title: Should a BRCA2 stop codon human variant, usually considered a polymorphism, be classified as a predisposing mutation?
authors: CEINGE-Biotecnologie Avanzate, Naples, Italy.
authors: Valeria
authors: V
authors: D'Argenio
authors: Maria Valeria
authors: MV
authors: Esposito
authors: Jean Ann
authors: JA
authors: Gilder
authors: Giulia
authors: G
authors: Frisso
authors: Francesco
authors: F
authors: Salvatore
mesh_terms: D000368:Aged; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D018388:Codon, Terminator; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D018095:Germ-Line Mutation; D006801:Humans; D008239:Lysine; D008297:Male; D008875:Middle Aged; D009369:Neoplasms / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D024682:BRCA2 Protein; C551750:BRCA2 protein, human; D018388:Codon, Terminator; D008239:Lysine