Volume 14, Issue 4 (4-2016)                   IJRM 2016, 14(4): 271-274 | Back to browse issues page


XML Persian Abstract Print


Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

Miresmaeili S M, Kordi Tamandani D M, Kalantar S M, Moshtaghioun S M. Haplotype analysis of BRCA1 intragenic markers in Iranian patients with familial breast and ovarian cancer. IJRM 2016; 14 (4) :271-274
URL: http://ijrm.ir/article-1-741-en.html
1- Department of Biology, Faculty of Science, University of Sistan and Baluchestan, Zahedan, Iran
2- Department of Biology, Faculty of Science, University of Sistan and Baluchestan, Zahedan, Iran , dor_kordi@ yahoo.com
3- Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
4- Department of Biology, Faculty of Sciences, University of Yazd, Yazd, Iran
Abstract:   (2498 Views)
Background: Breast cancer is the most common malignancy in women. Breast Cancer Type 1 Susceptibility gene (BRCA1) is a tumor suppressor gene, involved in DNA damage repair and in 81% of the breast-ovarian cancer families were due to BRCA1. In some clinically investigated genes, the intragenic marker polymorphism is important and the screening of such mutations is faster by using short tandem repeat (STR) polymorphism. Individual polymorphism of STR is a good evidence for following inheritance of repeat polymorphism.
Objective: The aim of this study was to evaluate three intragenic BRCA1 marker polymorphisms in families, which have two or more patients with breast/ovarian cancer in comparison to healthy women.
Materials and Methods: A total of 107 breast and/or ovarian cancer patients and 93 unrelated healthy women with no clinical phenotype of any malignancy or familial cancer history constitute the study groups. Haplotyping analysis, at 3 intragenic BRCA1 microsatellite markers (D17S855, D17S1322 and D17S1323), were performed for all subject and control groups using labeled primers.
Results: After fragment analysis, significance differences were observed as follows: two alleles of D17S855; allele 146 (p=0.02) and 150 (p=0.006), and two alleles of D17S1322, allele 121 (p=0.015) and 142 (p=0.043). These differences were compared with control group. There was significance difference in 8 di/tri allelic haplotypes in present experimental subjects. Some haplotypes were observed to have approximately twice the relation risk for breast cancer. 
Conclusion: According to recent results, assessment of presence or absence of mentioned alleles in BRCA1 microsatellite can be used for prognosis in individuals, suspected of having or not having the breast cancer.
Full-Text [PDF 382 kb]   (629 Downloads) |   |   Full-Text (HTML)  (307 Views)  
Type of Study: Original Article |

