ADAMTS5

Overview

ADAMTS5 (A Disintegrin And Metalloproteinase with Thrombospondin Motifs 5) encodes a secreted extracellular matrix proteinase involved in aggrecan degradation and tissue remodelling. In the cancer genomics corpus, ADAMTS5 has been identified as a somatically mutated gene in the axon-guidance pathway in adenoid cystic carcinoma (ACYC), a salivary-gland malignancy characterised by perineural invasion that may be driven in part by disrupted axon-guidance signalling.

Alterations observed in the corpus

• Single-tumour somatic mutation in the axon-guidance pathway identified in adenoid cystic carcinoma (ACYC); the axon-guidance pathway was disrupted in 56% of tumours in the cohort PMID:26862087

Cancer types (linked)

• ACYC (Adenoid Cystic Carcinoma): ADAMTS5 was among a set of axon-guidance genes somatically mutated in ACYC; the same pathway class is disrupted in pancreatic adenocarcinoma, another cancer with prominent perineural invasion PMID:26862087

Co-occurrence and mutual exclusivity

• Co-mutated with other axon-guidance pathway genes (ADAM2, ADAMTS13, PLXNA1, SLIT1, SRGAP2, SRGAP3, SEMA3G) in ACYC PMID:26862087

Therapeutic relevance

• No direct therapeutic targeting established. Axon-guidance pathway inhibition is proposed as a candidate therapeutic strategy in ACYC PMID:26862087

Open questions

• Whether ADAMTS5 somatic mutations are functionally linked to perineural invasion in ACYC requires functional validation PMID:26862087

Sources

• PMID:26862087

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