Identification of a new complex deleterious mutation in exon 18 of the BRCA2 gene in a hereditary male/female breast cancer family.
We report a novel complex mutation that consists of a deletion of 12 bp and an insertion of 2 bp (c.8402_8413del12ins2bp) in the exon 18 of the BRCA2 gene. This is a frameshift mutation that causes a disruption of the translational reading frame resulting in a stop codon downstream in the 2729 position of the BRCA2 protein. The mutation was present in a Spanish hereditary male/female breast cancer family.
Oncogenetics Laboratory, University Hospital Vall d'Hebron, 08035, Barcelona, Spain. Odiez@vhebron.net
Orland
O
Diez
Sara
S
Gutiérrez-Enríquez
Miriam
M
Masas
Anna
A
Tenés
Carme
C
Yagüe
Angels
A
Arcusa
Gemma
G
Llort
D000328:Adult; D000368:Aged; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics* / Q000473:pathology; D018567:Breast Neoplasms, Male / Q000235:genetics* / Q000473:pathology; D018388:Codon, Terminator; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D008297:Male; D008875:Middle Aged; D016254:Mutagenesis, Insertional; D009154:Mutation; D010375:Pedigree; D017384:Sequence Deletion; D013030:Spain
D024682:BRCA2 Protein; C551750:BRCA2 protein, human; D018388:Codon, Terminator