References
1. Raičević-Maravić L, Radulović S. Breast cancer susceptibility Gene 2-BRCA2. Arch Oncol 2001; 9: 115-118.
2. Miki Y, Swensen J, Shattuck-eidens D, Futreal PA, Harshman K, Tavtigian S, et al. Strong Candidate for the Breast and Ovarian Cancer. Science 1994; 266: 66-71. [DOI:10.1126/science.7545954]
3. Alsop K, Fereday S, Meldrum C, DeFazio A, Emmanuel C, George J, et al. BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: A report from the Australian ovarian cancer study group. J Clin Oncol 2012; 30: 2654-2663. [DOI:10.1200/JCO.2011.39.8545]
4. Li ML A, Greenberg R. Links between genome integrity and BRCA1 tumor suppression. Trends Biochem Sci 2012; 37: 418-424. [DOI:10.1016/j.tibs.2012.06.007]
5. Siegel R, Ma J, Zou Z, Jemal A. Cancer Statistics, 2014. CA Cancer J Clin 2014; 64: 9-29. [DOI:10.3322/caac.21208]
6. Karami F, Mehdipour P. A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer. BioMed Res Int 2013; ID 928562.
7. Couch FJ, Nathanson KL, Offit K. Two Decades After BRCA: Setting Paradigms in Personalized Cancer Care and Prevention. Science 2014; 343: 1466-1470. [DOI:10.1126/science.1251827]
8. Claus EB, Risch N, Thompson WD. Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction. Cancer 1994; 73: 643-651. https://doi.org/10.1002/1097-0142(19940201)73:3<643::AID-CNCR2820730323>3.0.CO;2-5 [DOI:10.1002/1097-0142(19940201)73:33.0.CO;2-5]
9. Clark SL, Rodriguez AM, Snyder RR, Hankins GDV, Boehning D. Structure-Function Of The Tumor Suppressor BRCA1. Comp Struct Biotech J 2012; 1: 1-8. [DOI:10.5936/csbj.201204005]
10. Laitman Y, Feng B-J, Zamir IM, Weitzel JN, Duncan P, Port D, et al. Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations. Eur J Hum Genet 2013; 21: 212-216. [DOI:10.1038/ejhg.2012.124]
11. Ali AB, Iau PT, Putti TC, Sng JH. BRCA1 disease-associated haplotypes in Singapore Malay women with early-onset breast/ovarian cancer. Breast Cancer Res Treatment 2007; 104: 351-313. [DOI:10.1007/s10549-006-9467-6]
12. Russo A, Calò V, Augello C, Bruno L, Agnese V, Schirò V, et al. 4843delC of the BRCA1 gene is a possible founder mutation in Southern Italy (Sicily). Annal Oncol 2007; 18(Suppl.): 99-102. [DOI:10.1093/annonc/mdm235]
13. Ferla R, Calò V, Cascio S, Rinaldi G, Badalamenti G, Carreca I, et al. Founder mutations in BRCA1 and BRCA2 genes. Annal Oncol 2007; 18 (Suppl.): 93-98. [DOI:10.1093/annonc/mdm234]
14. Sidoni T, Cocciolone V, Giannini G, Russo a., Baudi F, Cannita K, et al. Identification and Characterization of BRCA1 and BRCA2 Founder Mutations. Current Women's Health Rev 2012; 8: 17-22. [DOI:10.2174/157340412799079192]
15. Anagnostopoulos T, Pertesi M, Konstantopoulou I, Armaou S, Kamakari S, Nasioulas G, et al. G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: Evaluation of its pathogenicity and inferences on its genealogical history. Breast Cancer Res Treatment 2008; 110: 377-385. [DOI:10.1007/s10549-007-9729-y]
16. Janavičius R. Founder BRCA1/2 mutations in the Europe: Implications for hereditary breast-ovarian cancer prevention and control. EPMA J 2010; 1: 397-412. [DOI:10.1007/s13167-010-0037-y]
17. Bardia A, Tiwari SK, Vishwakarma SK, Habeeb MA, Nallari P, Sultana SA, et al. Haplotype Analyses of DNA Repair Gene Polymorphisms and Their Role in Ulcerative Colitis. Plos One 2014; 9: e108562. [DOI:10.1371/journal.pone.0108562]
18. Osorio A, de la Hoya M, Rodríguez-López R, Granizo JJ, Díez O, Vega A, et al. Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations. Eur J Hum Genet 2003; 11: 489-492. [DOI:10.1038/sj.ejhg.5200969]
19. Mefford HC, Baumbach L, Panguluri RC, Whitfield-Broome C, Szabo C, Smith S, et al. Evidence for a BRCA1 founder mutation in families of West African ancestry. Am J Hum Genet 1999; 65: 575-578. [DOI:10.1086/302511]
20. Nowacka-Zawisza M, Brys M, Romanowicz-Makowska H, Kulig A, Krajewska WM. Dinucleotide repeat polymorphisms of RAD51, BRCA1, BRCA2 gene regions in breast cancer. Pathol Int 2008; 58: 275-281. [DOI:10.1111/j.1440-1827.2008.02223.x]
21. Pestonjamasp PH, Mittra I. Analysis of BRCA1 involvement in breast cancer in Indian women. J Biosci 2000; 25: 19-23. [DOI:10.1007/BF02985177]
22. De La Hoya M, Sulleiro S, Osorio A, Díez O, Baiget M, Benítez J, et al. Clustering of cancer-related mutations in a subset of BRCA1 alleles: A study in the Spanish population. Int J Cancer 2002; 100: 618-619. [DOI:10.1002/ijc.10527]
23. Hamel N, Feng B-J, Foretova L, Stoppa-Lyonnet D, Narod S a, Imyanitov E, et al. On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations. Eur J Hum Genet 2011; 19: 300-306. [DOI:10.1038/ejhg.2010.203]

Send email to the article author


Rights and permissions
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

Designed & Developed by : Yektaweb