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Lung cancer and mutations at the polymorphic NAT2 gene locus
C Martínez1, J A Agúndez, M Olivera
1Department of Pharmacology, Medical School, University of Extremadura, Badajoz, Spain.
Pharmacogenetics
|August 1, 1995
Summary
Specific NAT2 gene variants, particularly 590A and 341C + 481T + 803G, were more frequent in lung cancer patients. These alleles may represent a secondary risk factor for lung cancer development.
Area of Science:
- Genetics
- Oncology
- Pharmacogenomics
Background:
- The N-acetyltransferase 2 (NAT2) gene exhibits significant polymorphism, influencing drug metabolism and potentially cancer risk.
- Previous studies have explored the association between NAT2 acetylator status and various cancers, with mixed results.
Purpose of the Study:
- To investigate the prevalence of specific NAT2 gene mutations in patients with bronchogenic carcinoma compared to healthy controls.
- To identify potential secondary risk factors for lung cancer development related to NAT2 allelic variants.
Main Methods:
- Mutation-specific polymerase chain reaction (PCR) analysis was used to identify wild-type and fourteen mutant allelic variants of the NAT2 gene.
- DNA samples from 108 lung cancer patients and 243 healthy controls were analyzed.
Main Results:
- While overall poor acetylator genotypes were similar between patients and controls, the frequency of specific mutant NAT2 alleles (590A and 341C + 481T + 803G) was higher in lung cancer patients (p < 0.05 and p < 0.06).
- These increased frequencies were observed across different lung cancer subtypes, including adenocarcinoma, squamous cell, and small cell lung cancer.
- Homozygosity for the 341C + 481T + 803G variant suggested a potential increased risk for lung cancer (OR = 1.75).
Conclusions:
- Overall acetylator status is not a major determinant of lung cancer risk.
- Specific NAT2 alleles, namely 341C + 481T + 803G and 590A, may act as secondary risk factors contributing to lung cancer development.