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DNAJB1
Variants
VariantGeneTypeCOSMIC IDDNA Change (Coding Nucleotide)Exon
DNAJB1-PRKACA rearrangementDNAJB1rearrangement

Interpretations

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Tier 1
DNAJB1
Variants
DNAJB1-PRKACA rearrangement
Primary Sites
Liver
Tumor Types
Hepatocellular Carcinoma
Interpretation

The DNAJB1-PRKACA fusion transcript is detected in 80 to 100% of fibrolamellar hepatocellular carcinomas. Detection of DNAJB1-PRKACA is thought to be a very sensitive and specific finding in support of the diagnosis of fibrolamellar carcinoma, and may contribute to tumor pathogenesis. The therapeutic targetability of this alteration remains to be elucidated.

Last updated: 2016-02-12 21:25:57 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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