Please use this identifier to cite or link to this item: https://doi.org/10.1186/s13058-016-0786-1
Title: Prediction of breast cancer risk based on common genetic variants in women of East Asian ancestry
Authors: Wen, W
Shu, X.-O
Guo, X
Keywords: ancestry group
Article
breast cancer
cancer risk
Chinese
controlled study
East Asian
female
gene locus
genetic association
genetic variability
genome-wide association study
genotype
human
Korean (people)
major clinical study
multifactorial inheritance
single nucleotide polymorphism
algorithm
Asia
Asian continental ancestry group
Breast Neoplasms
case control study
genetic association study
genetic predisposition
genetic variation
genetics
health survey
odds ratio
risk assessment
risk factor
statistical model
Algorithms
Asia
Asian Continental Ancestry Group
Breast Neoplasms
Case-Control Studies
Female
Genetic Association Studies
Genetic Predisposition to Disease
Genetic Variation
Genome-Wide Association Study
Humans
Models, Statistical
Odds Ratio
Population Surveillance
Risk Assessment
Risk Factors
Issue Date: 2016
Publisher: BioMed Central Ltd.
Citation: Wen, W, Shu, X.-O, Guo, X (2016). Prediction of breast cancer risk based on common genetic variants in women of East Asian ancestry. Breast Cancer Research 18 (1) : 124. ScholarBank@NUS Repository. https://doi.org/10.1186/s13058-016-0786-1
Rights: Attribution 4.0 International
Abstract: Background: Approximately 100 common breast cancer susceptibility alleles have been identified in genome-wide association studies (GWAS). The utility of these variants in breast cancer risk prediction models has not been evaluated adequately in women of Asian ancestry. Methods: We evaluated 88 breast cancer risk variants that were identified previously by GWAS in 11,760 cases and 11,612 controls of Asian ancestry. SNPs confirmed to be associated with breast cancer risk in Asian women were used to construct a polygenic risk score (PRS). The relative and absolute risks of breast cancer by the PRS percentiles were estimated based on the PRS distribution, and were used to stratify women into different levels of breast cancer risk. Results: We confirmed significant associations with breast cancer risk for SNPs in 44 of the 78 previously reported loci at P < 0.05. Compared with women in the middle quintile of the PRS, women in the top 1% group had a 2.70-fold elevated risk of breast cancer (95% CI: 2.15-3.40). The risk prediction model with the PRS had an area under the receiver operating characteristic curve of 0.606. The lifetime risk of breast cancer for Shanghai Chinese women in the lowest and highest 1% of the PRS was 1.35% and 10.06%, respectively. Conclusion: Approximately one-half of GWAS-identified breast cancer risk variants can be directly replicated in East Asian women. Collectively, common genetic variants are important predictors for breast cancer risk. Using common genetic variants for breast cancer could help identify women at high risk of breast cancer. © 2016 The Author(s).
Source Title: Breast Cancer Research
URI: https://scholarbank.nus.edu.sg/handle/10635/183586
ISSN: 1465-5411
DOI: 10.1186/s13058-016-0786-1
Rights: Attribution 4.0 International
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