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Updated: May 26, 2026

Multiomics Analysis of TMEM200A as a Pan-Cancer Biomarker
Published on: September 15, 2023
Association between ATM polymorphisms and cancer risk: a meta-analysis
Li Shen1, Zhi-Hua Yin, Yan Wan
1Department of Epidemiology, School of Public Health, China Medical University, Shenyang, 110001, China.
This meta-analysis found that Ataxia-telangiectasia mutated (ATM) gene polymorphisms, specifically rs664143, are associated with increased cancer risk. The rs664143 variant showed a significant link to lung cancer susceptibility, particularly in Asian populations.
Area of Science:
- Genetics
- Oncology
- Epidemiology
Background:
- Epidemiological studies have explored the link between Ataxia-telangiectasia mutated (ATM) gene polymorphisms and various cancer risks, but findings remain inconsistent.
- Contradictory results necessitate further investigation into specific ATM single nucleotide polymorphisms (SNPs) and their association with cancer susceptibility.
Purpose of the Study:
- To conduct a meta-analysis evaluating the association between two ATM gene SNPs (rs664143 and rs664677) and overall cancer risk.
- To investigate the relationship between these specific ATM SNPs and the risk of lung, breast, glioma, and pancreatic cancers.
Main Methods:
- A meta-analysis of published case-control studies was performed.
- Data from 12 publications were synthesized, focusing on 8 studies for rs664143 and 7 for rs664677.
- Subgroup analyses were conducted based on cancer type and geographic region.
Main Results:
- The ATM rs664143 polymorphism was associated with an overall increased cancer risk, particularly in heterozygote carriers (OR=1.18, 95% CI 1.02-1.36).
- Significant associations were found between ATM rs664143 and increased lung cancer risk (GA vs. GG: OR=1.48, AA vs. GG: OR=1.51).
- ATM rs664677 was linked to decreased lung cancer risk (TC vs. TT: OR=0.76, CC vs. TT: OR=0.80) and increased breast cancer risk (TC vs. TT: OR=1.42, CC vs. TT: OR=1.51).
- In Asian populations, ATM rs664143 (GA or AA genotypes) showed a clear increase in cancer risk (GA vs. GG: OR=1.40, AA vs. GG: OR=1.37).
Conclusions:
- The ATM rs664143 polymorphism is associated with cancer susceptibility.
- ATM rs664143 is significantly linked to an elevated risk of developing lung cancer.
- ATM rs664677 demonstrates a dual role, associated with reduced lung cancer risk and increased breast cancer risk.
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