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Variants & evidence
8 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.
| Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|
| CTNNB1 Exon 3 Deletion1 | |||||||
| (diagnostic) | Diagnostic | B | Supports Positive | 2 | submitted | EID9662Characterization of hepatoblastoma (HB) with whole-exome sequencing identified recurrent CTNNB1 mutations in 12 of 15 tumors. All 12 impacted exon 3, including 4 missense mutations at position G34 (G3… (full text at CIViC) PMID 25135868 · Eichenmüller et al., 2014 · Open in CIViC | civic |
| CTNNB1 Exon 3 Mutation2 | |||||||
| (diagnostic) | Diagnostic | B | Supports Positive | 3 | submitted | EID7922The authors analyzed 52 hepatoblastoma (HB) biopsies and three HB cell lines from sporadic HBs and found 48% of them bearing mutations on beta-catenin exon 3, which encodes the degradation targeting… (full text at CIViC) PMID 9927029 · Koch et al., 1999 · Open in CIViC | civic |
| 〃 | Diagnostic | B | Supports Positive | 2 | submitted | EID9663Characterization of hepatoblastoma (HB) with whole-exome sequencing identified recurrent CTNNB1 mutations in 12 of 15 tumors. All 12 impacted exon 3, including 4 missense mutations at position G34 (G3… (full text at CIViC) PMID 25135868 · Eichenmüller et al., 2014 · Open in CIViC | civic |
| CTNNB1 G34E1 | |||||||
| (diagnostic) | Diagnostic | B | Supports Positive | 1 | submitted | EID9665Characterization of hepatoblastoma (HB) with whole-exome sequencing identified recurrent CTNNB1 mutations in 12 of 15 tumors. All 12 impacted exon 3, including 4 missense mutations at position G34 (G3… (full text at CIViC) PMID 25135868 · Eichenmüller et al., 2014 · Open in CIViC | civic |
| CTNNB1 G34V2 | |||||||
| (diagnostic) | Diagnostic | B | Supports Positive | 2 | submitted | EID9664Characterization of hepatoblastoma (HB) with whole-exome sequencing identified recurrent CTNNB1 mutations in 12 of 15 tumors. All 12 impacted exon 3, including 4 missense mutations at position G34 (G3… (full text at CIViC) PMID 25135868 · Eichenmüller et al., 2014 · Open in CIViC | civic |
| 〃 | Diagnostic | E | Supports Positive | 2 | submitted | EID6973Five mutations resulted in amino acid substitutions in codons 32 and 34, suggesting an influence on the accessibility of the serine 33 for the GSK-3β kinase, preventing its phosphorylation (Fig. 2a) PMID 9927029 · Koch et al., 1999 · Open in CIViC | civic |
| CTNNB1 S37C1 | |||||||
| Unspecified therapy | Predictive | E | Supports Sensitivity Response | 3 | submitted | EID6089The evidence from the literature describes the association of CTNNB1 mutation to Hepatoblastoma (HB) via detecting CTNNB1 mutation in HB cell lines through molecular techniques. In conclusion, 78% (21… (full text at CIViC) PMID 12101426 · Taniguchi et al., 2002 · Open in CIViC | civic |
| CTNNB1 T41A1 | |||||||
| Unspecified therapy | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID6078Of 39 hepatoblastoma samples, 10 tumor samples had point mutations in exon 3 of beta-catenin gene. One mutation changes threonine at position 41 to alanine (T41A). PMID 16937357 · Sugawara et al., 2007 · Open in CIViC | civic |
Data updated 23 hours agoSource updated unknownsource: civic (CC0)
Evidence levels, directions and ratings are those assigned by CIViC curators. "Submitted" items have not completed curation review. This is not treatment guidance.