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 HBOC...

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Main Authors: Bárbara Alemar, Cleandra Gregório, Josef Herzog, Camila Matzenbacher Bittar, Cristina Brinckmann Oliveira Netto, Osvaldo Artigalas, Ida Vanessa D Schwartz, Jordy Coffa, Suzi Alves Camey, Jeffrey Weitzel, Patricia Ashton-Prolla
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2017-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC5697861?pdf=render