Minor role of BRCA2 mutation (Exon2 and Exon11) in patients with early-onset breast cancer amongst Iranian Azeri-Turkish women

Document Type : Original Article

Authors

1 Medical Genetic Department Medical Faculty, Tabriz University of Medical Sciences, Tabriz, Iran

2 General Surgery Department Medical Faculty, Tabriz University of Medical Sciences, Tabriz, Iran

Abstract

Objective(s): Breast cancer is the most common cancer in women. Every year, one million new cases are reported worldwide, representing 18% of the total number of cancer in women. Hereditary BRCA1 and BRCA2 mutations account for about 60% of inherited breast cancer and are the only known causes of hereditary breast cancer syndrome. The aim of this study was to determine the frequency of BRCA2 (exon2 and exon11) gene mutation in patients with early-onset breast cancer among Iranian Azeri-Turkish women.
Materials and Methods: We obtained clinical information, family history and peripheral blood from 110 women under the age of 45 with early-onset breast cancer for scanning germline mutations in the exon2 and 11 of BRCA2 genes which comprises over 50% of the gene. Single-strand conformation polymorphism assay was used in order for screening potential mutations on amplified regions followed by direct sequencing analysis to determine the genotypes.
Results: Overall, 11 sequence variants were identified in this study group, including four homozygotes and seven heterozygotes silent substitution of c.3807T to C, p.Val1269Val (rs543304).
Conclusion: Mutations in BRCA2 were surprisingly infrequent in the early onset breast cancer patients among Iranian Azeri-Turkish women.

Keywords

References

1. Saxena S, Chakraborty A, Kaushal M, Kotwal S, Bhatanager D, Mohil RS, et al. Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India .BMC Med Genet 2006; 7:75.Kolahdoozan S, Sadjadi A, Radmard AR, Khademi H. Five common cancers in Iran. Arch Iran Med 2010;13:143-146.
 2. Bernard-Gallon DJ, Dechelotte P, Vissac C, Aunoble B, Cravello L, Malpuech G et al. BRCA1 and BRCA2 protein expressions in an ovotestis of a 46, XX true hermaphrodite. Breast Cancer Res 2001; 3:61-65.
 3. Blackwood MA, Weber BL. BRCA1 and BRCA2: from molecular genetics to clinical medicine. J Clin Oncol 1998;16:1969-1977
 4. Saxena S, Szabo CI, Chopin S, Barjhoux L, Sinilnikova O, Lenoir G,et al. BRCA1 and BRCA2 in Indian breast cancer patients. Hum Mutat 2002; 20:473-474.
 5.Raieevi L. Breast cancer susceptibility Gene 2 - BRCA2. Archive of Oncology 2001;9:115-118.
 6. Hofmann W, Schlag PM. BRCA1 and BRCA2--breast cancer susceptibility genes. J Cancer Res Clin Oncol 2000;126:487-496.
 7. Yassaee VR, Zeinali S, Harirchi I, Jarvandi S, Mohagheghi MA, Hornby DP,et al. Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer. Breast Cancer Res 2002;4:R6.
8. Ghaderi A, Talei A, Farjadian S, Mosalaei A, Doroudchi M, Kimura H. Germline BRCA1 mutations in Iranian women with breast cancer. Cancer Lett 2001;165:87-94
 9. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells, Nucleic Acids Res. 1988 February 11; 16: 1215.
10. Liede A,Narod SA. Hereditary breast and ovarian cancer in Asia: genetic epidemiology of BRCA1 and BRCA2. Hum Mutat 2002;20:413-424.
 11. Fattahi MJ, Mojtahedi Z, Karimaghaee N, Talei AR, Banani SJ, Ghaderi A. Analysis of BRCA1 and BRCA2 mutations in southernIranian Breast cancer patients. Arch Iran Med 2009;12:584-587
 12. Caux-Moncoutier V, Pages-Berhouet S, Michaux D, Asselain B, Castera L, de PA,et al.  Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study. Eur J Hum Genet 2009; 17:1471-1480.
 
Iranian Journal of Basic Medical Sciences
Volume 17, Issue 2 - Serial Number 2
February 2014
Pages 108-111

Files

Share

How to cite

Statistics