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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
XRCC1 polymorphism and lung cancer risk
Joachim Schneider1, Vera Classen, Simone Helmig
1Institut und Poliklinik für Arbeits und Sozialmedizin Aulweg 129, D-35392 Giessen, Germany. joachim.schneider@arbmed.med.uni-giessen.de
Expert Review of Molecular Diagnostics
|November 13, 2008
Summary
Genetic variations in the x-ray cross complementing group 1 (XRCC1) DNA repair gene may influence lung cancer risk, particularly in smokers. While results are inconsistent, certain XRCC1 polymorphisms show associations with altered cancer susceptibility and survival.
Area of Science:
- Genetics
- Molecular Biology
- Cancer Research
Background:
- DNA repair mechanisms are crucial for maintaining genomic integrity against carcinogens.
- Reduced DNA repair capacity is linked to increased susceptibility to environmentally induced cancers.
- Polymorphisms in DNA repair genes, such as XRCC1, may modulate cancer risk.
Purpose of the Study:
- To review and discuss the relevance of XRCC1 gene polymorphisms in relation to lung cancer risk.
- To explore ethnic variations in the frequency of XRCC1 polymorphisms.
- To analyze the association between XRCC1 polymorphisms and lung cancer risk, considering factors like smoking and tumor type.
Main Methods:
- Literature review of studies investigating XRCC1 polymorphisms (codons 194, 280, 399, and -77) and lung cancer risk.
- Analysis of reported odds ratios (OR) and confidence intervals (CI) for various genotypes.
- Examination of gene-environment interactions, particularly with cigarette smoking.
- Assessment of associations with different histological tumor types and survival.
Main Results:
- Frequencies of XRCC1 variant alleles differ significantly across ethnic populations (e.g., codon 194 higher in Asians, codon 399 higher in Caucasians).
- Associations between XRCC1 codon 194 and 280 polymorphisms and lung cancer risk are generally inconsistent, with ORs near 1.0 or varying widely.
- The XRCC1 codon 399 polymorphism shows inconsistent risk estimates, with some studies reporting increased risk and others decreased or no significant association.
- The XRCC1 -77 variant genotypes (TC and CC) are associated with significantly increased lung cancer risk, especially in smokers.
- No association was found between XRCC1 polymorphisms and specific histological tumor types.
- The XRCC1 399 Gln/Gln variant genotype was linked to higher median survival time.
Conclusions:
- The role of XRCC1 polymorphisms (codons 194, 280, 399) in lung cancer risk is complex and often inconsistent across studies.
- The XRCC1 -77 polymorphism appears to be a more consistent risk factor, particularly when interacting with smoking.
- Ethnic background influences the prevalence of XRCC1 polymorphisms.
- Further research is needed to clarify the precise impact of XRCC1 polymorphisms on lung cancer development and prognosis.
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