A non-random deletion in the p53 gene in oral squamous cell carcinoma.
In a retrospective study of the mutational spectrum of the p53 gene in oral squamous cell carcinoma, 80 primary tumours diagnosed in 1980-90 were included. Using polymerase chain reaction/single strand conformation polymorphism (PCR/SSCP) analysis 47 mutations were found distributed in 39 of the tumours (49%). Unexpectedly, the majority of the mutations (29/47; 62%) were found in exon 8, and at sequencing 17 of them showed a 14 bp deletion in codons 287-292, causing formation of a stop codon and accordingly a truncated protein lacking the C-terminal. The majority of the patients with the 14 bp deletion were women (13/17), and it seemed as though certain potential risk factors for carcinoma of the head and neck were less common in this group.
Nylander
K
K
Department of Oral Pathology, Umeå University, Sweden.
Schildt
E B
EB
Eriksson
M
M
Magnusson
A
A
Mehle
C
C
Roos
G
G
D000367:Age Factors; D000368:Aged; D001483:Base Sequence; D002273:Carcinogens; D002294:Carcinoma, Squamous Cell / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D003062:Codon; D017931:DNA Primers; D004781:Environmental Exposure; D005091:Exons; D005260:Female; D016158:Genes, p53; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009062:Mouth Neoplasms / Q000145:classification / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012189:Retrospective Studies; D012307:Risk Factors; D017384:Sequence Deletion; D012727:Sex Characteristics; D012907:Smoking
D002273:Carcinogens; D003062:Codon; D017931:DNA Primers