Abstract
CHEK2 gene is known as a tumor suppressor gene in breast cancer (BC), which plays a role in DNA repair. The germ line mutations in CEHK2 have been associated with different types of cancer. The present study was aimed at studying the association between CHEK2 mutations and BC. Peripheral blood was collected from patients into a test tube containing EDTA, and DNA was extracted from blood samples. Then, we analyzed mutations including 1100delc, IVS2+1>A, del5395bp, and I157T within CHEK2 gene in patients with BC and 100 normal healthy controls according to PCR-RFLP, allelic specific PCR, and multiplex-PCR. Although IVS2+1G>A mutation within CHEK2 gene was found in two BC patients, other defined mutants were not detected. For the first time, we identified CHEK2 IVS2+1G>A mutation, one out of four different CHEK2 alterations in two Iranian BC patients (2%). Also, our results showed that CHEK2 1100elC, del5395bp, and I157T mutations are not associated with genetic susceptibility for BC among Iranian population.
Highlights
Breast cancer (BC) is the most common cancer in women
Our results showed that CHEK2 1100elC, del5395bp, and I157T mutations are not associated with genetic susceptibility for BC among Iranian population
We examined the presence of four mutations in CHEK2 gene in 100 breast cancer patients with a personal and/or family history of breast cancer
Summary
Breast cancer (BC) is the most common cancer in women. According to WHO statistics, one out of every 8 to 10 women will be diagnosed with BC. In Iran, the risk of BC is one out of every 10 to 15 women with an onset age at least one decade sooner than that observed in developed countries (Noori & Tabarestani 2010). In some BC cases, the tumor suppressor genes responsible for genome maintenance and DNA repair show a high degree of genomic instability (Noori & Tabarestani 2010). Defective repair of DNA double-stranded breaks is associated with genetic susceptibility to BC (Noori & Tabarestani 2010; Kilpivaara et al 2004). The I157T product (I157T in fork head-associated (FHA) domain of the gene) is a stable protein dimerized with wild-type CHEK2, which is co-expressed in human cells It disturbs the substrate binding and interferes with wild-type CHEK2 in a dominant-negative manner (Bayram et al 2012; Bogdanova et al 2005). Due to lack of such study in Iranian women population, this preliminary case-control study was conducted to examine the frequencies of four CHEK2 mutations (c.1100delC, del5395bp, IVS2 + 1G > A, and I157T) in BC patients and healthy controls and to investigate the role of these mutations in susceptibility to BC among Iranian women
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