J Korean Med Sci.  2011 Nov;26(11):1527-1530. 10.3346/jkms.2011.26.11.1527.

Polymorphisms in Apoptosis-Related Genes and TP53 Mutations in Non-Small Cell Lung Cancer

• Bae EY
• Lee EJ
• Kang HG
• Lee SY
• Jin G
• Lee WK
• Choi JE
• Jeon HS
• Lim JO
• Lee EB
• Park JY

• KMID: 1123458
• DOI: http://doi.org/10.3346/jkms.2011.26.11.1527

Abstract

Apoptosis plays an essential role in the elimination of mutated or transformed cells from the body. Therefore, polymorphisms of apoptosis-related genes may lead to an alteration in apoptotic capacity, thereby affecting the occurrence of TP53 mutations in lung cancer. We investigated the relationship between potentially functional polymorphisms of apoptosis-related genes and TP53 mutations in non-small cell lung cancer (NSCLC). Twenty-seven single nucleotide polymorphisms in 20 apoptosis-related genes were genotyped by a sequenome mass spectrometry-based genotyping assay in 173 NSCLCs and the associations with TP53 mutations in the entire coding exons (exons 2-11), including splicing sites of the gene, were analyzed. None of the 27 polymorphisms was significantly associated with the occurrence of TP53 mutations. This suggests that apoptosis-related genes may not play an important role in the occurrence of TP53 mutations in lung cancer.

Keyword

Lung Neoplasms; Apoptosis; TP53 Mutation; Polymorphism, Genetic

MeSH Terms

Apoptosis/*genetics
Carcinoma, Non-Small-Cell Lung/*genetics
DNA Mutational Analysis
Female
*Genes, p53
Genetic Predisposition to Disease
Genotype
Humans
Lung Neoplasms/genetics
Male
Mutation
*Polymorphism, Single Nucleotide

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