Cancer Family
Genitourinary System Neoplasm
CI-CAN-00000018Explore in graph →
- NCIt
- C156482
Loading cancer entity…
Cancer Family
CI-CAN-00000018Explore in graph →
Variants & evidence
684 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| ERBB2 S310F3 | ||||||||
| (oncogenic) | Bladder Urothelial Carcinoma | Oncogenic | D | Supports Oncogenicity | 2 | submitted | EID11364Variant found by RNA screening analysis in a UBC (urothelial bladder cancer) cell line (DSH1 and 5637). The variant is located in the Extracellular II domain. RT112 cells infected with lentiviral vec… (full text at CIViC) PMID 24971884 · de Martino et al., 2014 · Open in CIViC | civic |
| Chemotherapy | Bladder Carcinoma | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID11496Variant found in patient's that were diagnosed with muscle-invasive bladder cancer in pretreatment transurethral resection tumor samples (Fig. 1; Patients ID: 9013, CF0943, CF0945, CF1005, CF0955). Th… (full text at CIViC) PMID 25636205 · Groenendijk et al., 2016 · Open in CIViC | civic |
| Lapatinib | Bladder Urothelial Carcinoma | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID11365Variant found by RNA screening analysis in a UBC (urothelial bladder cancer) cell lines (DSH1 and 5637). The variant is located in the Extracellular II domain. In regards to the response to lapatinib… (full text at CIViC) PMID 24971884 · de Martino et al., 2014 · Open in CIViC | civic |
| ERBB2 S310F + ERBB2 T306M1 | ||||||||
| Chemotherapy | Bladder Carcinoma | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID11497Variants were found in a patient that was diagnosed with muscle-invasive bladder cancer in pretreatment transurethral resection tumor samples (Fig. 1; Patients ID: 9013). The patient was categorised a… (full text at CIViC) PMID 25636205 · Groenendijk et al., 2016 · Open in CIViC | civic |
| ERBB2 S653C2 | ||||||||
| (oncogenic) | Bladder Urothelial Carcinoma | Oncogenic | D | Supports Oncogenicity | 2 | submitted | EID11467Variant found by RNA screening analysis in a UBC (urothelial bladder cancer) cell line (VM-CUBI). The variant is located in the transmembrane domain. RT112 cells infected with lentiviral vectors cont… (full text at CIViC) PMID 24971884 · de Martino et al., 2014 · Open in CIViC | civic |
| Lapatinib | Bladder Urothelial Carcinoma | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID11468Variant found by RNA screening analysis in a UBC (urothelial bladder cancer) cell line (VM-CUBI). The variant is located in the transmembrane domain. Regarding the response to lapatinib, after three d… (full text at CIViC) PMID 24971884 · de Martino et al., 2014 · Open in CIViC | civic |
| ERBB2 V777M1 | ||||||||
| Chemotherapy | Bladder Carcinoma | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID11500Variant found in a patient that was diagnosed with muscle-invasive bladder cancer in pretreatment transurethral resection tumor samples (Fig. 1; Patients ID:CF0940). The patient was categorised as a “… (full text at CIViC) PMID 25636205 · Groenendijk et al., 2016 · Open in CIViC | civic |
| ERBB2 V842I1 | ||||||||
| Chemotherapy | Bladder Carcinoma | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID11501Variant found in a patient that was diagnosed with muscle-invasive bladder cancer in pretreatment transurethral resection tumor samples (Fig. 1; Patients ID:CF0977). The patient was categorised as a “… (full text at CIViC) PMID 25636205 · Groenendijk et al., 2016 · Open in CIViC | civic |
| ERCC1 Expression3 | ||||||||
| (prognostic) | Bladder Carcinoma | Prognostic | B | Supports Better Outcome | 2 | accepted | EID810ERCC1 expression as evaluated by IHC in 432 patients was associated with better disease-free survival (HR 0.70, p = 0.028) and cancer specific survival (HR 0.70, p = 0.032) on multivariable analysis. PMID 26162296 · Klatte et al., 2015 · Open in CIViC | civic |
