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Seven-Single Nucleotide Polymorphism Polygenic Risk Score for Breast Cancer Risk Prediction in a Vietnamese Population

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Abstract

Multiple common variations discovered via genome-wide association studies (GWASs) were shown to have a minimal association with breast cancer (BC) risk in Vietnamese women. This study analyzed the cumulative effect in predicting BC risk of ten single nucleotide polymorphisms (SNPs) identified by previous GWAS and were common in Vietnamese. In this case-control research, 240 BC patients and 271 healthy controls were recruited to assess candidate SNPs’ association with BC risk. A polygenic risk score (PRS) was then created from SNPs strongly related to the risk of BC among the assessed population. The area under the receiver operating characteristic curve (AUC) was used to assess the effectiveness of the PRS model with BC risk. Logistic regression results showed seven individual SNPs (rs2155209, rs4784227, rs2605039, rs3817198, rs2981582, rs11614913, and rs12325489) were significantly associated with BC risk after multiple testing. These SNPs were then used to create the PRS model. Compared with women in the lowest quartile, women in the highest quartile of PRS had a considerably higher risk (odds ratio 2.65; 95% confidence interval (95% CI) 1.61–4.40) with AUC at 71%. These findings suggest that the 7-SNP PRS would effectively distinguish between women with high and low risk of BC, indicating the genetic marker for BC risk prediction in a Vietnamese population.

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FUNDING

This research is funded by University of Science, VNU-HCM under grant number T2021-50.

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Authors and Affiliations

  1. Faculty of Biology and Biotechnology, University of Science, 700000, Ho Chi Minh City, Vietnam

    Thanh Thi Ngoc Nguyen, Hoang Ngo Phan & Hue Thi Nguyen

  2. Vietnam National University, 700000, Ho Chi Minh City, Vietnam

    Thanh Thi Ngoc Nguyen, Thu Huynh Ngoc Nguyen, Hoang Ngo Phan & Hue Thi Nguyen

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  1. Thanh Thi Ngoc Nguyen
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  2. Thu Huynh Ngoc Nguyen
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  4. Hue Thi Nguyen
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Correspondence to Thanh Thi Ngoc Nguyen.

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Statement of compliance with standards of research involving humans as subjects. During research enrollment, participants signed informed consent. The Ethical Committee approved this study of Oncology Hospital Ho Chi Minh City (no. 177/ÐÐÐ-CÐT November 18th, 2014).

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Thanh Thi Ngoc Nguyen, Nguyen, T.H., Phan, H.N. et al. Seven-Single Nucleotide Polymorphism Polygenic Risk Score for Breast Cancer Risk Prediction in a Vietnamese Population. Cytol. Genet. 56, 379–390 (2022). https://doi.org/10.3103/S0095452722040065

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