ArticleCell cycle (Georgetown, Tex.)2011
Rare BRCA1 haplotypes including 3'UTR SNPs associated with breast cancer risk.
Article in Cell cycle (Georgetown, Tex.), 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Evidences from a Systematic Review and Meta-Analysis Unveil the Role of MiRNA Polymorphisms in the Predisposition to Female Neoplasms.International journal of molecular sciences · 2019Pooled it
- Cis-regulatory and long noncoding RNA alterations in breast cancer - current insights, biomarker utility, and the critical need for functional validation.Molecular oncology · 2026Review
- Article
- MicroRNAs in Genetic Etiology of Human Diseases.Methods in molecular biology (Clifton, N.J.) · 2022Article
- SNPs in miRNAs and Target Sequences: Role in Cancer and Diabetes.Frontiers in genetics · 2021Review
- Article
- Genetic Variants in the 3'UTR ofDiagnostics (Basel, Switzerland) · 2020Article
- Effect of variation in miRNA-binding site (rs8176318) of the BRCA1 gene in breast cancer patientsTurkish journal of medical sciences · 2019Article
- Breast Cancer and miR-SNPs: The Importance of miR Germ-Line Genetics.Non-coding RNA · 2019Review
- A Germline Mutation in the BRCA1 3’UTR Variant Predicts Susceptibility to Breast Cancer in a Saudi Arabian PopulationAsian Pacific journal of cancer prevention : APJCP · 2018Article
- rs15869 at miRNA binding site in BRCA2 is associated with breast cancer susceptibility.Medical oncology (Northwood, London, England) · 2016Article
- Estrogen Drives Cellular Transformation and Mutagenesis in Cells Expressing the Breast Cancer-Associated R438W DNA Polymerase Lambda Protein.Molecular cancer research : MCR · 2016Article
- Mutation screening of MIR146A/B and BRCA1/2 3'-UTRs in the GENESIS study.European journal of human genetics : EJHG · 2016Article
- Identification and frequency of the rs12516 and rs8176318Oncology letters · 2016Article
- In silico analysis of polymorphisms in microRNAs that target genes affecting aerobic glycolysis.Annals of translational medicine · 2016Article
- Deregulation of the EGFR/PI3K/PTEN/Akt/mTORC1 pathway in breast cancer: possibilities for therapeutic intervention.Oncotarget · 2014Review
- Article
- Inhibition of GSK-3β activity can result in drug and hormonal resistance and alter sensitivity to targeted therapy in MCF-7 breast cancer cells.Cell cycle (Georgetown, Tex.) · 2014Article
- Extensive sequence variation in the 3' untranslated region of the KRAS gene in lung and ovarian cancer cases.Cell cycle (Georgetown, Tex.) · 2014Article
- From microRNA functions to microRNA therapeutics: novel targets and novel drugs in breast cancer research and treatment (Review).International journal of oncology · 2013Review
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12 authors at 1 institution in 1 country.
Funding
Abstract
Genetic markers identifying women at an increased risk of developing breast cancer exist, yet the majority of inherited risk remains elusive. While numerous BRCA1 coding sequence mutations are associated with breast cancer risk, BRCA1 mutations account for less then 5% of breast cancer risk. Since 3' untranslated region (3'UTR) polymorphisms disrupting microRNA (miRNA) binding can be functional and can act as genetic markers of cancer risk, we tested the hypothesis that such polymorphisms in the 3'UTR of BRCA1 and haplotypes containing these functional polymorphisms may be associated with breast cancer risk. We sequenced the BRCA1 3'UTR from breast cancer patients to identify miRNA disrupting polymorphisms. We further evaluated haplotypes of this region including the identified 3'UTR variants in a large population of controls and breast cancer patients (n = 221) with known breast cancer subtypes and ethnicities. We identified three 3'UTR variants in BRCA1 that are polymorphic in breast cancer populations, and haplotype analysis including these variants revealed that breast cancer patients harbor five rare haplotypes not generally found among controls (9.50% for breast cancer chromosomes, 0.11% for control chromosomes, p = 0.0001). Three of these rare haplotypes contain the rs8176318 BRCA1 3'UTR functional variant. These haplotypes are not biomarkers for BRCA1 coding mutations, as they are found rarely in BRCA1 mutant breast cancer patients (1/129 patients = 0.78%). These rare BRCA1 haplotypes and 3'UTR SNPs may represent new genetic markers of breast cancer risk.
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