| Cisplatin | Bladder Carcinoma | Predictive | B | Does Not Support Sensitivity Response | 4 | accepted | EID809Immunhistochemistry of ERCC1 expression in 432 patients revealed no correlation to response to cisplatin based chemotherapy. In-vitro studies also did not show any effects. PMID 26162296 · Klatte et al., 2015 · Open in CIViC | civic |
| Cisplatin + Gemcitabine + PaclitaxelCombination | Bladder Carcinoma | Predictive | B | Supports N/A | ||||
| ERCC1 Underexpression1 | ||||||||
| Platinum Compound | Ovarian CarcinomaALIAS | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID10146Ovarian epithelial tumours (n=235) were used to create TMAs and IHC results were scored for ERCC1 (n=114 low, n=121 high). For platinum sensitive patients (n=250 in supplementary table, but not all ha… (full text at CIViC) PMID 30797591 · Mesquita et al., 2019 · Open in CIViC | civic |
| ERCC2 D257N1 | ||||||||
| Chemotherapy | Bladder Carcinoma | Predictive | C | Does Not Support Sensitivity Response | 2 | submitted | EID11506Variant found in a patient that was diagnosed with muscle-invasive bladder cancer in pretreatment transurethral resection tumor samples (Supplementary Table 4; Patients ID: CF0959). The patient was ca… (full text at CIViC) PMID 25636205 · Groenendijk et al., 2016 · Open in CIViC | civic |
| ERCC2 E86Q3 | ||||||||
| (predisposing) | Bladder Urothelial Carcinoma | Predisposing | E | Supports Predisposition | 1 | submitted | EID9746This study assessed the potential for mutated genes associated with urothelial bladder cancers as candidates for platinum-based neoadjuvant therapy. Nineteen patients (18 male, 3 female) diagnosed wit… (full text at CIViC) PMID 32984035 · Hirotsu et al., 2020 · Open in CIViC | civic |
| 〃 | Bladder Urothelial Carcinoma | Predisposing | E | Supports Predisposition | 1 | submitted | EID9747This study assessed the potential for mutated genes associated with urothelial bladder cancers as candidates for platinum-based neoadjuvant therapy. Nineteen patients (18 male, 3 female) diagnosed wit… (full text at CIViC) PMID 32984035 · Hirotsu et al., 2020 · Open in CIViC | civic |
| Chemotherapy | Bladder Carcinoma | Predictive | C | Does Not Support Sensitivity Response | ||||
| ERCC2 N238S1 | ||||||||
| Chemotherapy | Bladder Carcinoma | Predictive | C | Does Not Support Sensitivity Response | 2 | submitted | EID11505Variant found in patients that were diagnosed with muscle-invasive bladder cancer in pretreatment transurethral resection tumor samples (Supplementary Table 4; Patients ID: CF0949, CF0982, CF3098). Th… (full text at CIViC) PMID 25636205 · Groenendijk et al., 2016 · Open in CIViC | civic |
| ERCC2 S44L1 | ||||||||
| Chemotherapy | Bladder Carcinoma | Predictive | C | Does Not Support Sensitivity Response | 2 | submitted | EID11502Variant found in a patient that was diagnosed with muscle-invasive bladder cancer in pretreatment transurethral resection tumor samples (Supplementary Table 4; Patients ID: CF0950). The patient was ca… (full text at CIViC) PMID 25636205 · Groenendijk et al., 2016 · Open in CIViC | civic |
| ERCC2 T484M1 | ||||||||
| Chemotherapy | Bladder Carcinoma | Predictive | C | Does Not Support Sensitivity Response | 2 | submitted | EID11507Variant found in a patient that was diagnosed with muscle-invasive bladder cancer in pretreatment transurethral resection tumor samples (Supplementary Table 4; Patients ID: CF0979). The patient was ca… (full text at CIViC) PMID 25636205 · Groenendijk et al., 2016 · Open in CIViC | civic |
| ERCC2 Y72C1 | ||||||||
