ArticleCarcinogenesis2017
Evaluating genetic variants associated with breast cancer risk in high and moderate-penetrance genes in Asians.
Article in Carcinogenesis, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- The Association of PTEN Gene Mutations with the Breast Cancer Risk: A Systematic Review and Meta-analysis.Biochemical genetics · 2024Pooled it
- Frequency of somatic and germline variants of predisposition genes in young Chinese women with breast cancer.Breast cancer research and treatment · 2025Article
- Understanding genetic variations associated with familial breast cancer.World journal of surgical oncology · 2024Review
- Docking and Molecular Dynamics Simulation Revealed the Potential Inhibitory Activity of Amygdalin in Triple-Negative Breast Cancer Therapeutics Targeting the BRCT Domain of BARD1 Receptor.Molecular biotechnology · 2024Article
- Challenges and Innovations in Breast Cancer Screening in India: A Review of Epidemiological Trends and Diagnostic Strategies.International journal of breast cancer · 2024Review
- Comprehensive germline profiling of patients with breast cancer: initial experience from a Familial Cancer Clinic.Ecancermedicalscience · 2024Article
- Profile of Pathogenic Mutations and Evaluation of Germline Genetic Testing Criteria in Consecutive Breast Cancer Patients Treated at a North Indian Tertiary Care Center.Annals of surgical oncology · 2022Article
- Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network.JNCI cancer spectrum · 2021Article
- Breast cancer: Muscarinic receptors as new targets for tumor therapy.World journal of clinical oncology · 2021Review
- Article
- PEG3 mutation is associated with elevated tumor mutation burden and poor prognosis in breast cancer.Bioscience reports · 2020Article
- Breast Cancer Risk Prediction in Korean Women: Review and Perspectives on Personalized Breast Cancer Screening.Journal of breast cancer · 2020Review
- Article
- Genomic Profiling Comparison of GermlineFrontiers in oncology · 2020Article
- Evolutionary coupling analysis identifies the impact of disease-associated variants at less-conserved sites.Nucleic acids research · 2019Article
- The influence of anPharmacogenomics and personalized medicine · 2019Article
- A prognostic 4-gene expression signature for patients with HER2-negative breast cancer receiving taxane and anthracycline-based chemotherapy.Oncotarget · 2017Article
Corrections and comments
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Authors and funding
30 authors at 15 institutions in 10 countries.
Funding
Abstract
Over the past 20 years, high-penetrance pathogenic mutations in genes BRCA1, BRCA2, TP53, PTEN, STK11 and CDH1 and moderate-penetrance mutations in genes CHEK2, ATM, BRIP1, PALB2, RAD51C, RAD50 and NBN have been identified for breast cancer. In this study, we investigated whether there are additional variants in these 13 genes associated with breast cancer among women of Asian ancestry. We analyzed up to 654 single nucleotide polymorphisms (SNPs) from 6269 cases and 6624 controls of Asian descent included in the Breast Cancer Association Consortium (BCAC), and up to 236 SNPs from 5794 cases and 5529 controls included in the Shanghai Breast Cancer Genetics Study (SBCGS). We found three missense variants with minor allele frequency (MAF) <0.05: rs80358978 (Gly2508Ser), rs80359065 (Lys2729Asn) and rs11571653 (Met784Val) in the BRCA2 gene, showing statistically significant associations with breast cancer risk, with P-values of 1.2 × 10-4, 1.0 × 10-3 and 5.0 × 10-3, respectively. In addition, we found four low-frequency variants (rs8176085, rs799923, rs8176173 and rs8176258) in the BRCA1 gene, one common variant in the CHEK2 gene (rs9620817), and one common variant in the PALB2 gene (rs13330119) associated with breast cancer risk at P < 0.01. Our study identified several new risk variants in BRCA1, BRCA2, CHEK2, and PALB2 genes in relation to breast cancer risk in Asian women. These results provide further insights that, in addition to the high/moderate penetrance mutations, other low-penetrance variants in these genes may also contribute to breast cancer risk.
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