ACVR1C

Overview

ACVR1C (Activin A Receptor Type 1C; also known as ALK7) encodes a type I serine/threonine kinase receptor in the TGF-β superfamily. It transduces activin/nodal signals through SMAD2/3 phosphorylation. In cancer genomics, ACVR1C emerges as a recurrently mutated TGF-β-axis component in pancreatic ductal adenocarcinoma, augmenting the pathway disruption driven by SMAD4 loss.

Alterations observed in the corpus

TGF-β-axis alteration in pancreatic ductal adenocarcinoma (PDA), co-occurring with SMAD4 loss and augmenting TGF-β pathway disruption PMID:25855536

Cancer types (linked)

PAAD — recurrently mutated TGF-β receptor component alongside TGFBR1, TGFBR2, ACVR1B, SMAD3, and SMAD6 PMID:25855536

Co-occurrence and mutual exclusivity

Co-occurs with SMAD4 loss and other TGF-β pathway lesions (TGFBR1, TGFBR2, ACVR1B, SMAD3, SMAD6) in PDA PMID:25855536

Therapeutic relevance

TGF-β pathway alterations including ACVR1C nominate pathway inhibitors as potential therapeutic candidates in PDA PMID:25855536

Open questions

Functional impact of individual ACVR1C mutations in PDA remains to be validated.

Sources

PMID:25855536

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