BRCA1 polymorphism in breast cancer patients from Argentina

Jaure,Omar; Alonso,Eliana   N.; Braico,Diego   Aguilera; Nieto,Alvaro; Orozco,Manuela; Morelli,Cecilia; Ferro,Alejandro   M.; Barutta,Elena; Vincent,Esteban; Martínez,Domingo; Martínez,Ignacio; Maegli,Maria   Ines; Frizza,Alejandro; Kowalyzyn,Ruben; Salvadori,Marisa; Ginestet,Paul; Gonzalez Donna,Maria   L.; Balogh,Gabriela  A.

doi:10.3892/ol.2014.2772

February-2015 Volume 9 Issue 2

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February-2015 Volume 9 Issue 2

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Article

BRCA1 polymorphism in breast cancer patients from Argentina

Authors:
- Omar Jaure
- Eliana N. Alonso
- Diego Aguilera Braico
- Alvaro Nieto
- Manuela Orozco
- Cecilia Morelli
- Alejandro M. Ferro
- Elena Barutta
- Esteban Vincent
- Domingo Martínez
- Ignacio Martínez
- Maria Ines Maegli
- Alejandro Frizza
- Ruben Kowalyzyn
- Marisa Salvadori
- Paul Ginestet
- Maria L. Gonzalez Donna
- Gabriela A. Balogh
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Affiliations: Biotechnology Laboratory, Center of Research and Technology, CERZOS‑CONICET, Bahía Blanca, Buenos Aires 8000, Argentina, South Regional Italian Hospital, Bahía Blanca, Buenos Aires 8000, Argentina, Female Medical Institute MEDIFEM, Bahía Blanca, Buenos Aires 8000, Argentina, Lavalle Institute of Diagnostics, Bahía Blanca, Buenos Aires 8000, Argentina, Gynecology Services, Dr Leonidas Lucero's Hospital, Bahía Blanca, Buenos Aires 8000, Argentina, Viedma Clinic, Viedma, Rio Negro 8500, Argentina, Lucio Molas's Hospita, Santa Rosa, La Pampa 6300, Argentina, Pigue Municipal's Hospital, Pigue, Buenos Aires 8170, Argentina
Pages: 845-850
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Published online on: December 5, 2014

https://doi.org/10.3892/ol.2014.2772
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Abstract

Breast cancer is the most common type of cancer in females in Argentina, with an incidence rate similar to that in the USA. However, the contribution of the BRCA1 or BRCA2 mutation in breast cancer incidence has not yet been investigated in Argentina. In order to evaluate which BRCA1 polymorphisms or mutations characterize female breast cancer in Argentina, the current study enrolled 206 females with breast cancer from several hospitals from the southeast of Argentina. A buccal smear sample was obtained in duplicate from each patient and the DNA samples were processed for polymorphism analysis using the single‑strand conformational polymorphism technique. The polymorphisms in BRCA1 were investigated using a combination of 15 primers to analyze exons 2, 3, 5, 20 and 11 (including the 11.1 to 11.12 regions). The BRCA1 mutations were confirmed by direct sequencing. Samples were successfully examined from 154 females and, among these, 16 mutations were identified in the BRCA1 gene representing 13.9% of the samples analyzed. One patient was identified with a polymorphism in exon 2 (0.86%), four in exon 20 (3.48%), four in exon 11.3 (3.48%), one in exon 11.7 (0.86%), two in exon 11.8 (1.74%), one in exon 11.10 (0.86%) and one in exon 11.11 (0.86%). The most prevalent alteration in BRCA1 was located in exon 11 (11 out of 16 patients; 68.75%). The objective of our next study is to evaluate the prevalence of mutations in the BRCA2 gene and analyze the BRCA1 gene in the healthy relatives of BRCA1 mutation carriers.

