TERT Promoter Variants and Cancer Risk
Author Information
Author(s): Jonathan Beesley, Hilda A. Pickett, Sharon E. Johnatty, Alison M. Dunning, Xiaoqing Chen, Jun Li, Kyriaki Michailidou, Yi Lu, David N. Rider, Rachel T. Palmieri, Michael D. Stutz, Diether Lambrechts, Evelyn Despierre, Sandrina Lambrechts, Ignace Vergote, Jenny Chang-Claude, Stefan Nickels, Alina Vrieling, Dieter Flesch-Janys, Shan Wang-Gohrke, Ursula Eilber, Natalia Bogdanova, Natalia Antonenkova, Ingo B. Runnebaum, Thilo Dörk, Marc T. Goodman, Galina Lurie, Lynne R. Wilkens, Rayna K. Matsuno, Lambertus A. Kiemeney, Katja K. H. Aben, Tamara Marees, Leon F. A. G. Massuger, Brooke L. Fridley, Robert A. Vierkant, Elisa V. Bandera, Sara H. Olson, Irene Orlow, Lorna Rodriguez-Rodriguez, Linda S. Cook, D. Le Nhu, Angela Brooks-Wilson, Linda E. Kelemen, Ian Campbell, Simon A. Gayther, Susan J. Ramus, Aleksandra Gentry-Maharaj, Usha Menon, Shahana Ahmed, Caroline Baynes, Paul D. Pharoah
Primary Institution: Queensland Institute of Medical Research
Hypothesis
Genetic variation at the TERT-CLPTM1L locus is associated with susceptibility to ovarian and breast cancer.
Conclusion
The study found that certain genetic variants in the TERT promoter are linked to a decreased risk of ovarian and breast cancer.
Supporting Evidence
- The study genotyped 36 SNPs in 2,130 invasive EOC cases and 3,975 controls.
- The presence of minor alleles at specific SNPs was associated with decreased breast cancer risk.
- Functional analyses showed that certain SNPs reduced TERT promoter activity.
- The study included data from multiple international cancer research consortia.
Takeaway
Some tiny changes in our genes can help protect us from getting certain types of cancer, like ovarian and breast cancer.
Methodology
The study used fine-mapping and functional analyses of SNPs in the TERT promoter region across multiple case-control studies.
Potential Biases
Potential biases may arise from the selection of case-control studies and the genetic background of participants.
Limitations
The study primarily focused on Caucasian populations, which may limit the generalizability of the findings.
Participant Demographics
Participants were primarily Caucasian, including 2,130 invasive EOC cases and 3,975 controls.
Statistical Information
P-Value
0.005
Confidence Interval
0.77–0.96
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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