Jalilvand Manizheh, Oloomi Mana, Najafipour Reza, Alizadeh Safar Ali, Saki Najmaldin, Rad Fatemeh Samiee, Shekari Mohammad
Department of Medical Genetics, Faculty of Medicine, Hormozgan University of Medical Sciences, Bandar-Abbas, Iran.
Department of Molecular Biology, Pasture Institute , Tehran, Iran.
Comp Clin Path. 2017;26(4):837-845. doi: 10.1007/s00580-017-2455-x. Epub 2017 Apr 8.
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.
CHEK2基因被认为是乳腺癌（BC）中的一种肿瘤抑制基因，在DNA修复中发挥作用。CHEK2的种系突变与不同类型的癌症有关。本研究旨在探讨CHEK2突变与乳腺癌之间的关联。将患者的外周血采集到含有乙二胺四乙酸（EDTA）的试管中，并从血样中提取DNA。然后，我们根据聚合酶链反应-限制性片段长度多态性（PCR-RFLP）、等位基因特异性PCR和多重PCR分析了100例乳腺癌患者和100例正常健康对照者CHEK2基因内的1100delc、IVS2+1>A、del5395bp和I157T等突变。虽然在两名乳腺癌患者中发现了CHEK2基因内的IVS2+1G>A突变，但未检测到其他确定的突变体。我们首次在两名伊朗乳腺癌患者（占2%）中发现了CHEK2 IVS2+1G>A突变，这是四种不同CHEK2改变中的一种。此外，我们的结果表明，在伊朗人群中，CHEK2 1100elC、del5395bp和I157T突变与乳腺癌的遗传易感性无关。
