ADAMTS13

Overview

ADAMTS13 (A Disintegrin And Metalloproteinase with Thrombospondin Motifs 13) encodes a von Willebrand factor-cleaving metalloprotease best known for its role in thrombotic thrombocytopenic purpura. In the cancer genomics corpus, ADAMTS13 has been identified as a somatically mutated gene in the axon-guidance pathway in adenoid cystic carcinoma (ACYC), contributing to the hypothesis that disruption of extracellular matrix and axon-guidance signalling underpins the perineural invasion phenotype of this cancer.

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): ADAMTS13 was among a set of axon-guidance genes somatically mutated in ACYC PMID:26862087

Co-occurrence and mutual exclusivity

• Co-mutated with other axon-guidance pathway genes (ADAM2, ADAMTS5, 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

• The functional significance of ADAMTS13 mutation in ACYC perineural invasion is not established and requires further investigation PMID:26862087

Sources

• PMID:26862087

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