Article
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?
PloS one - 1 Jan 2017
Alemar Bárbara, Gregório Cleandra, Herzog Josef, Matzenbacher Bittar Camila, Brinckmann Oliveira Netto Cristina, Artigalas Osvaldo, Schwartz Ida Vanessa D, Coffa Jordy, Alves Camey Suzi, Weitzel Jeffrey, Ashton-Prolla Patricia
Abstract excerpt
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 testing criteria. We characterized the clinical profile of these individuals and explored the performance of...
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