A TERT-CLPTM1 locus polymorphism (rs401681) is associated with EGFR mutation in non-small cell lung cancer

Pathol Res Pract. 2017 Nov;213(11):1340-1343. doi: 10.1016/j.prp.2017.09.028. Epub 2017 Oct 7.

Abstract

Telomere length is associated with lung carcinogenesis, and recent studies have focused on telomere-maintaining genes and their polymorphisms. Cancer susceptibility of the rs401681 polymorphism, located in the TERT-CLPTM1L locus, has been studied in many cancers. We examined the clinicopathological and prognostic value of rs401681 variants in lung cancer. The relationship between rs401681 variants and telomere length was analyzed in 134 non-small cell lung cancers (NSCLCs). The rs401681 polymorphism had the following genotype frequencies: C/C in 52.2% of the samples, C/T in 30.6%, and T/T in 17.2%. The T allele showed a strong correlation with EGFR mutation (p=0.037). Telomeres in the tumor samples were 3.26-fold longer, on average, than telomeres in matched normal samples (SD=0.48), and there were no differences in telomere length according to rs401681 polymorphism. Smoking was associated with telomere shortening (p=0.01). Survival analysis showed no prognostic value for rs401681 polymorphisms or telomere length in NSCLC. These results suggested that the rs401681 polymorphism contributes to lung carcinogenesis only in patients harboring an EGFR mutation. However, the polymorphism was not associated with survival; therefore, further comprehensive analysis should be performed.

Keywords: CLPTM1L polymorphism; Lung cancer; NSCLC; TERT-CLPTM1L locus; Telomere length.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Carcinoma, Non-Small-Cell Lung / genetics*
  • ErbB Receptors / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Lung Neoplasms / genetics*
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Mutation / genetics*
  • Polymorphism, Single Nucleotide / genetics
  • Telomerase / genetics*

Substances

  • CLPTM1 protein, human
  • Membrane Proteins
  • EGFR protein, human
  • ErbB Receptors
  • TERT protein, human
  • Telomerase