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New p53 mutations in hilar cholangiocarcinoma.

Abstract：

BACKGROUND:Inactivation of the tumour suppressor gene, p53, is the commonest genetic abnormality in human cancer. The study of the type of p53 mutation in a given tumour may provide prognostic information, clues to aetiology and become useful for therapeutics. MATERIALS AND METHODS:The molecular characterisation of p53 was performed by restriction analysis, denaturing gradient gel electrophoresis, and gene sequencing for exons 5-9. RESULTS:We report, p53 mutational analysis in exons 5-9 in 29 European patients with hilar cholangiocarcinoma who underwent attempted resection. Four patients (14%) showed somatic single nucleotide substitutions with amino acid changes (146, 163, 175, 158, and 175) with one showing mutations in two different positions involving a loss of two CfoI sites. All the mutations occurred in exon 5. Three patients had a germline polymorphism (10%) with a silent substitution in codon 213 (exon 6). CONCLUSIONS:The systematic screening for p53 mutations in European patients with hilar cholangiocarcinoma has shown that the type of mutation (except 175) is different and its incidence is much lower when compared to the pattern previously reported for intrahepatic cholangiocarcinoma in East Asian patients. A probable explanation is that the presence and type of p53 mutation is dependent on geographic and environmental factors which vary in different populations.

journal_name

Eur J Clin Invest

journal_title

European journal of clinical investigation

authors

Tullo A,D'Erchia AM,Honda K,Kelly MD,Habib NA,Saccone C,Sbisà E

doi

10.1046/j.1365-2362.2000.00717.x

keywords:

subject

Has Abstract

pub_date

2000-09-01 00:00:00

pages

798-803

issue

9

eissn

0014-2972

issn

1365-2362

pii

eci717

journal_volume

30

pub_type

杂志文章

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