DICER1
Overview
DICER1 encodes the endoribonuclease essential for miRNA biogenesis; rare somatic and germline mutations generate distinct cancer predispositions and hotspot-driven oncogenic events.
Alterations observed in the corpus
- Nominated as a novel CLL driver via 3-D clustering with CLUMPS in the 1,148-patient integrated CLL map PMID:35927489.
- Also disrupted by the recurrent ~37-Mb chromosome 14 deletion observed in U-CLL (4/87 WGS, 4.6%), which arises via class-switch recombination and simultaneously disrupts ZFP36L1 and TRAF3 PMID:35927489.
- DICER1 somatic mutations identified in HNSCC by whole-exome sequencing of 74 tumor-normal pairs (Broad Institute cohort) PMID:21798893
- Somatic E1813G identified in pleuropulmonary blastoma (PPB) as health-maintenance flag for DICER1 syndrome; germline frameshift L1603Pfs in pineoblastoma flagged for Sertoli-Leydig tumor surveillance; VUS D609Y returned to a family of a patient with anaplastic large cell lymphoma (ALCL) PMID:28007021.
Cancer types (linked)
- CLL — DICER1 is a novel CLUMPS-nominated driver with both point-mutation and structural-variant modes in the U-CLL subtype PMID:35927489.
Co-occurrence and mutual exclusivity
- DICER1 is co-disrupted with ZFP36L1 and TRAF3 by the recurrent U-CLL chr14 class-switch-recombination deletion PMID:35927489.
Therapeutic relevance
- No DICER1-directed therapy is reported in the corpus PMID:35927489.
Open questions
- Functional validation of DICER1 as a CLL driver, one of the 109 novel drivers in the CLL map, is deferred to future work PMID:35927489.
Sources
This page was processed by crosslinker on 2026-04-08. - PMID:21798893
This page was processed by wiki-cli on 2026-05-06. - PMID:28007021
This page was processed by wiki-cli on 2026-05-14.