ArticleCancer genetics
Characterization of the colorectal cancer-associated enhancer MYC-335 at 8q24: the role of rs67491583.
Article in Cancer genetics. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- A comprehensive meta-analysis of genetic associations between five key SNPs and colorectal cancer risk.Oncotarget · 2016Pooled it
- The Role of Non-Coding Regions in Breast Cancer: From Gene Regulation to Therapeutic Implications.Pharmaceuticals (Basel, Switzerland) · 2025Review
- Skeletal muscle enhancer interactions identify genes controlling whole-body metabolism.Nature communications · 2020Article
- Beyond the coding genome: non-coding mutations and cancer.Frontiers in bioscience (Landmark edition) · 2020Review
- Super-enhancers in transcriptional regulation and genome organization.Nucleic acids research · 2019Article
- Selective Activation of AlternativeGenes · 2018Article
- DiseaseEnhancer: a resource of human disease-associated enhancer catalog.Nucleic acids research · 2018Article
- Association between 8q24 rs6983267 polymorphism and cancer susceptibility: a meta-analysis involving 170,737 subjects.Oncotarget · 2017Article
- CCAT1 and CCAT2 long noncoding RNAs, located within the 8q.24.21 'gene desert', serve as important prognostic biomarkers in colorectal cancer.Annals of oncology : official journal of the European Society for Medical Oncology · 2017Article
- Identification and characterization of functional risk variants for colorectal cancer mapping to chromosome 11q23.1.Human molecular genetics · 2014Article
- Enhancer variants: evaluating functions in common disease.Genome medicine · 2014Article
- Article
- Ultra-rare mutation in long-range enhancer predisposes to thyroid carcinoma with high penetrance.PloS one · 2013Article
- delGA (rs67491583) variant and colorectal cancer risk in an indigenous African population.African journal of medicine and medical sciences · 2012Article
- Cohesin is required for activation of MYC by estradiol.PloS one · 2012Article
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Authors and funding
26 authors at 11 institutions in 3 countries.
Funding
Abstract
Recent genome-wide association studies have identified multiple regions at 8q24 that confer susceptibility to many cancers. In our previous work, we showed that the colorectal cancer (CRC) risk variant rs6983267 at 8q24 resides within a TCF4 binding site at the MYC-335 enhancer, with the risk allele G having a stronger binding capacity and Wnt responsiveness. Here, we searched for other potential functional variants within MYC-335. Genetic variation within MYC-335 was determined in samples from individuals of European, African, and Asian descent, with emphasis on variants in putative transcription factor binding sites. A 2-bp GA deletion rs67491583 was found to affect a growth factor independent (GFI) binding site and was present only in individuals with African ancestry. Chromatin immunoprecipitation performed in heterozygous cells showed that the GA deletion had an ability to reduce binding of the transcriptional repressors GFI1 and GFI1b. Screening of 1,027 African American colorectal cancer cases and 1,773 healthy controls did not reveal evidence for association (odds ratio: 1.17, 95% confidence interval: 0.97-1.41, P = 0.095). In this study, rs67491583 was identified as another functional variant in the CRC-associated enhancer MYC-335, but further studies are needed to establish the role of rs67491583 in the colorectal cancer predisposition of African Americans.
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