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Published: 2024-01-20
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DOI: https://doi.org/10.52852/tcncyh.v172i11.2128
Issue
Vol. 172 No. 11 (2023)
Section
Các bài báo
How to Cite
Giang, P. H., Thắm, H. H., Nam, V. S., Quân, N. H., Huy, T. L. ., Giang, V. M., Yến, H., & Thịnh, T. H. (2024). 4. Investing genetic variations associated with breast cancer using RNA sequencing data. Journal of Medical Research, 172(11), 32-42. https://doi.org/10.52852/tcncyh.v172i11.2128

4. Investing genetic variations associated with breast cancer using RNA sequencing data

Phan Huy Giang, Hoang Hong Tham, Vo Sy Nam, Nguyen Hoang Quan, Trinh Le Huy, Vu Minh Giang, Hoang Yen, Tran Huy Thinh

Main Article Content

Abstract

This study aims to investigate gene genetic variants associated with breast cancer using RNA sequencing (RNA-seq) data. We conducted a study with 5 breast cancer (BC) patients and 8 controls from 1000 Vietnamese genomes project (VN1K) data. Over 5 women with breast cancer and 8 healthy controls of similar age. We apply a cross-sectional method to understand germline variants present in breast cancer patients through RNA sequencing of blood samples. By analyzing the RNA-seq data, we identified 143 genes with significant expression differences between the BC group and the healthy controls. Next, we observed a total of 3515 variants located on such genes. Among them, 8 variants have been reported to probably increase BC risk, 2 variants were included in the dbSNP, rs35400274 and rs34406374. rs35400274 forms a premature termination triplet located on the C17orf107 gene, reducing gene expression levels in the BC group, Log2FoldChange = -2,49 and p-value = 0,002, this variant has also been reported to be present in colorectal cancer patients in the COSMIC database. Meanwhile, rs7937 is associated with breast cancer traits in the GWAS-Catalog database due to its influence on Letrozole drug concentrations. Results from this study provide additional insights into the pathogenesis and impact of genetic variants on breast cancer risk in women.

Article Details

Keywords

Gene variation, breast cancer, RNA sequencing

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