Detection of a 4-bp Insertion/deletion Polymorphism within the Promoter of EGLN2 Using Mismatch PCR-RFLP and Its Association with Susceptibility to Breast Cancer

It has been shown that a 4-bp insertion/deletion (ins/del) polymorphism of EGLN2 influences the risk of severalcancers. However, to date, no study has inspected the impact of the 4-bp ins/del polymorphism on breast cancer (BC)risk. A case-control study, including 134 breast cancer patients and 154 healthy women, was here conducted to examinethe possible association between EGLN2 4-bp ins/del polymorphism and BC risk in a southeast Iranian population.A mismatched polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was designed forgenotyping of the variant. Our findings did not support any association between the 4-bp ins/del polymorphism andthe risk of BC in the codominant, dominant, recessive and allele inheritance models tested. When links betweenthe EGLN2 4-bp ins/del polymorphism and clinicopathological characteristics of the patients were evaluate the variantwas only associated with HER2 status. More studies with larger sample sizes and diverse ethnicities are warranted toverify our finding.