| Chemotherapy | Bladder Carcinoma | Predictive | C | Does Not Support Sensitivity Response | 2 | submitted | EID11504Variant found in a patient that was diagnosed with muscle-invasive bladder cancer in pretreatment transurethral resection tumor samples (Supplementary Table 4; Patients ID: CF1005). The patient was ca… (full text at CIViC) PMID 25636205 · Groenendijk et al., 2016 · Open in CIViC | civic |
| NCOA2 Fusion + NCOA3 Fusion + NCOA2 FusionNCOA3NCOA21 | ||||||||
| (diagnostic) | Malignant Uterine NeoplasmALIAS | Diagnostic | C | Supports Positive | 2 | submitted | EID12701In uterine tumors resembling ovarian sex cord tumor (UTROSCT; n = 4), RNA sequencing identified recurrent ESR1::NCOA3 (n = 2), ESR1::NCOA2 (n = 1), and GREB1::NCOA2 (n = 1) fusions, involving NCOA2/3 … (full text at CIViC) PMID 30273195 · Dickson et al., 2019 · Open in CIViC | civic |
| CITED2 Fusion + NCOA3 Fusion + ESR1 Fusion + NCOA2 Fusion + GREB1 FusionNCOA3NCOA2CITED2ESR1GREB11 | ||||||||
| (prognostic) | Malignant Uterine NeoplasmALIAS | Prognostic | C | Supports Poor Outcome | 1 | submitted | EID12707In a retrospective UTROSCT cohort (n = 17, follow-up n = 13), 3 patients (23.1%) carrying GREB1::NCOA2, ESR1::NCOA3 or ESR1::CITED2 fusions developed pelvic, abdominal or pulmonary recurrence, with re… (full text at CIViC) PMID 38000680 · Qijun et al., 2024 · Open in CIViC | civic |
| ESR2 beta-2 and beta-51 | ||||||||
| (prognostic) | Malignant Prostate Neoplasm | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID9617In a clinical study including 144 patients, nuclear beta-2 expression is significantly correlated with decreased RFS (p < 0.01), decreased MFS (p < 0.01) and PSA failure (p < 0.01). Moreover cytoplasm… (full text at CIViC) PMID 20501637 · Leung et al., 2010 · Open in CIViC | civic |
| ETV4 Overexpression1 | ||||||||
| (prognostic) | Malignant Prostate Neoplasm | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID1658Immunohistochemical methods were used to evaluate the expression levels of ETV4 in prostate cancer (PCa) tumor samples. Increased expression of ETV4 was associated with greater Gleason score (P = 0.04… (full text at CIViC) PMID 25544710 · Qi et al., 2015 · Open in CIViC | civic |
| ETV6 ~DEPRECATED-ETV6::NTRK3 FUSION1 | ||||||||
| (diagnostic) | Congenital Mesoblastic Nephroma | Diagnostic | C | Supports Positive | 2 | rejected | EID10417EML6::NTRK3 fusion is seen in cases of Infantile fibrosarcoma and congenital mesoblastic nephroma. In general, these types of tumors more commonly harbor ETV6::NTRK3 fusions. PMID 29099503 · Church et al., 2018 · Open in CIViC | civic |
| NTRK3 Fusion6 | ||||||||
| (diagnostic) | Congenital Mesoblastic Nephroma | Diagnostic | B | Supports Positive | 3 | accepted | EID10841A frequent genetic alteration in congenital mesoblastic nephroma is the translocation t(12;15) resulting in a fusion of the ETV6 gene on 12p13 and the NTRK3 gene on 15p15 that occurs almost exclusivel… (full text at CIViC) PMID 29286563 · Vokuhl et al., 2018 · Open in CIViC | civic |
| (prognostic) | Congenital Mesoblastic Nephroma | Prognostic | B | Supports Better Outcome | 3 | submitted | EID10842In a group of 111 mesoblastic nephroma (MN) samples, 79 were were evaluable by FISH, which consisted of 38 classical MN, 29 cellular MN, and 12 mixed MN samples. 5 year relapse free survival (RFS) was… (full text at CIViC) PMID 29286563 · Vokuhl et al., 2018 · Open in CIViC | civic |
| (diagnostic) | Congenital Mesoblastic Nephroma | Diagnostic | B | Supports Positive | 3 | |||
| FANCA S1088F1 | ||||||||
| Cisplatin | Malignant Prostate Neoplasm | Predictive | C | Supports Sensitivity Response | 4 | submitted | EID5813A patient with prostate cancer with exceptional response to treatment was identified who harbored a somatic hemizygous deletion of the DNA repair gene FANCA and putative partial loss of function of th… (full text at CIViC) PMID 26181256 · Beltran et al., 2015 · Open in CIViC | civic |
