Cancer Family
Genitourinary System Neoplasm
CI-CAN-00000018Explore in graph →
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- C156482
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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 |
|---|---|---|---|---|---|---|---|---|
| DICER1 E1705K2 | ||||||||
| (predisposing) | Ovarian Sertoli-Leydig Cell TumorALIAS | Predisposing | B | Supports Predisposition | 3 | submitted | EID5885DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There were five mutations in E1705… (full text at CIViC) PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC | civic |
| (diagnostic) | Ovarian GynandroblastomaALIAS | Diagnostic | C | Supports Positive | 2 | accepted | EID11480In an analysis of a range of different ovarian sex cord-stromal tumors, 2 of 5 gynandroblastomas were found to have the DICER1 E1705K hotspot mutation supporting a role for DICER1 in a subset of these… (full text at CIViC) PMID 26428316 · Conlon et al., 2015 · Open in CIViC | civic |
| DICER1 E1813G1 | ||||||||
| (oncogenic) | Ovarian Sertoli-Leydig Cell TumorALIAS | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID5893DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There was one mutation in E1813G. PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC | civic |
| DICER1 E1813K1 | ||||||||
| (oncogenic) | Ovarian Sertoli-Leydig Cell TumorALIAS | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID5894DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There was one mutation in E1813K. PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC | civic |
| DICER1 E1813 mutations1 | ||||||||
| (diagnostic) | Malignant Ovarian Neoplasm | Diagnostic | B | Supports Positive | 5 | rejected | EID7049E1813 residue has been described as a hotspot for somatic missense mutations in DICER1. PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC | civic |
| DICER1 E1813Q2 | ||||||||
| (diagnostic) | Ovarian Sertoli-Leydig Cell TumorALIAS | Diagnostic | B | Does Not Support Positive | 4 | accepted | EID5535In this exploratory study of Sertoli-Leydig cell tumors, DICER1 mutations were found in over half of the samples sequenced, but were not found to have any role in tumorigenesis, contrary to what was p… (full text at CIViC) PMID 26428316 · Conlon et al., 2015 · Open in CIViC | civic |
| (oncogenic) | Ovarian Sertoli-Leydig Cell TumorALIAS | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID5892DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There were two patients with E1813… (full text at CIViC) PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC | civic |
| DICER1 G1809R1 | ||||||||
| (diagnostic) | Ovarian Sertoli-Leydig Cell TumorALIAS | Diagnostic | C | Supports Positive | 2 | submitted | EID12324Sanger sequencing identified DICER1 hotspot mutations in 20 of 32 (63%) ovarian Sertoli–Leydig cell tumors. These mutations were unrelated to tumor differentiation and mostly (16/20, 80%) were E1705K.… (full text at CIViC) PMID 26428316 · Conlon et al., 2015 · Open in CIViC | civic |
| DICER1 Loss-of-function2 | ||||||||
| (predisposing) | Ovarian GynandroblastomaALIAS | Predisposing | A | Supports Predisposition | 2 | submitted | EID11479In an analysis of 107 patients enrolled in the International Ovarian and Testicular Stromal Tumor Registry, 5 had gynandroblastoma (14-32 yo). 4 of the 4 gynandroblastoms with material available for … (full text at CIViC) PMID 29037807 · Schultz et al., 2017 · Open in CIViC | civic |
| 〃 | Anaplastic Sarcoma of the Kidney | Predisposing | B | Supports Predisposition | 2 | submitted | EID11473Analysis of DICER1 mutations in tumor/normal pairs from pediatric patients (7 months to 13 yo) with anaplastic sarcoma of the kidney identified a somatic RNase IIIb DICER1 mutation in 8 of 9 cases (89… (full text at CIViC) PMID 28862265 · Wu et al., 2018 · Open in CIViC | civic |
| DICER1 RNase IIIb Mutation4 | ||||||||
| (diagnostic) | Ovarian Sertoli-Leydig Cell TumorALIAS | Diagnostic | B | Supports Positive | 4 | submitted | EID13129A sequencing analysis of the DICER1 RNase IIIb region in nonepithelial ovarian neoplasms revealed a striking concentration of somatic mutations at residues required for metal binding within the cataly… (full text at CIViC) PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC | civic |
