CYP7A1

Overview

CYP7A1 (Cytochrome P450 Family 7 Subfamily A Member 1) encodes cholesterol 7-alpha-hydroxylase, the rate-limiting enzyme in bile acid biosynthesis. In cholangiocarcinoma, IDH1/IDH2 gain-of-function mutations suppress CYP7A1 and other bile acid biosynthesis genes through 2-hydroxyglutarate accumulation.

Alterations observed in the corpus

• Expression suppressed by IDH1/IDH2 gain-of-function mutations via 2-hydroxyglutarate (2-HG) accumulation in intrahepatic cholangiocarcinoma; part of the bile acid biosynthesis pathway disruption characteristic of IDH-mutant iCCA PMID:25608663

Cancer types (linked)

• Intrahepatic cholangiocarcinoma (iCCA): CYP7A1 suppressed downstream of IDH1/IDH2 mutation PMID:25608663

Co-occurrence and mutual exclusivity

• Expression inversely correlated with IDH1/IDH2 gain-of-function mutations in iCCA PMID:25608663

Therapeutic relevance

• IDH1 inhibitor ivosidenib (AG-120) was approved based on the ClarIDHy phase III PFS benefit; restoration of IDH1 normal function may relieve CYP7A1 suppression PMID:25608663

Open questions

Sources

• PMID:25608663

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