Abstract
Links between the CHEK2 1100delC heterozygote and breast cancer risk have been extensively explored. However, both positive and negative associations with this variant have been reported in individual studies. For a detailed assessment of the CHEK2 1100delC heterozygote and breast cancer risk, relevant studies published as recently as May 2012 were identified using PUBMED and EMBASE and selected using a priori defined criteria. The strength of the relationship between the CHEK2 1100delC variant and breast cancer risks was assessed by odds ratios (ORs) under the fixed effects model. A total of 29,154 cases and 37,064 controls from 25 case-control studies were identified in this meta-analysis. The CHEK2 1100delC heterozygote was more frequently detected in cases than in controls (1.34% versus 0.44%). A significant association was found between CHEK2 1100delC heterozygote and breast cancer risk (OR=2.75, 95% CI: [2.25, 3.36]). The ORs and CIs were 2.33 (95% CI: [1.79, 3.05]), 3.72 (95% CI: [2.61, 5.31]) and 2.78 (95% CI: [2.28, 3.39]) respectively in unselected, family, early-onset breast cancer subgroups. The CHEK2 1100delC variant could be a potential factor for increased breast cancer risk in Caucasians. However, more consideration is needed in order to apply it to allele screening or other clinical work.
Highlights
Breast cancer is one of the most common cancers in the world
It should be noted that most studies did not specify whether the genotype distribution in the controls was deviated from the Hardy-Weinberg Equilibrium (HWE) or not
According to the “World Cancer Report”, the breast cancer is responsible for 22.9% of total cancers in women all over the world
Summary
Breast cancer is one of the most common cancers in the world. It negatively impacts women both physically and psychologically. The CHEK2 1100delC variant was found in women suffering from breast cancer with familial Li-Fraumeni syndrome (Bell et al, 1999). A large study (Meijers-Heijboer et al, 2002) later found the same variant affecting familial breast cancer without the BRCA1 and BRCA2 mutations. The Consortium found the frequency of CHEK2 1100delC to be 1.9% and 0.7% in cases and controls respectively, and confirmed that this gene variant could potentially increase the risk of breast cancer. Combined with 16 studies, it showed that CHEK2 1100delC heterozygotes rate was 3- to 5-fold higher in breast cancer group than control group
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