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A pleiotropic ATM variant (rs1800057 C>G) is associated with risk of multiple cancers

Danwen Qian1,2,3, Hongliang Liu2,3, Lingling Zhao2,3

  • 1Department of Medical Oncology, Shanghai Pulmonary Hospital, Tongji University School of Medicine, Shanghai, China.

Carcinogenesis
|October 13, 2021
PubMed

Insights

Genetic variants in the ATM gene show a significant association with the risk of developing multiple cancers. This suggests a pleiotropic role for ATM in cancer development, potentially involving immune-mediated effects.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • The ataxia-telangiectasia mutated (ATM) kinase is crucial for DNA damage response and cell-cycle regulation.
  • ATM's role in DNA repair suggests its genetic variants may influence cancer development.
  • ATM's involvement in cellular processes implies a potential pleiotropic effect on multiple cancer types.

Purpose of the Study:

  • To investigate the pleiotropic effects of genetic variants in the ATM gene on the risk of multiple cancers.
  • To identify specific single-nucleotide polymorphisms (SNPs) in ATM associated with cancer risk.

Main Methods:

  • Utilized genotyping data from published genome-wide association studies (GWAS) across various cancer types.
  • Performed multivariate logistic regression and meta-analysis to assess associations between ATM SNPs and cancer risk.
  • Investigated intermediate phenotypes for significant missense variants to understand risk mechanisms.

Main Results:

  • Identified two ATM SNPs significantly associated with the risk of multiple cancers.
  • Specifically, the ATM tagging SNP rs1800057 (C>G) showed a strong association with overall cancer risk (P = 5.27 × 10-7).
  • The missense variant rs1800057 may confer cancer risk through immune-mediated pathways.

Conclusions:

  • Genetic variations in the ATM gene exhibit a pleiotropic effect on the risk of developing multiple cancers.
  • The findings highlight ATM genetic variants as potential common factors in carcinogenesis.
  • Further research into ATM's role, particularly rs1800057, may reveal novel insights into cancer prevention and treatment.

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