| 〃 | Ovarian GynandroblastomaALIAS | Diagnostic | C | Supports Positive | 2 | submitted | EID11481Genomic analysis identified DICER1 RNase IIIb domain hotspot mutations in 3 of 16 cases of gynandroblastoma, leading the authors to suggest that DICER1 hotspot mutations are a key driver in a subset o… (full text at CIViC) PMID 29660837 · Wang et al., 2018 · Open in CIViC | civic |
| (oncogenic) | Ovarian Sertoli-Leydig Cell TumorALIAS | |||||||
| DICER1 Loss-of-function + DICER1 RNase IIIb Mutation2 | ||||||||
| (diagnostic) | Anaplastic Sarcoma of the Kidney | Diagnostic | B | Supports Positive | 4 | submitted | EID11471Analysis of DICER1 mutations in tumor/normal pairs from pediatric patients (7 months to 13 yo) with anaplastic sarcoma of the kidney identified at least 1 RNase IIIb DICER1 mutation in 8 of 9 cases (… (full text at CIViC) PMID 28862265 · Wu et al., 2018 · Open in CIViC | civic |
| 〃 | Ovarian GynandroblastomaALIAS | Diagnostic | B | Supports Positive | 3 | submitted | EID11478In an analysis of 107 patients enrolled in the International Ovarian and Testicular Stromal Tumor Registry, 5 had gynandroblastoma (14-32 yo). 4 of the 4 gynandroblastoms with material available for … (full text at CIViC) PMID 29037807 · Schultz et al., 2017 · Open in CIViC | civic |
| DNMT1 EXPRESSION1 | ||||||||
| Decitabine | Malignant Ovarian Neoplasm | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID819DNMT1 expression (mRNA expression from an independent study) correlated with sensitivity to decitabine (ρ, −0.443, Pearson regression analysis) in this preclinical study of 45 solid tumor cell lines. … (full text at CIViC) PMID 25968887 · Stewart et al., 2015 · Open in CIViC | civic |
| DROSHA E518K1 | ||||||||
| (prognostic) | Kidney Wilms TumorALIAS | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID6090A higher relapse rate was observed in patients that have both DROSHA E518K and SIX Q177R muations. PMID 25670082 · Walz et al., 2015 · Open in CIViC | civic |
| EGFR 3' UTR MUTATION1 | ||||||||
| Carboplatin + PaclitaxelSubstitutes | Malignant Ovarian Neoplasm | Predictive | B | Supports Resistance | 4 | rejected | EID663The functional variant rs61764370 in the KRAS gene 3' UTR (KRAS-variant) was found to be correlated with platinum-based chemotherapy resistance in patients with Epithelial Ovarian Cancer (EOC). 291 EO… (full text at CIViC) PMID 22139083 · Ratner et al., 2012 · Open in CIViC | civic |
| EGFR Amplification1 | ||||||||
| (prognostic) | Cervical Squamous Cell CarcinomaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID471In patients with cervical squamous cell carcinoma, those with gene amplification of EGFR had worse overall survival. PMID 21730982 · Iida et al., 2011 · Open in CIViC | civic |
| EGFR Exon 4 Deletion1 | ||||||||
| Cisplatin | Ovarian CarcinomaALIAS | Predictive | D | Supports Resistance | 4 | accepted | EID662A variant of EGFR with exon 4 deletion (de4 EGFR) enhanced the invasiveness and cisplatin resistance of epithelial ovarian cancer cell lines (SKOV3, CAOV3, ES2) in vitro when compared with wild-type E… (full text at CIViC) PMID 23764753 · Zhang et al., 2013 · Open in CIViC | civic |
| EGFR ITD1 | ||||||||
| (diagnostic) | Congenital Mesoblastic Nephroma | Diagnostic | B | Supports Positive | 3 | submitted | EID11281In 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 |
| ALK e2::e201 | ||||||||
| Unspecified therapy | Renal Cell CarcinomaCURATED_BROADER | Predictive | E | Supports Sensitivity Response | 3 | accepted | EID1266Adenocarcinoma cells were detected via urinary cytology in a 53 year old woman. Cancer morphology suggested papillary renal cell carcinoma (RCC), type 2A. EML4-ALK variant 5 was discovered in tumor t… (full text at CIViC) PMID 22252991 · Sugawara et al., 2012 · Open in CIViC | civic |
| NTRK3 Fusion2 | ||||||||
| (diagnostic) | Congenital Mesoblastic Nephroma | Diagnostic | C | Supports Positive | 3 | accepted | EID10420To determine if EML4::NTRK3 fusions were recurrent in tumors known to harbor ETV6::NTRK3 fusions, the authors screened 63 cases with varying diagnoses (infantile fibrosarcoma, congenital mesoblastic n… (full text at CIViC) PMID 29099503 · Church et al., 2018 · Open in CIViC | civic |
