Evidence map›Paper›PMID 39516406›Full record

ArticleBJC reports2024

Breast cancer risk assessment based on susceptibility genes and polygenic risk score in Vietnamese women.

Dao Nguyen Vinh, Thanh Thi Ngoc Nguyen, Tuan-Anh Nguyen Tran, Phuoc-Loc Doan, Van-Anh Nguyen Hoang, Minh-Duy Phan, Hoa Giang, Hoai-Nghia Nguyen, Hue Thi Nguyen, Lan N Tu

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Article in BJC reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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2citing papers in PubMed
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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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2 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Dao Nguyen Vinh *Medical Genetics Institute, Ho Chi Minh City, Vietnam.
Thanh Thi Ngoc Nguyen *Human Genetics Laboratory, Faculty of Biology and Biotechnology, University of Science, Ho Chi Minh City, Vietnam.
Tuan-Anh Nguyen TranMedical Genetics Institute, Ho Chi Minh City, Vietnam.
Phuoc-Loc DoanMedical Genetics Institute, Ho Chi Minh City, Vietnam.
Van-Anh Nguyen HoangMedical Genetics Institute, Ho Chi Minh City, Vietnam.
Minh-Duy PhanMedical Genetics Institute, Ho Chi Minh City, Vietnam.
Hoa GiangMedical Genetics Institute, Ho Chi Minh City, Vietnam.
Hoai-Nghia NguyenMedical Genetics Institute, Ho Chi Minh City, Vietnam.
Hue Thi NguyenHuman Genetics Laboratory, Faculty of Biology and Biotechnology, University of Science, Ho Chi Minh City, Vietnam. nthue@hcmus.edu.vn.
Lan N TuMedical Genetics Institute, Ho Chi Minh City, Vietnam. lantu@genesolutions.vn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundBreast screening recommendation based on individual risk assessment is emerging as an alternative approach to improve compliance and efficiency to detect breast cancer (BC) early. In Vietnam, prior knowledge to stratify risk based on genetic factors is currently lacking.

methodsThis study recruited 892 BC patients and 735 healthy Vietnamese women from 2016 to 2021. DNA from blood samples of BC patients was first analyzed for pathogenic variants associated with hereditary breast and ovarian cancer syndrome (HBOC). For patients with no HBOC and healthy participants, DNA was genotyped for 398 BC susceptibility single-nucleotide polymorphism (SNPs) by next-generation sequencing to identify significantly associated SNPs and construct a polygenic risk score (PRS).

resultsThe prevalence of HBOC predisposition gene mutations in Vietnamese women with BC was 5.4%. HBOC cases were significantly younger and enriched in the age group of 20-39 years old. In patients with no HBOC, we found 36 SNPs significantly associated with BC that were mostly similar to other Asian ethnicities; 34 of them were used to build a PRS model achieving an area under the receiver operating characteristics curve of 0.61 (95% CI: 0.56-0.68). Women in the top 1% PRS percentile had an odds ratio of 5.09 (95% CI: 3.10-7.86) while those in the bottom 1% had an odds ratio of 0.21 (95% CI: 0.09-0.39) to develop BC.

conclusionsThis study provides the first large datasets for HBOC gene analysis, BC susceptibility SNP association testing, and PRS modeling for Vietnamese women. Together, these data could aid the development of personalized BC screening recommendations for women in Vietnam.

Identifiers

PMID39516406
PMCPMC11524051

What Socratic holds

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LicenceCC BY-NC-ND
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.