BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?

BACKGROUND: Germline pathogenic variants in BRCA1 and BRCA2 (BRCA) are the main cause of Hereditary Breast and Ovarian Cancer syndrome (HBOC). METHODS: In this study we evaluated the mutational profile and prevalence of BRCA pathogenic/likely pathogenic variants among probands fulfilling the NCCN HB...

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Publicado en:PLoS One
Autores principales: Alemar, Bárbara, Gregório, Cleandra, Herzog, Josef, Matzenbacher Bittar, Camila, Brinckmann Oliveira Netto, Cristina, Artigalas, Osvaldo, D. Schwartz, Ida Vanessa, Coffa, Jordy, Alves Camey, Suzi, Weitzel, Jeffrey, Ashton-Prolla, Patricia
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2017
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5697861/
https://ncbi.nlm.nih.gov/pubmed/29161300
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0187630
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