| (oncogenic) | Cervical Sarcoma | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID10483A 33-year-old Han Chinese woman has been associated with an NTRK fusion cervical sarcoma which was positive for Pan-TRK by immunohistochemistry (IHC) analysis. However, FISH for NTRK1 was negative. Th… (full text at CIViC) PMID 35572973 · Dang et al., 2022 · Open in CIViC | civic |
| EMSY Overexpression1 | ||||||||
| Bevacizumab + Carboplatin + PaclitaxelCombination | Ovarian Serous AdenocarcinomaALIAS | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID12149Patients with high-grade serous ovarian cancer (HGSOC) and EMSY overexpression (n = 265) received platinum-based first-line chemotherapy. When comparing patients with high and low EMSY expression, usi… (full text at CIViC) PMID 31154673 · Hollis et al., 2019 · Open in CIViC | civic |
| EPAS1 Overexpression1 | ||||||||
| Pazopanib | Renal Cell CarcinomaCURATED_BROADER | Predictive | B | Does Not Support Sensitivity Response | 2 | accepted | EID1673HIF2A (EPAS1) staining was conducted on tumors from 66 patients, of which 27 were classified as low expression and 39 were classified as high expression. The response rates of patients with low and hi… (full text at CIViC) PMID 23881929 · Choueiri et al., 2013 · Open in CIViC | civic |
| EPHA2 Expression1 | ||||||||
| Dasatinib + TrametinibCombination | Malignant Uterine NeoplasmALIAS | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID12576In a preclinical study of uterine cancer cell lines resistant to EphA2 inhibitors (HEC-1A, Ishikawa, RL-95), EphA2-positive cells treated with the MEK inhibitor trametinib restored sensitivity to dasa… (full text at CIViC) PMID 34391578 · Wu et al., 2021 · Open in CIViC | civic |
| EPHB2 D679N (c.2035G>A)1 | ||||||||
| (diagnostic) | Malignant Prostate Neoplasm | Diagnostic | B | Supports Positive | 3 | submitted | EID7230The identification of tumor-suppressor genes in solid tumors by classical cancer genetics methods is difficult and slow. Nonsense-mediated RNA decay microarrays were combined with array-based compara… (full text at CIViC) PMID 15300251 · Huusko et al., 2004 · Open in CIViC | civic |
| EPHB2 EPHB21 | ||||||||
| (diagnostic) | Malignant Prostate Neoplasm | Diagnostic | B | Supports Positive | 3 | submitted | EID7226The EphB2 gene has been implicated as a tumor suppressor gene somatically altered in both prostate cancer (PC) and colorectal cancer. A set of 341 single nucleotide polymorphisms (SNPs) encompassing … (full text at CIViC) PMID 21603658 · Robbins et al., 2011 · Open in CIViC | civic |
| ERBB2 Amplification7 | ||||||||
| (prognostic) | Endometrial Serous Adenocarcinoma | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID1096In a study of 27 African American and caucasian patients, endometrial adenocarcinoma samples were assessed for HER2 via IHC staining, and association studies were performed using corresponding patient… (full text at CIViC) PMID 15746676 · Santin et al., 2005 · Open in CIViC | civic |
| Pertuzumab + TrastuzumabCombination | Bladder Carcinoma | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID5982The phase 2a MyPathway study assigned patients with HER2, EGFR, BRAF or SHH alterations to treatment with pertuzumab plus trastuzumab, erlotinib, vemurafenib, or vismodegib, respectively. Three of nin… (full text at CIViC) PMID 29320312 · Hainsworth et al., 2018 · Open in CIViC | civic |
| 〃 | Malignant Uterine NeoplasmALIAS | |||||||
| ERBB2 D277H2 | ||||||||
| (oncogenic) | Bladder Urothelial Carcinoma | Oncogenic | D | Does Not Support Oncogenicity | 2 | submitted | EID11362Variant found by RNA screening analysis in a UBC (urothelial bladder cancer) cell line (DSH1). The variant is located in the Extracellular II 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 | EID11363Variant found by RNA screening analysis in a UBC (urothelial bladder cancer) cell line (DSH1). The variant is located in the Extracellular II domain. In regards to the response to lapatinib, after th… (full text at CIViC) PMID 24971884 · de Martino et al., 2014 · Open in CIViC | civic |
| ERBB2 D769H1 | ||||||||
