2 documents found, page 1 of 1
Identification of hereditary cancer in the general population: development and ...
Campacci, Natália; Lima, Juliana O. de; Carvalho, André Lopes; Michelli, Rodrigo A. D.; Haikel Junior, Raphael L.; Mauad, Edmundo; Viana, DaniloOne of the challenges for Latin American countries is to include in their healthcare systems technologies that can be applied to hereditary cancer detection and management. The aim of the study is to create and validate a questionnaire to identify individuals with possible risk for hereditary cancer predisposition syndromes (HCPS), using different strategies in a Cancer Prevention Service in Brazil. The primary...
Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk fo...
Fernandes, Gabriela C.; Michelli, Rodrigo A. D.; Galvão, Henrique C. R.; Paula, André E. de; Pereira, Rui; Andrade, Carlos E.; Felicio, Paula S.Background: There are very few data about the mutational profile of families at-risk for hereditary breast and ovarian cancer (HBOC) from Latin America (LA) and especially from Brazil, the largest and most populated country in LA. Results: Of the 349 probands analyzed, 21.5% were BRCA1/BRCA2 mutated, 65.3% at BRCA1 and 34.7% at BRCA2 gene. The mutation c. 5266dupC (former 5382insC) was the most frequent alterat...