ArticleBreast cancer research : BCR2012
Breast cancer risk assessment with five independent genetic variants and two risk factors in Chinese women.
Article in Breast cancer research : BCR, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 11 of them syntheses that pooled it.
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Who cites it
43 citing papers in PubMed, 11 syntheses or guidelines pooled it, 81 citations in OpenAlex.
- A systematic review of prediction models for risk of breast cancer.BMC cancer · 2025Pooled it
- Update on the relationship between theThe Journal of international medical research · 2023Pooled it
- Clinical practice guidelines for risk assessment to identify women at high risk of breast cancer: Chinese Society of Breast Surgery (CSBrS) practice guidelines 2021.Chinese medical journal · 2021Guideline
- Correlation of FGFR2 rs2981582 polymorphisms with susceptibility to breast cancer: a case-control study in a Chinese population.The Journal of international medical research · 2019Pooled it
- The 6q25.1 rs2046210 polymorphism is associated with an elevated susceptibility to breast cancer: A meta-analysis of 261,703 subjects.Molecular genetics & genomic medicine · 2019Pooled it
- Association between FGFR2 (rs2981582, rs2420946 and rs2981578) polymorphism and breast cancer susceptibility: a meta-analysis.Oncotarget · 2017Pooled it
- Quantitative assessment of 2q35-rs13387042 polymorphism and hormone receptor status with breast cancer risk.PloS one · 2013Pooled it
- Pooled it
- Association between 5p12 genomic markers and breast cancer susceptibility: evidence from 19 case-control studies.PloS one · 2013Pooled it
- Quantitative assessment of common genetic variants on chromosome 5p12 and hormone receptor status with breast cancer risk.PloS one · 2013Pooled it
- Pooled it
- Genetic and lifestyle factors for breast cancer risk assessment in Southeast China.Cancer medicine · 2023Trial
- Associations of Genetic Variants at Nongenic Susceptibility Loci with Breast Cancer Risk and Heterogeneity by Tumor Subtype in Southern Han Chinese Women.BioMed research international · 2016Trial
- Prediction models and risk assessment for silicosis using a retrospective cohort study among workers exposed to silica in China.Scientific reports · 2015Trial
- Article
- 2q35-rs13387042 variant and the risk of breast cancer: a case-control study.Molecular biology reports · 2022Article
- Development and validation of polygenic risk scores for prediction of breast cancer and breast cancer subtypes in Chinese women.BMC cancer · 2022Article
- Occupational risk factors and breast cancer in Beijing, China: a hospital-based case-control study.BMJ open · 2022Article
- Development and external validation of a breast cancer absolute risk prediction model in Chinese population.Breast cancer research : BCR · 2021Article
- Association ofBreast cancer : basic and clinical research · 2020Article
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7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionRecently, several genome-wide association studies (GWAS) have identified novel single nucleotide polymorphisms (SNPs) associated with breast cancer risk. However, most of the studies were conducted among Caucasians and only one from Chinese.
methodsIn the current study, we first tested whether 15 SNPs identified by previous GWAS were also breast cancer marker SNPs in this Chinese population. Then, we grouped the marker SNPs, and modeled them with clinical risk factors, to see the usage of these factors in breast cancer risk assessment. Two methods (risk factors counting and odds ratio (OR) weighted risk scoring) were used to evaluate the cumulative effects of the five significant SNPs and two clinical risk factors (age at menarche and age at first live birth).
resultsFive SNPs located at 2q35, 3p24, 6q22, 6q25 and 10q26 were consistently associated with breast cancer risk in both testing set (878 cases and 900 controls) and validation set (914 cases and 967 controls) samples. Overall, all of the five SNPs contributed to breast cancer susceptibility in a dominant genetic model (2q35, rs13387042: adjusted OR = 1.26, P = 0.006; 3q24.1, rs2307032: adjusted OR = 1.24, P = 0.005; 6q22.33, rs2180341: adjusted OR = 1.22, P = 0.006; 6q25.1, rs2046210: adjusted OR = 1.51, P = 2.40 × 10-8; 10q26.13, rs2981582: adjusted OR = 1.31, P = 1.96 × 10-4). Risk score analyses (area under the curve (AUC): 0.649, 95% confidence interval (CI): 0.631 to 0.667; sensitivity = 62.60%, specificity = 57.05%) presented better discrimination than that by risk factors counting (AUC: 0.637, 95% CI: 0.619 to 0.655; sensitivity = 62.16%, specificity = 60.03%) (P < 0.0001). Absolute risk was then calculated by the modified Gail model and an AUC of 0.658 (95% CI = 0.640 to 0.676) (sensitivity = 61.98%, specificity = 60.26%) was obtained for the combination of five marker SNPs, age at menarche and age at first live birth.
conclusionsThis study shows that five GWAS identified variants were also consistently validated in this Chinese population and combining these genetic variants with other risk factors can improve the risk predictive ability of breast cancer. However, more breast cancer associated risk variants should be incorporated to optimize the risk assessment.
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