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Open Access 01-07-2017 | Original Article

An association study between CHEK2 gene mutations and susceptibility to breast cancer

Authors: Manizheh Jalilvand, Mana Oloomi, Reza Najafipour, Safar Ali Alizadeh, Najmaldin Saki, Fatemeh Samiee Rad, Mohammad Shekari

Published in: Comparative Clinical Pathology | Issue 4/2017

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.

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Title: An association study between CHEK2 gene mutations and susceptibility to breast cancer
Authors: Manizheh Jalilvand
Mana Oloomi
Reza Najafipour
Safar Ali Alizadeh
Najmaldin Saki
Fatemeh Samiee Rad
Mohammad Shekari
Publication date: 01-07-2017
Publisher: Springer London
Published in: Comparative Clinical Pathology / Issue 4/2017
Print ISSN: 1618-5641
Electronic ISSN: 1618-565X
DOI: https://doi.org/10.1007/s00580-017-2455-x

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An association study between CHEK2 gene mutations and susceptibility to breast cancer

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