Výsledky vyhledávání - "Lina Maria Nunez"

Spectrum of BRCA1/2 variants in 940 patients from Argentina including novel, deleterious and recurrent germline mutations: Impact on healthcare and clinical practice

Publikováno v: Oncotarget
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET

BRCA1/2 mutations in Latin America are scarcely documented and in serious need of knowledge about the spectrum of BRCA pathogenic variants, information which may alter clinical practice and subsequently improve patient outcome. In addition, the searc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7202608cb01523f061243d80cfde7293
http://www.oncotarget.com/index.php?journal=oncotarget&page=article&op=view&path[]=10814&path[]=34241

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Profile of BRCA1/2 variants in patients from CEMIC and the University of Buenos Aires including novel findings, deleterious mutations, variants affecting protein function, and recurrent germline mutations

Autor: Angela R. Solano, Oscar Gaspar Mandó, Fernando A. Poletta, Lina Maria Nunez, Florencia Cecilia Cardoso, Ernesto J. Podestá, Juan Martin Marques, Jorge Santiago López Camelo, Vanesa Romano, Silvia Quiroga

Publikováno v: Journal of Clinical Oncology. 33:e12515-e12515

e12515 Background: Sequence data related to inherited cancers associated genes is scarce for South America population. Genetic variants of the BRCA1/2 genes, as a result of 15 years of experience i...

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::120c0dd281edec57575e052bef1a2c21
https://doi.org/10.1200/jco.2015.33.15_suppl.e12515

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Argentinean Jewish population frequencies for common mutations in BRCA1, BRCA2, and CHEK2

Autor: Lucas Alterman, Gabriel Ercoli, Lina Maria Nunez, Daniel Eduardo Levy, Roxana Cerretini, Rita Valdez, Paola Jablonski, Graciela Mercado, Hugo Gass, Eduardo Pastene, Mariel Ormazabal

Publikováno v: Journal of Clinical Oncology. 32:1539-1539

1539 Background: Specific founder mutations 187_188delAG; 5385_5386insC and A1708E in BRCA1 and 6174delT and IVS2+1G>A in BRCA2 have been reported in Jews of Israel and United States. Moderate pene...

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8a3f01c206ad4f334122dbacbf48682e
https://doi.org/10.1200/jco.2014.32.15_suppl.1539

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