| FANCL Mutation1 | ||||||||
| Olaparib | Castration-Resistant Prostate Carcinoma | Predictive | A | Supports Sensitivity Response | 1 | submitted | EID11211This randomized, open-label, phase 3 trial evaluated the PARP inhibitor olaparib in 387 men with metastatic castration-resistant prostate cancer (mCRPC) who had disease progression while receiving a n… (full text at CIViC) PMID 32343890 · de Bono et al., 2020 · Open in CIViC | civic |
| FBXW7 Loss-of-function1 | ||||||||
| Everolimus | Renal Cell CarcinomaCURATED_BROADER | Predictive | E | Supports Sensitivity Response | 2 | accepted | EID1628mTOR protein levels were found to underly a circadian 24-hour rhythm regulated by time-dependent Fbxw7-mediated ubiquitination. Survival rates of tumor-bearing mice with everolimus showed time-depende… (full text at CIViC) PMID 24253377 · Okazaki et al., 2014 · Open in CIViC | civic |
| FGF13 CYTOPLASMIC EXPRESSION1 | ||||||||
| (prognostic) | Malignant Prostate Neoplasm | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID1062243 primary PCa, 37 metastatic PCa, and 20 castration-resistant PCa (CRPC) specimens underwent IHC and microarray analysis. Immunohistochemistry (IHC) showed that FGF13 was detectable in the major… (full text at CIViC) PMID 26891277 · Yu et al., 2016 · Open in CIViC | civic |
| FGF19 Overexpression1 | ||||||||
| (prognostic) | Malignant Ovarian Neoplasm | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID7523In a retrospective study, the association between biomarker and prognosis in patients with advanced ovarian cancer were evaluated. High expression FGFR4 or FGF19 were associated with poor overall surv… (full text at CIViC) PMID 26323668 · Hu et al., 2015 · Open in CIViC | civic |
| FGFR1 Amplification1 | ||||||||
| Infigratinib | Bladder Carcinoma | Predictive | C | Does Not Support Sensitivity Response | 2 | accepted | EID1911Phase 1 study of FGFR-inhibitor BGJ398 in advanced cancer with FGFR-aberrations. Of the eight patients with FGFR3-mutated bladder/urothelial cancer, one patient with FGFR1 amplification was treated wi… (full text at CIViC) PMID 27870574 · Nogova et al., 2017 · Open in CIViC | civic |
| FGFR1 Expression2 | ||||||||
| Unspecified therapy | Bladder Carcinoma | Predictive | D | Supports Sensitivity Response | 2 | rejected | EID802FGFR1 expression was increased in urothelial carcinoma cell lines and patient tumours, independent of stage and grade. FGFR1 knockdown resulted in decreases proliferation and survival in some of the c… (full text at CIViC) PMID 19458078 · Tomlinson et al., 2009 · Open in CIViC | civic |
| Dovitinib + PD173074Substitutes | Bladder Carcinoma | Predictive | D | Supports Sensitivity Response | 2 | accepted | EID801One urothelial cell line (JMSU1) with high expression of FGFR1 was sensitive to treatment with FGFR inhibitors (SU5402, TKI258 or PD173074). IC50 values for PD173074 and TKI-258 (Dovitinib) were in n… (full text at CIViC) PMID 21119661 · Lamont et al., 2011 · Open in CIViC | civic |
| FGFR1 M563T1 | ||||||||
| Futibatinib | Urothelial Carcinoma | Predictive | C | Supports Sensitivity Response | 1 | submitted | EID11636In a phase 1 multihistology trial of the FGFR1/2/3/4 inhibitor futibatinib, an objective response rate of 13.7% was seen with responses in a broad spectrum of tumors and across a broad spectrum of FGF… (full text at CIViC) PMID 34551969 · Meric-Bernstam et al., 2022 · Open in CIViC | civic |
| FGFR1 Overexpression1 | ||||||||
