title: BRCA1 polymorphism in breast cancer patients from Argentina.
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.
authors.affiliation: Biotechnology Laboratory, Center of Research and Technology, CERZOS-CONICET, Bahía Blanca, Buenos Aires 8000, Argentina.
authors.forename: Omar
authors.initials: O
authors.lastname: Jaure
authors.affiliation: Biotechnology Laboratory, Center of Research and Technology, CERZOS-CONICET, Bahía Blanca, Buenos Aires 8000, Argentina.
authors.forename: Eliana N
authors.initials: EN
authors.lastname: Alonso
authors.affiliation: Biotechnology Laboratory, Center of Research and Technology, CERZOS-CONICET, Bahía Blanca, Buenos Aires 8000, Argentina.
authors.forename: Diego Aguilera
authors.initials: DA
authors.lastname: Braico
authors.affiliation: Biotechnology Laboratory, Center of Research and Technology, CERZOS-CONICET, Bahía Blanca, Buenos Aires 8000, Argentina.
authors.forename: Alvaro
authors.initials: A
authors.lastname: Nieto
authors.affiliation: Biotechnology Laboratory, Center of Research and Technology, CERZOS-CONICET, Bahía Blanca, Buenos Aires 8000, Argentina.
authors.forename: Manuela
authors.initials: M
authors.lastname: Orozco
authors.affiliation: Biotechnology Laboratory, Center of Research and Technology, CERZOS-CONICET, Bahía Blanca, Buenos Aires 8000, Argentina.
authors.forename: Cecilia
authors.initials: C
authors.lastname: Morelli
authors.affiliation: South Regional Italian Hospital, Bahía Blanca, Buenos Aires 8000, Argentina.
authors.forename: Alejandro M
authors.initials: AM
authors.lastname: Ferro
authors.affiliation: Female Medical Institute MEDIFEM, Dr Leonidas Lucero's Hospital, Bahía Blanca, Buenos Aires 8000, Argentina.
authors.forename: Elena
authors.initials: E
authors.lastname: Barutta
authors.affiliation: Lavalle Institute of Diagnostics, Dr Leonidas Lucero's Hospital, Bahía Blanca, Buenos Aires 8000, Argentina.
authors.forename: Esteban
authors.initials: E
authors.lastname: Vincent
authors.affiliation: Gynecology Services, Dr Leonidas Lucero's Hospital, Bahía Blanca, Buenos Aires 8000, Argentina.
authors.forename: Domingo
authors.initials: D
authors.lastname: Martínez
authors.affiliation: Gynecology Services, Dr Leonidas Lucero's Hospital, Bahía Blanca, Buenos Aires 8000, Argentina.
authors.forename: Ignacio
authors.initials: I
authors.lastname: Martínez
authors.affiliation: Gynecology Services, Dr Leonidas Lucero's Hospital, Bahía Blanca, Buenos Aires 8000, Argentina.
authors.forename: Maria Ines
authors.initials: MI
authors.lastname: Maegli
authors.affiliation: Lavalle Institute of Diagnostics, Dr Leonidas Lucero's Hospital, Bahía Blanca, Buenos Aires 8000, Argentina.
authors.forename: Alejandro
authors.initials: A
authors.lastname: Frizza
authors.affiliation: Viedma Clinic, Viedma, Rio Negro 8500, Argentina.
authors.forename: Ruben
authors.initials: R
authors.lastname: Kowalyzyn
authors.affiliation: Lucio Molas's Hospita, Santa Rosa, La Pampa 6300, Argentina.
authors.forename: Marisa
authors.initials: M
authors.lastname: Salvadori
authors.affiliation: Pigue Municipal's Hospital, Pigue, Buenos Aires 8170, Argentina.
authors.forename: Paul
authors.initials: P
authors.lastname: Ginestet
authors.affiliation: South Regional Italian Hospital, Bahía Blanca, Buenos Aires 8000, Argentina.
authors.forename: Maria L
authors.initials: ML
authors.lastname: Gonzalez Donna
authors.affiliation: Biotechnology Laboratory, Center of Research and Technology, CERZOS-CONICET, Bahía Blanca, Buenos Aires 8000, Argentina.
authors.forename: Gabriela A
authors.initials: GA
authors.lastname: Balogh
keywords: BRCA1; breast cancer; polymorphisms