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.
Clinical Genetics Unit, University Clinic of Navarra, Avda Pio XII 36, 31008 Pamplona, Navarra, Spain. jsalgadog@unav.es
Josefa
J
Salgado
Cristina
C
Gutiérrez
Carmen
C
Gil
Maitane
M
Robles
Jesús
J
García-Foncillas
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