| Chemotherapy | Bladder Carcinoma | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID11499Variant found in a patient that was diagnosed with muscle-invasive bladder cancer in pretreatment transurethral resection tumor samples (Fig. 1; Patients ID:CF3097). The patient was categorised as a “… (full text at CIViC) PMID 25636205 · Groenendijk et al., 2016 · Open in CIViC | civic |
| ERBB2 G292R1 | ||||||||
| Neratinib | Malignant Bladder NeoplasmALIAS | Predictive | B | Does Not Support Sensitivity Response | 2 | accepted | EID12119In the SUMMIT basket trial (clinicaltrials.gov identifier NCT01953926) patients with solid tumors of various histologies harboring mutations of either HER2 or HER3 were enrolled and treated with the p… (full text at CIViC) PMID 29420467 · Hyman et al., 2018 · Open in CIViC | civic |
| ERBB2 L15F2 | ||||||||
| (oncogenic) | Bladder Urothelial Carcinoma | Oncogenic | D | Does Not Support Oncogenicity | 2 | submitted | EID11232Variant found by RNA screening analysis in a UBC (urothelial bladder cancer) cell line (VM-CUBIII). The variant is located in the signal domain. RT112 cells infected with lentiviral vectors containin… (full text at CIViC) PMID 24971884 · de Martino et al., 2014 · Open in CIViC | civic |
| Lapatinib | Bladder Urothelial Carcinoma | Predictive | D | Does Not Support Sensitivity Response | 2 | submitted | EID11231Variant found by RNA screening analysis in a UBC (urothelial bladder cancer) cell line (VM-CUBIII). The variant is located in the signal domain. In regards to the response to lapatinib, after three d… (full text at CIViC) PMID 24971884 · de Martino et al., 2014 · Open in CIViC | civic |
| ERBB2 Mutation1 | ||||||||
| Platinum Compound | Bladder Carcinoma | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID1694In patients with muscle-invasive bladder chancer, a cohort of complete responders to platinum chemotherapy (n=38) and non-responders to platinum chemotherapy (n=33) were evaluated for 178 cancer-assoc… (full text at CIViC) PMID 25636205 · Groenendijk et al., 2016 · Open in CIViC | civic |
| ERBB2 Overexpression1 | ||||||||
| Carboplatin + Paclitaxel + TrastuzumabCombination | Endometrial Serous Adenocarcinoma | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID7386In a randomized phase 2 trial, patients who have uterine serous carcinoma that overexpress erbb2 were allocated carboplatin-paclitaxed with or without trastuzumab. Median progression-free survival was… (full text at CIViC) PMID 29584549 · Fader et al., 2018 · Open in CIViC | civic |
| ERBB2 R143Q2 | ||||||||
| (oncogenic) | Bladder Urothelial Carcinoma | Oncogenic | D | Does Not Support Oncogenicity | 2 | submitted | EID11360Variant found by RNA screening analysis in a UBC (urothelial bladder cancer) cell line (DSH1). The variant is located in the Extracellular I domain. RT112 cells infected with lentiviral vectors contai… (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 | EID11361Variant found by RNA screening analysis in a UBC (urothelial bladder cancer) cell line (DSH1). The variant is located in the Extracellular I domain. In regards to the response to lapatinib, after thr… (full text at CIViC) PMID 24971884 · de Martino et al., 2014 · Open in CIViC | civic |
| ERBB2 R678L1 | ||||||||
| Chemotherapy | Bladder Carcinoma | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID11498Variant found in a patient that was diagnosed with muscle-invasive bladder cancer in pretreatment transurethral resection tumor samples (Fig. 1; Patients ID: CF3122). The patient was categorised as a … (full text at CIViC) PMID 25636205 · Groenendijk et al., 2016 · Open in CIViC | civic |
| ERBB2 R678Q2 | ||||||||
| (oncogenic) | Bladder Urothelial Carcinoma | Oncogenic | D | Does Not Support Oncogenicity | 2 | submitted | EID11469Variant found by RNA screening analysis in a UBC (urothelial bladder cancer) cell line (J82). The variant is located in the transmembrane domain. RT112 cells infected with lentiviral vectors containi… (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 | EID11470Variant found by RNA screening analysis in a UBC (urothelial bladder cancer) cell line (J82). The variant is located in the transmembrane domain. Regarding the response to lapatinib, after three days… (full text at CIViC) PMID 24971884 · de Martino et al., 2014 · Open in CIViC | civic |
Data updated 59 minutes 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.
