Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility 'hot-spot'
| العنوان: | Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility 'hot-spot' |
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| المؤلفون: | Johnatty, S. E., Beesley, J., Chen, X., Macgregor, S., Duffy, D. L., Spurdle, A. B., Defazio, A., Gava, N., Penelope Webb, Rossing, M. A., Doherty, J. A., Goodman, M. T., Lurie, G., Thompson, P. J., Wilkens, L. R., Ness, R. B., Moysich, K. B., Chang-Claude, J., Wang-Gohrke, S., Cramer, D. W., Terry, K. L., Hankinson, S. E., Tworoger, S. S., Garcia-Closas, M., Yang, H., Lissowska, J., Chanock, S. J., Pharoah, P. D., Song, H., Whitemore, A. S., Pearce, C. L., Stram, D. O., Wu, A. H., Pike, M. C., Gayther, S. A., Ramus, S. J., Menon, U., Gentry-Maharaj, A., Anton-Culver, H., Ziogas, A., Hogdall, E., Kjaer, S. K., Hogdall, C., Berchuck, A., Schildkraut, J. M., Iversen, E. S., Moorman, P. G., Phelan, C. M., Sellers, T. A., Cunningham, J. M., Vierkant, R. A., Rider, D. N., Goode, E. L., Haviv, I., Chenevix-Trench, G., Ovarian Cancer Association Consortium, Australian Ovarian Cancer Study Group, Australian Cancer Study (Ovarian Cancer) |
| المصدر: | Scopus-Elsevier Johnatty, SE; Beesley, J; Chen, X; Macgregor, S; Duffy, DL; Spurdle, AB; et al.(2010). Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot".. PLoS genetics, 6(7), e1001016. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/1bh4h3xc PLoS Genetics, Vol 6, Iss 7, p e1001016 (2010) PLoS Genetics |
| مصطلحات موضوعية: | Cancer Research, Genotype, lcsh:QH426-470, Colorectal cancer, Locus (genetics), Genome-wide association study, Single-nucleotide polymorphism, Genetics and Genomics/Complex Traits, Biology, Polymorphism, Single Nucleotide, White People, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Telomerase reverse transcriptase, Genetics and Genomics/Cancer Genetics, Telomerase, Molecular Biology, Genetics and Genomics/Genetics of Disease, Genetics (clinical), Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Ovarian Neoplasms, 0303 health sciences, Epithelial Cells, medicine.disease, 3. Good health, lcsh:Genetics, Serous fluid, Case-Control Studies, 030220 oncology & carcinogenesis, Cancer research, Chromosomes, Human, Pair 5, Female, Public Health and Epidemiology/Epidemiology, Stromal Cells, Ovarian cancer, Research Article |
| الوصف: | We hypothesized that variants in genes expressed as a consequence of interactions between ovarian cancer cells and the host micro-environment could contribute to cancer susceptibility. We therefore used a two-stage approach to evaluate common single nucleotide polymorphisms (SNPs) in 173 genes involved in stromal epithelial interactions in the Ovarian Cancer Association Consortium (OCAC). In the discovery stage, cases with epithelial ovarian cancer (n = 675) and controls (n = 1,162) were genotyped at 1,536 SNPs using an Illumina GoldenGate assay. Based on Positive Predictive Value estimates, three SNPs—PODXL rs1013368, ITGA6 rs13027811, and MMP3 rs522616—were selected for replication using TaqMan genotyping in up to 3,059 serous invasive cases and 8,905 controls from 16 OCAC case-control studies. An additional 18 SNPs with P per-allele Author Summary In this article, we report the findings from a large-scale analysis of common variation in genes that are expressed as a consequence of interactions between ovarian cancer cells and their host micro-environment that could influence serous ovarian cancer risk. We evaluated 1,302 common variants within or near 173 genes in two large case-control studies from the Ovarian Cancer Association Consortium (OCAC) and selected three variants for further evaluation in sixteen OCAC studies and an additional 18 for evaluation in five OCAC studies. We observed a significantly increased risk of serous ovarian cancer associated with a variant in the telomerase reverse transcriptase (TERT) gene. Although TERT variants have not been previously shown to contribute to ovarian cancer risk, several studies have recently reported associations between TERT variants and other forms of cancer, including gliomas, lung cancer, adenocarcinoma, basal cell carcinoma, prostate cancer, and multiple other cancers. TERT encodes a protein that is essential for the replication and maintenance of chromosomal integrity during cell division. In cancer cells, TERT has been linked to genomic instability and tumour cell proliferation. Further studies are necessary to confirm our findings and to investigate the mechanisms for the observed association. |
| وصف الملف: | application/pdf |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::998b9d14e9f6bd91eea535832bce1984 http://www.scopus.com/inward/record.url?eid=2-s2.0-84855422579&partnerID=MN8TOARS |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....998b9d14e9f6bd91eea535832bce1984 |
| قاعدة البيانات: | OpenAIRE |
| الوصف غير متاح. |