Publication
Systematic Functional Annotation of Somatic Mutations in Cancer.
Authors not recorded
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
Abstract (excerpt)
Only the opening of the abstract is shown; abstract text may carry publisher copyright.
Data not yet available
Linked entities
Linked entities (14)
How each link was made (MeSH, dictionary, registry reference, curation…) and whether it has been validated. Candidate links are not counted in entity statistics.
Validated 14
- cancerMalignant Neoplasmcivic_curation1.00
- geneEGFRcivic_curation1.00
- geneFGFR3civic_curation1.00
- genePIK3CAcivic_curation1.00
- variantEGFR E114Kcivic_curation1.00
- variantEGFR R222Ccivic_curation1.00
- variantEGFR R252Ccivic_curation1.00
- variantFGFR3 H274Ycivic_curation1.00
- variantFGFR3 R805Qcivic_curation1.00
- variantFGFR3 S187Ycivic_curation1.00
- variantPIK3CA C604Rcivic_curation1.00
- variantPIK3CA D350Ncivic_curation1.00
- variantPIK3CA G1007Rcivic_curation1.00
- variantPIK3CA N1044Kcivic_curation1.00
Curated evidence
Evidence citing this paper (11)
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 29533785
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| FGFR3 H274Y1 | ||||||||
| (oncogenic) | Malignant NeoplasmALIAS | Oncogenic | D | Does Not Support Oncogenicity | 3 | accepted | EID13186In a moderate-throughput functional genomic screen, FGFR3 p.H274Y demonstrated cell proliferation and viability comparable to wild-type FGFR3 in growth factor-dependent Ba/F3 and/or MCF10A cellular as… (full text at CIViC) PMID 29533785 · Ng et al., 2018 · Open in CIViC | civic |
| FGFR3 R805Q1 | ||||||||
| (oncogenic) | Malignant NeoplasmALIAS | Oncogenic | D | Does Not Support Oncogenicity | 4 | accepted | EID12968Introduction of FGFR3 carrying the p.Arg805Gln (R805Q) variant did not alter growth-factor independent proliferation in either of two cell lines (murine Ba/F3, human MCF10A) compared to introduction o… (full text at CIViC) PMID 29533785 · Ng et al., 2018 · Open in CIViC | civic |
| FGFR3 S187Y1 | ||||||||
| (oncogenic) | Malignant NeoplasmALIAS | Oncogenic | D | Does Not Support Oncogenicity | 2 | accepted | EID13028In a moderate-throughput functional genomic screen, FGFR3 p.S187Y demonstrated cell proliferation and viability comparable to wild-type FGFR3 in growth factor-dependent Ba/F3 and/or MCF10A cellular as… (full text at CIViC) PMID 29533785 · Ng et al., 2018 · Open in CIViC | civic |
| EGFR E114K1 | ||||||||
| (functional) | —UNRESOLVED | Functional | D | Supports Unaltered Function | 2 | accepted | EID9584A functional screen of somatic mutations found in large-scale cancer data sets classified EGFR E114K as neutral, based on growth-factor independent growth in Ba/F3 and MCF10A cells, and consensus amon… (full text at CIViC) PMID 29533785 · Ng et al., 2018 · Open in CIViC | civic |
| EGFR R222C1 | ||||||||
| (functional) | —UNRESOLVED | Functional | D | Supports Gain Of Function | 2 | accepted | EID9333A moderate throughput platform was used to functionally characterize 1000 somatic cancer variants. The platform found EGFR R222C to be an activating mutation based on in vitro screening in two growth-… (full text at CIViC) PMID 29533785 · Ng et al., 2018 · Open in CIViC | civic |
| EGFR R252C1 | ||||||||
| (functional) | —UNRESOLVED | Functional | D | Supports Unaltered Function | 1 | accepted | EID10278A moderate throughput platform was used to functionally characterize 1000 somatic cancer variants. The platform found EGFR R252C to be a neutral mutation based on in vitro screening in two growth-fact… (full text at CIViC) PMID 29533785 · Ng et al., 2018 · Open in CIViC | civic |
| PIK3CA C604R1 | ||||||||
| (functional) | —UNRESOLVED | Functional | D | Supports Gain Of Function | 2 | accepted | EID9325A functional screen of mutations found in large-scale cancer data sets identified PIK3CA C604R as an activating mutation, as measured by growth-factor independent growth in Ba/F3 and MCF10A cells. PMID 29533785 · Ng et al., 2018 · Open in CIViC | civic |
| PIK3CA D350N1 | ||||||||
| (functional) | —UNRESOLVED | Functional | D | Supports Gain Of Function | 2 | accepted | EID9326A functional screen of mutations found in large-scale cancer data sets identified PIK3CA D350N as an activating mutation, as measured by growth-factor independent growth in Ba/F3 and MCF10A cells. PMID 29533785 · Ng et al., 2018 · Open in CIViC | civic |
| PIK3CA E39K1 | ||||||||
| (functional) | —UNRESOLVED | Functional | D | Supports Gain Of Function | 2 | submitted | EID9324A functional screen of mutations found in large-scale cancer data sets identified PIK3CA E39K as an activating mutation, as measured by growth-factor independent growth in Ba/F3 and MCF10A cells. PMID 29533785 · Ng et al., 2018 · Open in CIViC | civic |
| PIK3CA G1007R1 | ||||||||
| (functional) | —UNRESOLVED | Functional | D | Supports Gain Of Function | 2 | accepted | EID9543A functional screen of mutations found in large-scale cancer data sets identified PIK3CA G1007R as an activating mutation, as measured by growth-factor independent growth in Ba/F3 and MCF10A cells. PMID 29533785 · Ng et al., 2018 · Open in CIViC | civic |
| PIK3CA N1044K1 | ||||||||
| (functional) | —UNRESOLVED | Functional | D | Supports Gain Of Function | 2 | accepted | EID9551A functional screen of mutations found in large-scale cancer data sets identified PIK3CA N1044K as an activating mutation, as measured by growth-factor independent growth in Ba/F3 cells. PMID 29533785 · Ng et al., 2018 · Open in CIViC | civic |