Association Between CHEK2*1100delC and Breast Cancer: A Systematic Review and Meta-Analysis

Mol Diagn Ther. 2018 Aug;22(4):397-407. doi: 10.1007/s40291-018-0344-x.

Abstract

Introduction: The association between the checkpoint kinase 2*1100delC (CHEK2*1100delC) and breast cancer has been extensively explored.

Objective: In light of the recent publication of studies on these specific findings, particularly regarding male patients with breast cancer, we performed an updated meta-analysis to investigate a more reliable estimate.

Methods: This meta-analysis included 26 published studies selected in a search of electronic databases up to January 2018, including 118,735 breast cancer cases and 195,807 controls. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the association between 1100delC and breast cancer.

Results: Meta-analysis results suggested that 1100delC contributed to an increased breast cancer risk in overall populations (OR 2.89; 95% CI 2.63-3.16). Subgroup analysis found ORs of 3.13 (95% CI 1.94-5.07) for male breast cancer, 2.88 (95% CI 2.63-3.16) for female breast cancer, 2.87 (95% CI 1.85-4.47) for early-onset breast cancer, 2.92 (95% CI 2.65-3.22) for invasive breast cancer, and 3.21 (95% CI 2.41-4.29) for familial breast cancer. The sensitivity analysis suggested that results of this meta-analysis were generally robust.

Conclusion: CHEK2*1100delC is associated with an increased risk of both female and male breast cancer.

Publication types

  • Meta-Analysis
  • Systematic Review

MeSH terms

  • Alleles
  • Biomarkers, Tumor
  • Breast Neoplasms / etiology*
  • Breast Neoplasms / metabolism
  • Breast Neoplasms / pathology
  • Case-Control Studies
  • Checkpoint Kinase 2 / genetics*
  • Female
  • Genetic Association Studies*
  • Genetic Predisposition to Disease*
  • Genotype
  • Heterozygote
  • Humans
  • Male
  • Odds Ratio
  • Publication Bias
  • Risk Assessment
  • Risk Factors
  • Sequence Deletion*

Substances

  • Biomarkers, Tumor
  • Checkpoint Kinase 2
  • CHEK2 protein, human