| Oncogenic |
| D |
| Supports Oncogenicity |
| 4 |
| submitted |
EID13130Somatic missense alterations repeatedly affecting the metal-coordinating residues of the DICER1 RNase IIIb domain, particularly E1705, D1709, D1810, and E1813, were found across nonepithelial ovarian … (full text at CIViC) PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC |
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| 〃 | Anaplastic Sarcoma of the Kidney | Oncogenic | D | Supports Oncogenicity | 2 | submitted | EID11472An analysis of DICER1 mutations in anaplastic sarcoma of the kidney identified RNase IIIb DICER1 mutations in 8 of 9 cases (89%). An in vitro cleavage assay of miR122 demonstrated that three of the DI… (full text at CIViC) PMID 28862265 · Wu et al., 2018 · Open in CIViC | civic |
| B |
| Does Not Support Sensitivity Response |
| 2 |
| accepted |
EID5986The phase 2a MyPathway study assigned patients with HER2, EGFR, BRAF or SHH alterations to treatment with pertuzumab plus trastuzumab, erlotinib, vemurafenib, or vismodegib, respectively. None of the … (full text at CIViC) PMID 29320312 · Hainsworth et al., 2018 · Open in CIViC |
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| Trastuzumab | Malignant Endometrial NeoplasmCURATED_BROADER | Predictive | B | Does Not Support Sensitivity Response | 2 | accepted | EID1098This phase II single arm study assessed trastuzumab monotherapy in HER2 positive endometrial cancers with tumor response as primary endpoint. Participants had stage III, IV or recurrent HER2 positive… (full text at CIViC) PMID 19840887 · Fleming et al., 2010 · Open in CIViC | civic |
| 〃 | Endometrial Serous Adenocarcinoma | Predictive | C | Supports Sensitivity Response | 4 | accepted | EID1097HER2 expression in uterine serous papillary carcinoma (USPC) is thought to be associated with poor prognosis and may act as a targetable driver mutation in this cancer. HER2 overexpression in USPC is… (full text at CIViC) PMID 18555254 · Santin et al., 2008 · Open in CIViC | civic |
| Carboplatin + TrastuzumabCombination | Ovarian Mucinous Adenocarcinoma | Predictive | C | Supports Sensitivity Response | 2 | submitted | EID13137Ovarian mucinous carcinoma responds poorly to paclitaxel and carboplatin, prompting interest in targeted therapy, and it resembles gastro-oesophageal adenocarcinoma, a tumour type in which HER2 (ERBB2… (full text at CIViC) PMID 20003286 · McAlpine et al., 2009 · Open in CIViC | civic |
| Carboplatin/Paclitaxel Regimen + TrastuzumabCombination | Endometrial Serous Adenocarcinoma | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID11322In this randomized, phase II trial, 61 patients with primary stage III or IV or recurrent HER2/neu-positive uterine serous carcinoma. Participants were randomly assigned to receive carboplatin-paclita… (full text at CIViC) PMID 29584549 · Fader et al., 2018 · Open in CIViC | civic |