Genetics in Familial Intrahepatic Cholestasis: Clinical Patterns and Development of Liver and Biliary Cancers: A Review of the Literature.
Alagille syndrome
bile acids
cholangiocarcinoma
gallbladder cancer
hepatobiliary cancers
hepatocellular carcinoma
liver transplantation
microbiota
next-generation sequencing
progressive familial intrahepatic cholestasis
Journal
Cancers
ISSN: 2072-6694
Titre abrégé: Cancers (Basel)
Pays: Switzerland
ID NLM: 101526829
Informations de publication
Date de publication:
14 Jul 2022
14 Jul 2022
Historique:
received:
31
05
2022
revised:
10
07
2022
accepted:
12
07
2022
entrez:
27
7
2022
pubmed:
28
7
2022
medline:
28
7
2022
Statut:
epublish
Résumé
The family of inherited intrahepatic cholestasis includes autosomal recessive cholestatic rare diseases of childhood involved in bile acids secretion or bile transport defects. Specific genetic pathways potentially cause many otherwise unexplained cholestasis or hepatobiliary tumours in a healthy liver. Lately, next-generation sequencing and whole-exome sequencing have improved the diagnostic procedures of familial intrahepatic cholestasis (FIC), as well as the discovery of several genes responsible for FIC. Moreover, mutations in these genes, even in the heterozygous status, may be responsible for cryptogenic cholestasis in both young and adults. Mutations in FIC genes can influence serum and hepatic levels of bile acids. Experimental studies on the
Identifiants
pubmed: 35884482
pii: cancers14143421
doi: 10.3390/cancers14143421
pmc: PMC9322180
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
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