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. 2018 Apr 25;19(4):923-926.
doi: 10.22034/APJCP.2018.19.4.923.

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

Mohammad Hashemi  1 , Hiva Danesh, Fatemeh Bizhani, Hedieh Sattarifard, Seyed Mehdi Hashemi, Gholamreza Bahari
Affiliations

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

Mohammad Hashemi et al. Asian Pac J Cancer Prev. .

Abstract

It has been shown that a 4-bp insertion/deletion (ins/del) polymorphism of EGLN2 influences the risk of several cancers. 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 examine the 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 for genotyping of the variant. Our findings did not support any association between the 4-bp ins/del polymorphism and the risk of BC in the codominant, dominant, recessive and allele inheritance models tested. When links between the EGLN2 4-bp ins/del polymorphism and clinicopathological characteristics of the patients were evaluate the variant was only associated with HER2 status. More studies with larger sample sizes and diverse ethnicities are warranted to verify our finding.

Keywords: EGLN2; breast cancer; polymorphism; deletion.

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Figures

Figure 1
Figure 1
Photograph of the EGLN2 rs10680577 (4-bp ins/del) Polymorphism Using Mismatch Polymerase Chain Reaction-restriction Fragment Length Polymorphism (PCR-RFLP). M: DNA marker; lane1: ins/ins genotype; lanes 2: ins/del; lanes 3: del/del.
See this image and copyright information in PMC

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