ARHGEF18

Overview

ARHGEF18 (Rho Guanine Nucleotide Exchange Factor 18) encodes a GEF that activates RhoA at tight junctions and regulates epithelial cell polarity. In the cancer genomics corpus, ARHGEF18 has been identified as somatically mutated in adenoid cystic carcinoma (ACYC) as part of a broader Rho-pathway disruption that includes recurrent RHOA mutations — the first reported in ACYC.

Alterations observed in the corpus

• Somatic Rho-GEF mutation identified in adenoid cystic carcinoma (ACYC), part of a broader Rho-pathway disruption alongside RHOA mutations present in 2 tumours PMID:26862087

Cancer types (linked)

• ACYC (Adenoid Cystic Carcinoma): ARHGEF18 was among multiple Rho-pathway genes somatically mutated in a 25-tumour WGS cohort; Rho pathway targeting is proposed as a candidate therapeutic strategy in ACYC PMID:26862087

Co-occurrence and mutual exclusivity

• Co-mutated with other Rho-pathway genes (ARHGEF3, ARHGEF5, RHOA, CDH2, CDH13, ACTB) in ACYC PMID:26862087

Therapeutic relevance

• Rho-pathway inhibition flagged as a candidate therapeutic strategy for ACYC PMID:26862087

Open questions

• Functional consequence of ARHGEF18 mutation in ACYC not characterised; therapeutic implications are speculative PMID:26862087

Sources

• PMID:26862087

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