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Palmero, Edenir Inêz; Carraro, Dirce Maria; Alemar, Barbara; Moreira, Miguel Angelo Martins; Ribeiro-Dos-Santos, Ândrea; Abe-Sandes, Kiyoko; Galvão, Henrique Campos Reis; Reis, Rui Manuel; de Pádua Souza, Cristiano; Campacci, Natalia; Achatz, Maria Isabel; Brianese, Rafael Canfield; da Cruz Formiga, Maria Nirvana; Makdissi, Fabiana Baroni; Vargas, Fernando Regla; Evangelista Dos Santos, Anna Cláudia; Seuanez, Hector N; Lobo de Souza, Kelly Rose; Netto, Cristina B O; Santos-Silva, Patrícia; da Silva, Gustavo Stumpf; Burbano, Rommel M R; Santos, Sidney; Assumpção, Paulo Pimentel; Bernardes, Izabel Maria Monteiro; Machado-Lopes, Taisa Manuela Bonfim; Bomfim, Thais Ferreira; Toralles, Maria Betânia Pereira; Nascimento, Ivana; Garicochea, Bernardo; Simon, Sergio D; Noronha, Simone; de Lima, Fernanda Teresa; Chami, Anisse Marques; Bittar, Camila Matzenbacher; Bines, Jose; Artigalas, Osvaldo; Esteves-Diz, Maria Del Pilar; Lajus, Tirzah Braz Petta; Gifoni, Ana Carolina Leite Vieira Costa; Guindalini, Rodrigo S C; Cintra, Terezinha Sarquis; Schwartz, Ida V D; Bernardi, Pricila; Miguel, Diego; Nogueira, Sonia Tereza Dos Santos; Herzog, Josef; Weitzel, Jeffrey N; Ashton-Prolla, Patricia
Scientific reports, 06/2018, Letnik: 8, Številka: 1Journal Article
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.
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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Vir: Osebne bibliografije
in: SICRIS
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