EPHA6

Overview

EPHA6 (Ephrin Type-A Receptor 6) is a receptor tyrosine kinase of the EPH family. It has been proposed as an African American-specific colorectal cancer driver gene, with somatic mutations enriched in AA CRCs compared to Caucasian CRCs, and a mutation pattern consistent with tumor-suppressor activity.

Alterations observed in the corpus

  • 6 somatic mutations in AA CRCs (one splice-site plus four missense predicted to significantly alter function); mutated in 5.83% AA vs. 0% Caucasian CRCs (P=0.007); pattern consistent with tumor-suppressor activity; proposed as an AA-specific CRC driver PMID:25583493

Cancer types (linked)

  • CRC: Enriched in African American colorectal cancers; mutated in 5.83% AA vs. 0% Caucasian; ethnicity-associated EPH family selection PMID:25583493

Co-occurrence and mutual exclusivity

  • Related EPH family members EPHA3 and EPHB6 were identified as significantly mutated in a prior nearly all-Caucasian MSS CRC cohort, suggesting ethnicity-associated selection of different EPH family members PMID:25583493

Therapeutic relevance

  • Drugs (linked) targeting this gene or its pathway, with the studies supporting them.

Open questions

  • Functional consequences of EPHA6 mutations in AA CRCs were not experimentally tested PMID:25583493

Sources

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