Comparative disease pattern of a patient with a novel BRCA2 truncation and knockout models for BRCA2.
We report a novel germline 490delCT mutation in BRCA2 gene, detected in a 38-year-old woman with breast cancer. The mutation originates a premature stop at codon 99, leading to a truncated protein, and has not been documented in any published report to the best of our knowledge.
Salgado
Josefa
J
Clinical Genetics Unit, University Clinic of Navarra, Avda Pio XII 36, 31008 Pamplona, Navarra, Spain. jsalgadog@unav.es
Gutiérrez
Cristina
C
Gil
Carmen
C
Robles
Maitane
M
García-Foncillas
Jesús
J
D000328:Adult; D000818:Animals; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics* / Q000473:pathology*; D018270:Carcinoma, Ductal, Breast / Q000235:genetics* / Q000473:pathology; D004195:Disease Models, Animal; D005260:Female; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D006801:Humans; D051379:Mice; D018345:Mice, Knockout; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D051381:Rats; D020133:Reverse Transcriptase Polymerase Chain Reaction