JARID2

Overview

JARID2 (Jumonji and AT-rich interaction domain containing 2) encodes a transcriptional repressor and component of the Polycomb Repressive Complex 2 (PRC2). In esophageal adenocarcinoma (EAC), JARID2 is recurrently mutated as part of a broader pattern of SWI/SNF and chromatin-remodeling gene alterations that collectively affect approximately 24% of EACs.

Alterations observed in the corpus

• Recurrently mutated in EAC as part of SWI/SNF and broader chromatin-remodeling pathway alterations, which collectively affect 24% of EACs; grouped with ARID1A, ARID2, SMARCA4, and PBRM1 PMID:23525077

Cancer types (linked)

• EAC (Esophageal Adenocarcinoma): mutation identified in WGS/WES cohort of 145 tumors; chromatin-remodeling pathway altered in 24% of EACs PMID:23525077

Co-occurrence and mutual exclusivity

• Co-mutated with ARID1A, ARID2, SMARCA4, and PBRM1 in the SWI/SNF/chromatin-remodeling gene category in EAC; SMARCA4 is also part of a putative SMARCA4-DNM2 fusion PMID:23525077

Therapeutic relevance

• No approved targeted agents; SWI/SNF pathway alterations in EAC represent a potentially targetable vulnerability PMID:23525077

Open questions

• The relative contribution of individual chromatin-remodeling gene mutations (JARID2 vs. ARID1A, SMARCA4, etc.) to EAC pathogenesis is not individually quantified in this study PMID:23525077

Sources

• PMID:23525077

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