BRCA1 Gene Mutations in Breast Cancer Patients from Kerman Province, Iran

Nasrollah  Salehgohari; Marzye Mohammadi-Anaie; Behjat Kalantari-Khandani

International Journal of Cancer Management

The Official Journal of Cancer Research Center (CRC), Shahid Beheshti University of Medical Sciences

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BRCA1 Gene Mutations in Breast Cancer Patients from Kerman Province, Iran

Author(s):

Nasrollah Salehgohari^1,*,

Marzye Mohammadi-Anaie²,

Behjat Kalantari-Khandani³

1Dept. of Genetics, Kerman University of Medical Sciences, Kerman, Iran

2Genetic Laboratory, Afzalipour Hospital, Kerman, Iran

3Dept. of Oncology, Kerman University of Medical Sciences, Kerman, Iran

International Journal of Cancer Management:Vol. 5, issue 4; e80839

Published online:Dec 31, 2012

Article type:Research Article

Received:Jun 08, 2012

Accepted:Jul 23, 2012

How to Cite:Nasrollah SalehgohariMarzye Mohammadi-AnaieBehjat Kalantari-KhandaniBRCA1 Gene Mutations in Breast Cancer Patients from Kerman Province, Iran.Int J Cancer Manag.5(4):e80839.

Abstract

Background: Breast cancer is the most common malignancy in Iranian women. Mutations in BRCA1 gene is one of the important genetic predisposing factors in breast cancer. This gene is a tumor suppressor that plays an important role in regulating the functions of RAD51 protein for strand invasion in homologous recombination repair.

Methods: The BRCA1 gene has amplified in the DNA isolated from breast cancer patients' leukocytes, using Polymerase Chain Reaction technique. The PCR products have sequenced using an automated DNA sequencer and subsequently obtained data have aligned with the human BRCA1 DNA sequences available online.

Results: In this study, we have considered nine different mutations on 60 examined chromosomes from 30 patients, living in Kerman province. A deletion of one adenine (c.1017delA) and insertion of one cytosine (c.969InsC) have found as the most frequent (20%) mutation in this survey. A substitution of thymine for adenine (c.999T>A) has detected as the second common BRCA1 gene defect (6.7%). The other mutations have identified as single nucleotide replacement including: c.792A>C, c.825G>C, c.822T>A, c.1068A>G, c.969A>T and c.966T>C.

Conclusion: The identified BRCA1 mutations were in accordance with the previous reports. To our knowledge, four mutations: (c.969InsC, c.792A>C, c.825G>C, c.822T>A) which have identified in this study, have not been previously reported in the literature. A larger cohort study would help identifying all relevant BRCA1 mutations in this population.

Keywords

Breast cancer

BRCA1 gene

DNA mutational analysis

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