ECT2

Overview

ECT2 (Epithelial Cell Transforming 2) is a guanine nucleotide exchange factor (GEF) for RHO-family GTPases, activating RAC1 and other Rho GTPases to regulate actin cytoskeleton dynamics and cell migration. In cancer genomics, ECT2 is notable as one of several upstream regulators of the RAC1 pathway that are recurrently mutated in esophageal adenocarcinoma (EAC), linking cytoskeletal signaling disruption to EAC invasion.

Alterations observed in the corpus

  • Recurrently mutated in esophageal adenocarcinoma (EAC) as part of a broader cluster of RAC1 GEF pathway upstream regulators (including ELMO1, DOCK2, TRIO, TIAM1, VAV2) that are altered in EAC, with downstream effector PAK1 recurrently amplified at 11q13 PMID:23525077

Cancer types (linked)

  • EAC: Recurrently mutated upstream regulator of the RAC1 pathway in esophageal adenocarcinoma PMID:23525077

Co-occurrence and mutual exclusivity

  • Co-altered with ELMO1, DOCK2, TRIO, TIAM1, and VAV2 as RAC1 GEF pathway upstream regulators in EAC; RAC1 downstream effector PAK1 is recurrently amplified at 11q13 PMID:23525077

Therapeutic relevance

  • No direct therapeutic targeting reported in the corpus; pathway context (RAC1/PAK1) may offer indirect drug targets.

Open questions

  • Whether ECT2 mutations in EAC are functionally equivalent to ELMO1 mutations in promoting invasion remains untested.

Sources

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