ARHGEF5

Overview

ARHGEF5 (Rho Guanine Nucleotide Exchange Factor 5) encodes a Dbl-family GEF that activates RhoA and Rac1. In the cancer genomics corpus, ARHGEF5 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): ARHGEF5 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, ARHGEF18, 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 ARHGEF5 mutation in ACYC not characterised; therapeutic implications are speculative PMID:26862087

Sources

• PMID:26862087

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