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dc.contributor.author
Solano, Angela Rosario
dc.contributor.author
Aceto, Gitana Maria
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Delettieres, Dreanina
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Veschi, Serena
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Neuman, Maria Isabel
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Alonso, Eduardo
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Chialina, Sergio
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Chacón, Reinaldo Daniel
dc.contributor.author
Renato, Mariani-Costantini
dc.contributor.author
Podesta, Ernesto Jorge
dc.date.available
2019-01-04T18:38:27Z
dc.date.issued
2012-09
dc.identifier.citation
Solano, Angela Rosario; Aceto, Gitana Maria; Delettieres, Dreanina; Veschi, Serena; Neuman, Maria Isabel; et al.; BRCA1 and BRCA2 analysis of argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin; Springer; SpringerPlus; 1; 1; 9-2012; 1-10
dc.identifier.issn
2193-1801
dc.identifier.uri
http://hdl.handle.net/11336/67432
dc.description.abstract
Background: The spectrum of BRCA1/2 genetic variation in breast-ovarian cancer patients has been scarcely investigated outside Europe and North America, with few reports for South America, where Amerindian founder effects and recent multiracial immigration are predicted to result in high genetic diversity. We describe here the results of BRCA1/BRCA2 germline analysis in an Argentinean series of breast/ovarian cancer patients selected for young age at diagnosis or breast/ovarian cancer family history. Methods: The study series (134 patients) included 37 cases diagnosed within 40 years of age and no family history (any ethnicity, fully-sequenced), and 97 cases with at least 2 affected relatives (any age), of which 57 were non-Ashkenazi (fully-sequenced) and 40 Ashkenazi (tested only for the founder mutations c.66_67delAG and c.5263insC in BRCA1 and c.5946delT in BRCA2). Discussion: We found 24 deleterious mutations (BRCA1:16; BRCA2: 8) in 38/134 (28.3%) patients, of which 6/37 (16.2%) within the young age group, 15/57 (26.3%) within the non-Ahkenazi positive for family history; and 17/40 (42.5%) within the Ashkenazi. Seven pathogenetic mutations were novel, five in BRCA1: c.1502_1505delAATT, c.2626_2627delAA c.2686delA, c.2728 C > T, c.3758_3759delCT, two in BRCA2: c.7105insA, c.793 + 1delG. We also detected 72 variants of which 54 previously reported and 17 novel, 33 detected in an individual patient. Four missense variants of unknown clinical significance, identified in 5 patients, are predicted to affect protein function. While global and European variants contributed near 45% of the detected BRCA1/2 variation, the significant fraction of new variants (25/96, 26%) suggests the presence of a South American genetic component. This study, the first conducted in Argentinean patients, highlights a significant impact of novel BRCA1/2 mutations and genetic variants, which may be regarded as putatively South American, and confirms the important role of founder BRCA1 and BRCA2 mutations in Argentinean Ashkenazi Jews. © 2012 Solano et al.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Springer
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Argentina
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Ashkenazi
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Brca1/Brca2
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Early Onset Breast Cancer
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Ethnicity
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Familial Breast Cancer
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Genetic Variants
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Germline Mutations
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Medicina Critica y de Emergencia
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Medicina Clínica
dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
BRCA1 and BRCA2 analysis of argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2019-01-02T19:40:30Z
dc.journal.volume
1
dc.journal.number
1
dc.journal.pagination
1-10
dc.journal.pais
Alemania
dc.journal.ciudad
Berlin
dc.description.fil
Fil: Solano, Angela Rosario. Universidad de Buenos Aires; Argentina. Centro de Internación E Investigación Clínica; Argentina
dc.description.fil
Fil: Aceto, Gitana Maria. University Of G. D'annunzio Chieti And Pescara;
dc.description.fil
Fil: Delettieres, Dreanina. Centro de Internación E Investigación Clínica; Argentina
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Fil: Veschi, Serena. University Of G. D'annunzio Chieti And Pescara;
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Fil: Neuman, Maria Isabel. Universidad de Buenos Aires; Argentina
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Fil: Alonso, Eduardo. Instituto Universitario del Hospital Italiano de Buenos Aires; Argentina
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Fil: Chialina, Sergio. Instituto Universitario del Hospital Italiano de Buenos Aires; Argentina
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Fil: Chacón, Reinaldo Daniel. Universidad de Buenos Aires; Argentina
dc.description.fil
Fil: Renato, Mariani-Costantini. University Of G. D'annunzio Chieti And Pescara;
dc.description.fil
Fil: Podesta, Ernesto Jorge. Universidad de Buenos Aires; Argentina
dc.journal.title
SpringerPlus
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/https://doi.org/10.1186/2193-1801-1-20
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://springerplus.springeropen.com/articles/10.1186/2193-1801-1-20
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