| (prognostic) | Bladder Urothelial Carcinoma | Prognostic | D | Supports Poor Outcome | 4 | submitted | EID9582Two types of UC cell lines were compared in this study. T24 and J82 which are mesenchymal subtype and overexpress FGFR1, and RT-4 and UMUC-14, epithelial subtype which do not express FGFR1. T24 and J8… (full text at CIViC) PMID 30326563 · Kim et al., 2018 · Open in CIViC | civic |
| BICC1 Fusion1 | ||||||||
| Erdafitinib | Malignant Endometrial NeoplasmCURATED_BROADER | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID1920Phase 1 study of pan-FGFR inhibitor JNJ-42756493 in patients with solid tumors. No responses were seen 36 patients without FGFR pathway aberrations. Among 23 patients with FGFR pathway aberrations, 4 … (full text at CIViC) PMID 26324363 · Tabernero et al., 2015 · Open in CIViC | civic |
| FGFR2 Fusion1 | ||||||||
| Erdafitinib | Bladder Urothelial Carcinoma | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID10404Phase I dose-escalation cohort of patients with advanced solid tumors in which antineoplastic therapy (NCT01703481) was no longer effective using pan-FGFR inhibitor JNJ-42756493. Among 2 urothelial ca… (full text at CIViC) PMID 31088831 · Bahleda et al., 2019 · Open in CIViC | civic |
| FGFR2 Mutation3 | ||||||||
| (prognostic) | Malignant Endometrial NeoplasmCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 2 | submitted | EID6444patients with FGFR2 mutations had a much higher incidence of progression (32/125, 26%) whereas among those with wild type where only (120/848,14%) displayed incidences of progression. The mutated FGFR… (full text at CIViC) PMID 28314589 · Jeske et al., 2017 · Open in CIViC | civic |
| Dovitinib + FulvestrantCombination | Malignant Endometrial NeoplasmCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID6457Treatment of cell lines harboring FGFR2 mutations with dovitinib 0.5 mmol/L for 72 hours resulted in a significant decrease in cell viability of AN3CA (37.80%) and MFE-296 (53.14%). Conversely, in cel… (full text at CIViC) PMID 24448819 · Eritja et al., 2014 · Open in CIViC | civic |
| Ponatinib | ||||||||
| FGFR2 N550K1 | ||||||||
| PD173074 | Malignant Endometrial NeoplasmCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID1322The endometrial cancer cell lines, AN3CA and MFE296, which carry the N550K FGFR2 mutation, were found to be sensitive to FGFR inhibition with PD174074 (10 to 40x more sensitive than cell lines with wi… (full text at CIViC) PMID 18757403 · Byron et al., 2008 · Open in CIViC | civic |
| FGFR2 Overexpression1 | ||||||||
| (prognostic) | Papillary Renal Cell Carcinoma | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID6454Only 12/118(10.2%) of patients with type I papillary renal cell carcinoma expressed FGFR2 whereas 37/96 (38.5%) patients with type II papillary renal cell carcinoma(P=0.001). In addition, FGFR2 expre… (full text at CIViC) PMID 27379982 · Tsimafeyeu et al., 2017 · Open in CIViC | civic |
| FGFR2 Fusion1 | ||||||||
| Erdafitinib | Bladder Carcinoma | Predictive | A | Supports Sensitivity Response | 4 | submitted | EID11257In this open-label, phase II trial, 99 patients with locally advanced and unresectable or metastatic urothelial carcinoma with various FGFR alterations who had a history of disease progression during … (full text at CIViC) PMID 31340094 · Loriot et al., 2019 · Open in CIViC | civic |
| BAIAP2L1 Fusion1 | ||||||||
| PD173074 | Bladder Carcinoma | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID144Following identification of this fusion in a patient, this fusion was expressed in HEK 293T cells leading to oligomerization in the absence of ligand, induced morphologic changes in the cell and incre… (full text at CIViC) PMID 23558953 · Wu et al., 2013 · Open in CIViC | civic |
Data updated 4 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.
