The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer
Open accessAbstract
An inherited variant on chromosome 8q24, rs6983267, is significantly associated with cancer pathogenesis. We present evidence that the region harboring this variant is a transcriptional enhancer, that the alleles of rs6983267 differentially bind transcription factor 7-like 2 (TCF7L2) and that the risk region physically interacts with the MYC proto-oncogene. These data provide strong support for a biological mechanism underlying this non-protein-coding risk variant.
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Mapping interactions between enhancers and promoters in disease-relevant cells improves the accuracy of assigning target genes.
“Mapping interactions between enhancers and promoters in disease-relevant cells improves the accuracy of the assignment (Grubert et al., 2015; McGeachie et al., 2016; Pomerantz et al., 2009), but this is not always feasible.”
From Insulated Neighborhoods: Structural and Functional Units of Mammalian Gene Control (2016) · cites this paper as Pomerantz et al., 2009
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- Authors
- Pomerantz, M. M., Ahmadiyeh, N., Jia, L., Herman, P., Verzi, M. P., Doddapaneni, H., Beckwith, C. A., Chan, J. A., Hills, A., Davis, M., Yao, K., Kehoe, S. M., Lenz, H.-J., Haiman, C. A., Yan, C., Henderson, B. E., Frenkel, B., Barretina, J., Bass, A., Tabernero, J., Baselga, J., Regan, M. M., Manak, J. R., Shivdasani, R., Coetzee, G. A., & Freedman, M. L.
- Affiliations
- Dana-Farber Cancer Institute (US)
- Brigham and Women's Hospital (US)
- University of Iowa (US)
- University of Calgary (CA)
- University of Southern California (US)
- Vall d'Hebron Hospital Universitari (ES)
- Broad Institute (US)
- Corresponding author
- Freedman, Matthew L
- ORCID
- Venue
- Nature Genetics
- Published
- 2009-06-28
- Volume
- 41
- Issue
- 8
- Pages
- 882-884
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC2763485
- OpenAlex
- W2021654829
- Cited by
- 663
- References
- 29
- Citations by year
- 2026: 12 · 2025: 10 · 2024: 4 · 2023: 18 · 2022: 19 · 2021: 28 · 2020: 21 · 2019: 34 · 2018: 44 · 2017: 30 · 2016: 42 · 2015: 53 · 2014: 57 · 2013: 74 · 2012: 62
- FWCI
- 41.92
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (acceptedVersion)
- Funders
- Howard Hughes Medical Institute
- National Cancer Institute (K08CA134931, P50CA090381, R01CA109147, R01CA136924, R01CA129435, 5P50CA90381)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Keywords
- rs6983267, 8q24, colorectal cancer, c-Myc, long-range chromatin interactions, enhancers, TCF7L2, Wnt signaling, cancer susceptibility
- MeSH terms
- Proto-Oncogene Mas, Alleles, Chromosomes, Human, Pair 8, Enhancer Elements, Genetic, Humans, Protein Binding, Colorectal Neoplasms, Proto-Oncogene Proteins c-myc, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Cell Line, Tumor, TCF Transcription Factors, Transcription Factor 7-Like 2 Protein
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