc Huan Le; Thi Kim Lien Nguyen; Ngoc Lan Nguyen; Thi Thanh Huong Tran Tran; Thi Huyen Phung; Van Chu Nguyen; Van Dung Tran; Hong Huy Luu; Chi Kien Dong; Van Manh Dang; Minh Long Duong; Thi Hien Anh Nguyen; Ngoc My Le; Hong Hanh Ha; Van Tung Nguyen

doi:10.15625/vjbt-23548

Author affiliations

Authors

Duc Huan Le \(^1\) Institute of Biology, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet, Nghia Do, Hanoi, Vietnam
\(^2\) Graduate University of Science and Technology, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet, Nghia Do, Hanoi, Vietnam
Thi Kim Lien Nguyen \(^1\) Institute of Biology, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet, Nghia Do, Hanoi, Vietnam
Ngoc Lan Nguyen \(^3\) Center for Gene and Protein Research, Hanoi Medical University, 1 Ton That Tung Street, Hanoi 11521, Vietnam
Thi Thanh Huong Tran Tran \(^4\) Viet Nam National Cancer Institute, K Hospital, 43 Quan Su, Cua Nam, Hanoi, Vietnam
Thi Huyen Phung \(^5\) Department of Medical Oncology 6, K Hospital, 30 Cau Buou, Thanh Liet, Hanoi, Vietnam
Van Chu Nguyen \(^6\) Quan Su Cytopathology Department, K Hospital, 43 Quan Su, Cua Nam, Hanoi, Vietnam
Van Dung Tran \(^7\) Department of International Collaboration and Research, K Hospital, 30 Cau Buou, Thanh Liet, Hanoi, Vietnam
Hong Huy Luu Department of International Collaboration and Research, K Hospital, Hanoi, Vietnam
Chi Kien Dong \(^8\) Department of Medical Oncology 5, K Hospital, 30 Cau Buou, Thanh Liet, Hanoi, Vietnam
Van Manh Dang \(^5\) Department of Medical Oncology 6, K Hospital, 30 Cau Buou, Thanh Liet, Hanoi, Vietnam
Minh Long Duong \(^6\) Quan Su Cytopathology Department, K Hospital, 43 Quan Su, Cua Nam, Hanoi, Vietnam
Thi Hien Anh Nguyen \(^9\) Douglass Hanly Moir Pty. Sonic Health, 333-339 Geoger Street, Sydney, Australia
Ngoc My Le \(^10\) Microbiology Department, Blood Transfusion and Hematology Hospital, 118 Hong Bang street, Cho Lon, Ho Chi Minh city, Vietnam
Hong Hanh Ha \(^1\) Institute of Biology, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet, Nghia Do, Hanoi, Vietnam
Van Tung Nguyen \(^1\) Institute of Biology, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet, Nghia Do, Hanoi, Vietnam https://orcid.org/0000-0003-4624-5567

DOI:

https://doi.org/10.15625/vjbt-23548

Keywords:

BRCA1, BARD1, breast cancer, genetic variants, Vietnamese patient, whole exome sequencing (WES).

Abstract

Breast cancer is becoming the most common type of cancer among women in Vietnam and globally, in terms of both incidence and mortality rates. In addition to factors such as lifestyle habits and environmental exposure, genetic mutations are a significant concern in the development of this disease. Identifying these mutations is essential for understanding hereditary risks and improving early diagnosis. In this study, we utilized whole exome sequencing (WES) to analyze and identify genetic mutations potentially associated with breast cancer in ten affected women. All patients had at least one family member diagnosed with breast cancer, ovarian cancer, or other types of cancer, suggesting a hereditary component. The analysis and screening process focused on mutations in breast cancer-related genes with a minor allele frequency (MAF) of less than 1%. The screening results indicated that five out of ten patients carried only benign mutations, whereas pathogenic mutations were identified in three patients. Specifically, two heterozygous mutations, c.5314C>T (p.Arg1772Ter) and c.66dupA (p.Glu23ArgfsTer18), both located in the BRCA1 gene, along with a frameshift variant, c.1350dupT (p.Gly451TrpfsTer3), in the BARD1 gene, were identified. These mutations caused the introduction of premature stop codons, leading to truncated protein products with a significant impact on gene/protein function. Our findings provide a deeper understanding of the genetic basis of breast cancer and contribute to improving the genetic diagnosis of familial breast cancer in Vietnam.

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