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: BRCA1: 4986+222A>G; rs3092987
A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer.
Bmc Medical Genetics
Garcia-Casado, Zaida Z; Romero, Ignacio I; Fernandez-Serra, Antonio A; Rubio, Luis L; Llopis, Francisco F; Garcia, Ana A; Llombart, Pilar P; Lopez-Guerrero, Jose A JA