A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.
Scientific Reports
Castellanos, Elisabeth E; Gel, Bernat B; Rosas, Inma I; Tornero, Eva E; Santín, Sheila S; Pluvinet, Raquel R; Velasco, Juan J; Sumoy, Lauro L; Del Valle, Jesús J; Perucho, Manuel M; Blanco, Ignacio I; Navarro, Matilde M; Brunet, Joan J; Pineda, Marta M; Feliubadaló, Lidia L; Capellá, Gabi G; Lázaro, Conxi C; Serra, Eduard E
Publication Date: 2017-01-04
Variant appearance in text: BRCA2: 425+246G>C; rs11571613
BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin.
Springerplus
Solano, Angela Rosaria AR; Aceto, Gitana Maria GM; Delettieres, Dreanina D; Veschi, Serena S; Neuman, Maria Isabel MI; Alonso, Eduardo E; Chialina, Sergio S; Chacón, Reinaldo Daniel RD; Renato, Mariani-Costantini MC; Podestá, Ernesto Jorge EJ