Please use this identifier to cite or link to this item: https://repositorio.bahiana.edu.br:8443/jspui/handle/bahiana/3062
Title: The germline mutational landscape of BRCA1 and BRCA2 in Brazil
Other Titles: Scientific Reports
Authors: Miguel, Diego Santana Chaves Geraldo
Palmero, Edenir Inêz
Carraro, Dirce Maria
Alemar, Barbara
Moreira, Miguel Angelo Martins
Santos, Ândrea Ribeiro dos
Sandes, Kiyoko Abe
Galvão, Henrique Campos Reis
Reis, Rui Manuel
Souza, Cristiano de Pádua
Campacci, Natalia
Achatz, Maria Isabel
Brianese, Rafael Canfeld
Formiga, Maria Nirvana da Cruz
Makdissi, Fabiana Baroni
Vargas, Fernando Regla
Santos, Anna Cláudia Evangelista dos
Seuanez, Hector N.
Souza, Kelly Rose Lobo de
O. Netto, Cristina B.
Silva, Patrícia Santos
Silva, Gustavo Stumpf da
Burbano, Rommel M. R.
Santos, Sidney
Assumpção, Paulo Pimentel
Bernardes, Izabel Maria Monteiro
Lopes, Taisa Manuela Bonfim Machado
Bomfim, Thais Ferreira
Toralles, Maria Betânia Pereira
Nascimento, Ivana
Garicochea, Bernardo
Simon, Sergio D.
Noronha, Simone
Lima, Fernanda Teresa de
Chami, Anisse Marques
Bittar, Camila Matzenbacher
Bines, José
Artigalas, Osvaldo
Diz, Maria Del Pilar Esteves
Lajus, Tirzah Braz Petta
Gifoni, Ana Carolina Leite Vieira Costa
Guindalini, Rodrigo S. C.
Cintra, Terezinha Sarquis
Schwartz, Ida V. D.
Bernardi, Pricila
Nogueira, Sonia Tereza dos Santos
Herzog, Josef
Weitze, Jefrey N.
Prolla, Patricia Ashton
Issue Date: 15-Jun-2018
Abstract: The detection of germline mutations in BRCA1 and BRCA2 is essential to the formulation of clinical management strategies, and in Brazil, there is limited access to these services, mainly due to the costs/availability of genetic testing. Aiming at the identification of recurrent mutations that could be included in a low-cost mutation panel, used as a first screening approach, we compiled the testing reports of 649 probands with pathogenic/likely pathogenic variants referred to 28 public and private health care centers distributed across 11 Brazilian States. Overall, 126 and 103 distinct mutations were identified in BRCA1 and BRCA2, respectively. Twenty-six novel variants were reported from both genes, and BRCA2 showed higher mutational heterogeneity. Some recurrent mutations were reported exclusively in certain geographic regions, suggesting a founder effect. Our findings confirm that there is significant molecular heterogeneity in these genes among Brazilian carriers, while also suggesting that this heterogeneity precludes the use of screening protocols that include recurrent mutation testing only. This is the first study to show that profiles of recurrent mutations may be unique to different Brazilian regions. These data should be explored in larger regional cohorts to determine if screening with a panel of recurrent mutations would be effective.
URI: http://www7.bahiana.edu.br//jspui/handle/bahiana/3062
ISSN: 2045-2322
Appears in Collections:Artigos Completos Publicados em Periódicos

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