Document Type: Systematic Review and Meta-analysis
Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Background: Previous studies have assessed associations between single nucleotide polymorphisms (SNPs) of
the Partner and localizer of BRCA2 (PALB2) gene and risk of breast cancer. However, the results of these studies
are not consistent. Materials and Methods: We designed a meta-analysis to obtain a more reliable appraisal of
the association between SNPs in the PALB2 gene and the susceptibility to breast cancer. We searched PubMed, Google
scholar and Embase databases and selected six studies with sufficient data to estimate the pooled odds ratios (ORs)
and 95% confidence intervals (CIs). Results: Statistical analyses showed that the rs120963 was associated with breast
cancer risk in allelic (OR (95% CI) = 1.33 (1.18-1.49)), homozygous (OR (95% CI) = 1.74 (1.31-2.32)), dominant
(OR (95% CI) = 1.42 (1.22, 1.65)) and recessive (OR (95% CI) = 1.54 (1.17, 2.03)) models. The rs249954 and
rs16940342 were associated with breast cancer risk in allelic (OR (95% CI) = 1.13 (1.04, 1.23) and 1.12 (1.01, 1.24)
respectively) and dominant (OR (95% CI) = 1.23 (1.09, 1.39) and 1.18 (1.04, 1.33) respectively) models. The rs249935
and rs447529 SNPs were associated with breast cancer in homozygous (OR (95% CI) = 0.67 (0.46, 0.97) and 0.51
(0.30, 0.89) respectively) and recessive (OR (95% CI) = 0.65 (0.45, 0.95) and 0.51 (0.30, 0.88) respectively) models.
Conclusions: The current meta-analysis shows the associations between five SNPs of PALB2 and breast cancer risk
and confirms the results of previous studies regarding the role of this gene in the pathogenesis of breast cancer.