| 3 |
| submitted |
EID6438With a cut-off of seven, 37 patients were classified as having low ERCC1 expression and 20 as having high ERCC1 expression. OS was significantly longer for patients with low ERCC1 levels (25.47 months… (full text at CIViC) PMID 17229776 · Bellmunt et al., 2007 · Open in CIViC |
| civic |
| 2 |
| submitted |
EID11503Variant found in a patient that was diagnosed with muscle-invasive bladder cancer in pretreatment transurethral resection tumor samples (Supplementary Table 4; Patients ID: CF1000). The patient was ca… (full text at CIViC) PMID 25636205 · Groenendijk et al., 2016 · Open in CIViC |
| civic |
| accepted |
EID11279In an analysis of 19 cases of mesoblastic nephroma, the ETV6::NTRK3 fusion was detected in 0 of 5 of the classic mesoblastic nephroma, 8 of 8 (100%) of the cellular mesoblastic nephroma and 5 of 6 (83… (full text at CIViC) PMID 27020209 · El Demellawy et al., 2016 · Open in CIViC |
| civic |
| 〃 | Congenital Mesoblastic Nephroma | Diagnostic | B | Supports Positive | 2 | accepted | EID11280In an analysis of 22 cases of mesoblastic nephroma, 4 of 5 (80%) cellular mesoblastic nephromas harbored ETV6::NTRK3, 1 of 5 cellular mesoblastic nephromas harbored a KLHL7::BRAF fusion, 12 of 12 (100… (full text at CIViC) PMID 32590884 · Zhao et al., 2020 · Open in CIViC | civic |
| 〃 | Anaplastic Sarcoma of the Kidney | Diagnostic | C | Does Not Support Negative | 1 | submitted | EID10421In 4 cases of Anaplastic sarcoma of the kidney ETV6::NTRK3 fusion was negative. PMID 17895746 · Vujanić et al., 2007 · Open in CIViC | civic |
| Larotrectinib | Congenital Mesoblastic Nephroma | Predictive | C | Supports Sensitivity Response | 4 | accepted | EID10840A 23 month old (at the time of report) male was diagnosed prenatally with Stage II cellular mesoblastic nephroma (MN) on the right kidney, which was surgically removed on the sixth day of life. ETV6::… (full text at CIViC) PMID 29893456 · Halalsheh et al., 2018 · Open in CIViC | civic |
| Malignant Endometrial NeoplasmCURATED_BROADER |
| Predictive |
| D |
| Supports Sensitivity Response |
| 3 |
| accepted |
EID1236Preclinical study in endometrial cancer cell lines (MFE-296, AN3CA, MFE-280 and Ishikawa). In cell proliferation assays, the three FGFR2 mutant cell lines were more sensitive to the pan-FGFR inhibitor… (full text at CIViC) PMID 26574622 · Kim et al., 2016 · Open in CIViC |
| civic |