Detection of a novel mutations in Exon 11 of BRCA1 gene in the patients with hereditary breast cancer

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MIRESMAEILI SEYED MOHSEN; KALANTAR SEYED MEHDI

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Journal Paper

Paper Information

Journal: Journal of Shahid Sadoughi University of Medical Sciences Year:2018 | Volume:26 | Issue:8 Page(s): 733-739

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Information Journal Paper

Title

Detection of a novel mutations in Exon 11 of BRCA1 gene in the patients with hereditary breast cancer

Author(s)

MIRESMAEILI SEYED MOHSEN | KALANTAR SEYED MEHDI | Issue Writer Certificate

Keywords

Breast CancerQ1

BRCA1 geneQ2

DNA SequencingQ1

Exon11Q1

Abstract

Introduction: Breast Cancer is the most common malignancy in women worldwide. BRCA1 is a tumor suppressor gene that is involved in DNA-damage repair. One of the significant risk factors of Breast Cancer is the family history. BRCA1 gene consists of 24 exons that encode a protein with 1863 amino acids. Exon 11 is the largest exons and most of the disease-linked mutations have been found in it. Inherited mutations in the BRCA1 gene are constituted for the major hereditary Breast Cancer cases. Deficiency in BRCA1 gene was considered to be a high risk in the families with Breast Cancer. The goal of this study was to evalute mutation in BRCA1 gene in the patients with Breast Cancer. Methods: In this study, blood samples were collected from 200 Breast Cancer patients. 40 patients suffer from hereditary Breast Cancer, after DNA extraction, exon 11 of BRCA1 genes were evaluated by PCRSSCP technique followed by direct sequencing and the result of the changes was evaluated by in silico analysis. Results: The samples, showing mobility shift on SSCP analysis, were used for direct DNA Sequencing, two new missense mutations c. 3059C>T (p. Pro1020Leu) and (p. Thr1025Ile) c. 3074C>T were detected in the patients with hereditary Breast Cancer. In silico analysis on protein function revealed that the mutation c. 3074C>T effected on protein structure and predicted to be possibly damaging. Conclusion: Screening of the BRCA1 gene mutation can help to manage the treatment of the patients and their families. Therefore, for families exposed to cancer, genetic screening can help family members know if they need tests to look for cancer early, or if they should take steps to reduce their risk.

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References

BRIEF REPORT: EVALUATING THE MOST COMMON MUTATION IN BRCAI AND BRCA2 GENES IN WOMEN WHO HAD MOTHERS WITH BREST CANCER AND CONTROLS

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APA: Copy

MIRESMAEILI, SEYED MOHSEN, & KALANTAR, SEYED MEHDI. (2018). Detection of a novel mutations in Exon 11 of BRCA1 gene in the patients with hereditary breast cancer. JOURNAL OF SHAHID SADOUGHI UNIVERSITY OF MEDICAL SCIENCES, 26(8 ), 733-739. SID. https://sid.ir/paper/35788/en

Vancouver: Copy

MIRESMAEILI SEYED MOHSEN, KALANTAR SEYED MEHDI. Detection of a novel mutations in Exon 11 of BRCA1 gene in the patients with hereditary breast cancer. JOURNAL OF SHAHID SADOUGHI UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2018;26(8 ):733-739. Available from: https://sid.ir/paper/35788/en

IEEE: Copy

SEYED MOHSEN MIRESMAEILI, and SEYED MEHDI KALANTAR, “Detection of a novel mutations in Exon 11 of BRCA1 gene in the patients with hereditary breast cancer,” JOURNAL OF SHAHID SADOUGHI UNIVERSITY OF MEDICAL SCIENCES, vol. 26, no. 8 , pp. 733–739, 2018, [Online]. Available: https://sid.ir/paper/35788/en

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