Mutations of the HFE gene in patients with hepatocellular carcinoma.
Am J Gastroenterol
; 98(2): 442-7, 2003 Feb.
Article
em En
| MEDLINE
| ID: mdl-12591066
ABSTRACT
OBJECTIVE:
Hepatocellular carcinoma (HCC) is a late consequence of severe liver disease. Patients with genetic hemochromatosis may be at risk for HCC, but limited information is available on the relationship of HCC and heterozygosity for the HFE gene mutations.METHODS:
HFE mutations (C282Y and H63D) were assessed in 162 consecutive patients (131 men/31 women) with HCC. A total of 159 patients had cirrhosis. The most common etiologies of cirrhosis were chronic viral hepatitis (hepatitis C 39%, hepatitis B 9%) and alcoholic liver disease (36%).RESULTS:
Five patients were C282Y homozygotes, four C282Y/H63D compound heterozygotes, and three H63D homozygotes. The C282Y and H63D allele frequencies in HCC were 8.3 (95% confidence limit = 5.3-11.3) and 11.1 (7.8-14.6), respectively, and not different from previously published data in healthy subjects or patients with chronic hepatitis C in Austria. Furthermore, there was no difference in the age at diagnosis in patients with or without HFE gene mutations. C282Y homozygotes had a 19-fold increased risk to develop HCC. In contrast, all other HFE allele constellations were not associated with such a risk.CONCLUSIONS:
Except for C282Y homozygotes, HFE gene mutations do not increase the risk to develop HCC in patients with cirrhosis.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Antígenos de Histocompatibilidade Classe I
/
Carcinoma Hepatocelular
/
Mutação de Sentido Incorreto
/
Hemocromatose
/
Neoplasias Hepáticas
/
Proteínas de Membrana
Limite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Am J Gastroenterol
Ano de publicação:
2003
Tipo de documento:
Article
País de afiliação:
Áustria