BCL9L

Overview

BCL9L encodes a WNT signaling co-factor that promotes beta-catenin-mediated transcriptional activation. In colorectal carcinoma, BCL9L is a newly significant driver gene; overexpression promotes intestinal tumor progression in mouse models. Its identification expands the known set of WNT pathway drivers in CRC beyond the canonical APC/CTNNB1 axis.

Alterations observed in the corpus

  • Newly significant CRC driver; WNT co-factor; overexpression promotes intestinal tumor progression in mouse models (Brembeck et al. 2011); identified as significantly mutated in the DFCI CRC cohort (n=619) PMID:27149842

Cancer types (linked)

  • COAD/READ (colorectal carcinoma): Newly significant driver identified in a 619-sample WES cohort; WNT pathway co-factor role PMID:27149842

Co-occurrence and mutual exclusivity

Therapeutic relevance

  • WNT pathway co-factor; potential target for WNT inhibitor strategies in CRC; no approved targeted therapy established for BCL9L specifically.

Open questions

  • Driver vs. passenger status requires further validation; the mechanism by which BCL9L mutations (rather than overexpression) promote CRC remains to be characterised PMID:27149842

Sources

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