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1	Farooq A, Naveed AK, Azeem Z and Ahmad T: Breast and ovarian cancer risk due to prevalence of BRCA1 and BRCA2 variants in Pakistani population: A Pakistani database report. J Oncol. 2011:6328702011. View Article : Google Scholar : PubMed/NCBI
2	van der Groep P, van der Wall E and van Diest PJ: Pathology of hereditary breast cancer. Cell Oncol (Dordr). 34:71–88. 2011. View Article : Google Scholar
3	Pruthi S, Gostout BS and Lindor NM: Identification and management of women with BRCA mutations or hereditary predisposition for breast and ovarian cancer. Mayo Clin Proc. 85:1111–1120. 2010. View Article : Google Scholar : PubMed/NCBI
4	Ewald IP, Izetti P, Vargas FR, et al: Prevalence of the BRCA1 founder mutation c.5266dupin Brazilian individuals at-risk for the hereditary breast and ovarian cancer syndrome. Hered Cancer Clin Pract. 9:122011. View Article : Google Scholar : PubMed/NCBI
5	Lim MJ, Foster GJ, Gite S, Ostendorff HP, Narod S and Rothschild KJ: An ELISA-based high throughput protein truncation test for inherited breast cancer. Breast Cancer Res. 12:R782010. View Article : Google Scholar : PubMed/NCBI
6	Dufloth RM, Carvalho S, Heinrich JK, Shinzato JY, dos Santos CC, Zeferino LC and Schmitt F: Analysis of BRCA1 and BRCA2 mutations in Brazilian breast cancer patients with positive family history. Sao Paulo Med J. 123:192–197. 2005. View Article : Google Scholar
7	Hall JM, Lee MK, Newman B, et al: Linkage of early-onset familial breast cancer to chromosome 17q21. Science. 250:1684–1689. 1990. View Article : Google Scholar : PubMed/NCBI
8	Miki Y, Swensen J, Shattuck-Eidens D, et al: A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 266:66–71. 1994. View Article : Google Scholar : PubMed/NCBI
9	Wooster R, Neuhausen SL, Mangion J, et al: Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12–13. Science. 265:2088–2090. 1994. View Article : Google Scholar : PubMed/NCBI
10	Wooster R, Bignell G, Lancaster J, et al: Identification of the breast cancer susceptibility gene BRCA2. Nature. 378:789–792. 1995. View Article : Google Scholar : PubMed/NCBI
11	Yoshida K and Miki Y: Role of BRCA1 and BRCA2 as regulators of DNA repair, transcription, and cell cycle in response to DNA damage. Cancer Sci. 95:866–871. 2004. View Article : Google Scholar : PubMed/NCBI
12	Domchek SM and Greenberg RA: Breast cancer gene variants: separating the harmful from the harmless. J Clin Invest. 119:2895–2897. 2009. View Article : Google Scholar : PubMed/NCBI
13	Hedau S, Jain N, Husain SA, et al: Novel germline mutations in breast cancer susceptibility genes BRCA1, BRCA2 and p53 gene in breast cancer patients from India. Breast Cancer Res Treat. 88:177–186. 2004. View Article : Google Scholar : PubMed/NCBI
14	Yassaee VR, Zeinali S, Harirchi I, Jarvandi S, Mohagheghi MA, Hornby DP and Dalton A: Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer. Breast Cancer Res. 4:R62002. View Article : Google Scholar : PubMed/NCBI
15	Koumpis C, Dimitrakakis C, Antsaklis A, Royer R, Zhang S, Narod SA and Kotsopoulos J: Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Greece. Hered Cancer Clin Pract. 9:102011. View Article : Google Scholar : PubMed/NCBI
16	Cierniková S, Tomka M, Sedláková O, et al: The novel exon 11 mutation of BRCA1 gene in a high-risk family. Neoplasma. 50:403–407. 2003.PubMed/NCBI
17	Risch HA, McLaughlin JR, Cole DE, et al: Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada. J Natl Cancer Inst. 98:1694–1706. 2006. View Article : Google Scholar : PubMed/NCBI
18	Vorkas PA, Christopoulos K, Kroupis C, et al: Mutation scanning of exon 20 of the BRCA1 gene by high-resolution melting curve analysis. Clin Biochem. 43:178–185. 2010. View Article : Google Scholar
19	Paradiso A and Formenti S: Hereditary breast cancer: clinical features and risk reduction strategies. Ann Oncol. 22(Suppl 1): i31–i36. 2011. View Article : Google Scholar : PubMed/NCBI
20	Surbone A: Social and ethical implications of BRCA testing. Ann Oncol. 22(Suppl 1): i60–i66. 2011. View Article : Google Scholar : PubMed/NCBI
21	Aarøe J, Lindahl T, Dumeaux V, et al: Gene expression profiling of peripheral blood cells for early detection of breast cancer. Breast Cancer Res. 12:R72010. View Article : Google Scholar : PubMed/NCBI

Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

BRCA1 polymorphism in breast cancer patients from Argentina

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