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Development of Compendium for Esophageal Squamous Cell Carcinoma
Published on: April 12, 2024
Genetic polymorphisms and esophageal cancer risk
Toru Hiyama1, Masaharu Yoshihara, Shinji Tanaka
1Health Service Center, Hiroshima University, Higashihiroshima, Japan. tohiyama@hiroshima-u.ac.jp
International Journal of Cancer
|August 4, 2007
Summary
Genetic polymorphisms in carcinogen metabolism genes like ALDH2 and CYP1A1 are linked to increased esophageal cancer risk. Further research is needed to understand gene-environment interactions in esophageal carcinogenesis.
Area of Science:
- Genetics
- Cancer Research
- Epidemiology
Background:
- Esophageal cancer, including squamous cell carcinoma (SCC) and adenocarcinoma, poses a significant health burden globally.
- Genetic factors are increasingly recognized for their role in cancer susceptibility.
- Understanding the contribution of genetic polymorphisms to esophageal cancer risk is crucial for prevention and early detection.
Purpose of the Study:
- To comprehensively review and evaluate published data on the contribution of genetic polymorphisms to human esophageal cancer risk.
- To identify specific genes and their variants associated with increased risk of esophageal cancer (SCC and adenocarcinoma).
- To synthesize findings from existing studies and meta-analyses.
Main Methods:
- Systematic literature search of MEDLINE for studies published before February 2007.
- Inclusion of human studies comparing esophageal cancer patients with control groups.
- Analysis of 100 studies and 3 meta-analyses, with a focus on genes involved in carcinogen metabolism.
Main Results:
- Significant associations were found between ALDH2*1*2, CYP1A1 Val allele, and increased esophageal cancer risk.
- Increased risk of esophageal SCC was consistently linked to ADH2*1*2 and p53 codon 72 Pro/Pro genotypes.
- GSTM1 and ALDH2 were the most frequently studied genes, with meta-analyses confirming several significant gene-cancer risk relationships.
Conclusions:
- Specific genetic polymorphisms, notably in ALDH2, CYP1A1, ADH2, and p53, are associated with altered esophageal cancer risk.
- The findings highlight the importance of genetic susceptibility in esophageal carcinogenesis.
- Future research should focus on cohort studies examining multiple genetic and environmental factors and their interactions to elucidate esophageal cancer development.
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