Subtype
Clear Cell Renal Cell Carcinoma
CI-CAN-00004976CCRCCExplore in graph →
Loading cancer entity…
Subtype
CI-CAN-00004976CCRCCExplore in graph →
Variants & evidence
67 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 |
|---|---|---|---|---|---|---|---|
| ARID1A Underexpression1 | |||||||
| (prognostic) | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID5676This study included 290 patients with Clear Cell Renal Cell Carcinoma whose tumor tissues were sampled and then analyzed. These samples were then divided according to ARID1A expression after immunohis… (full text at CIViC) PMID 25628030 · Park et al., 2015 · Open in CIViC | civic |
| BAP1 Mutation3 | |||||||
| (prognostic) | Prognostic | B | Supports Poor Outcome | 5 | accepted | EID459In patients with clear cell renal cell carcinoma, in a multivariate analysis those with mutations in BAP1 had worse overall survival than wild-type. PMID 23797736 · Sato et al., 2013 · Open in CIViC | civic |
| 〃 | Prognostic | B | Supports Poor Outcome | 5 | accepted | EID461In patients with clear cell renal cell carcinoma, those with nonsilent mutations of BAP1 had worse overall survival than wild-type. PMID 23792563 · 2013, Nature · Open in CIViC | civic |
| Everolimus + SunitinibSequential | Predictive | B | Supports Resistance | 4 | accepted | EID5339This study evaluated the effects of everolimus and sunitinib on patients with metastatic renal cell carcinoma. A total of 220 patients with RCC were evaluated for 341 genes at 540x coverage. Of all 22… (full text at CIViC) | |
| BAP1 Q267fs1 | |||||||
| Niraparib | Predictive | C | Supports Sensitivity Response | 1 | submitted | EID11199A patient with Clear cell renal cell carcinoma previously treated with sorafenib, axitinib, and everolimus was found to harbor a BAP1 frameshift mutation described as c.799_800del (p.Q267fs). Based o… (full text at CIViC) PMID 35875073 · Lian et al., 2022 · Open in CIViC | civic |
| BRD4 Overexpression1 | |||||||
| JQ1 | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID2957Renal cell carcinoma (RCC) remains an intractable genitourinary malignancy. Resistance to chemotherapy or targeted therapies in RCC is presumably due to the complicated underlying molecular mechanisms… (full text at CIViC) PMID 28391274 · Wu et al., 2017 · Open in CIViC | civic |
| GNAS c.393T>C1 | |||||||
| (prognostic) | Prognostic | B | Supports Better Outcome | 4 | accepted | EID2896In this study, Kaplan-Meier curves for tumor progression, development of metastasis, and tumor-related death showed a significant association of the T393C polymorphism with outcome (5-year cancer-spec… (full text at CIViC) PMID 16467086 · Frey et al., 2006 · Open in CIViC | civic |
| MTOR Q2223K1 | |||||||
| Temsirolimus | Predictive | D | Supports Sensitivity Response | — | submitted | EID4522In an in vitro study, HEK293T cells expressing MTOR Q2223K, demonstrated sensitivity to temsirolimus treatment, comparable to HEK293T cells expressing wild-type MTOR. Sensitivity was determined by ass… (full text at CIViC) PMID 24622468 · Voss et al., 2014 · Open in CIViC | civic |
| PBRM1 Mutation2 | |||||||
| (prognostic) | Prognostic | B | Supports N/A | 3 | accepted | EID420In renal clear cell carcinoma, patients with PBRM1 mutations did not have a significantly different cancer specific survival. PMID 23620406 · Hakimi et al., 2013 · Open in CIViC | civic |
| Anti-PD-L1 Monoclonal Antibody + CTLA-4 InhibitorSubstitutes | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID7247Clinical benefit to immune checkpoint blockade was associated with loss-of-function mutations in the PBRM1 gene (P = 0.012), which encodes a subunit of the PBAF switch-sucrose nonfermentable (SWI/SNF)… (full text at CIViC) PMID 29301960 · Miao et al., 2018 · Open in CIViC | civic |
| SETD2 Loss2 | |||||||
| Anti-PD1 Monoclonal Antibody + ATR InhibitorCombination | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID12580In preclinical RCC models (n ≈ 5/group), Setd2 loss enhanced sensitivity to the ATR inhibitor VE822 (60 mg/kg orally, 5 days/week) and anti–PD-1 antibody (100 µg intraperitoneally, every 3 days) reduc… (full text at CIViC) PMID 37527013 · Liu et al., 2023 · Open in CIViC | civic |
| Akt Inhibitor MK2206 + PI3Kbeta Inhibitor AZD8186 + TGX221Substitutes | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID12581In clear cell RCC, SETD2 loss predicts sensitivity to PI3Kβ pathway inhibition: SETD2-deficient 786-0 and SETD2-mutant A498 cells treated with PI3Kβ inhibitors TGX221 or AZD8186 showed reduced viabili… (full text at CIViC) PMID 31695846 · Terzo et al., 2019 · Open in CIViC | civic |
| TERT Overexpression1 | |||||||
| UO126 | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID2900A total of 96 histopathologically confirmed RCC cases and corresponding normal tissues were subjected to hTERT gene expression using real-time PCR. Two RCC cell lines viz. ACHN and A498 were treated w… (full text at CIViC) PMID 28215740 · Pal et al., 2017 · Open in CIViC | civic |
| VHL A149fs (c.444dup)1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6156This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL C162R (c.484T>C)1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6161This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL D121_A122del (c.361_366del)1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID6907Tumors from 98 patients with sporadic clear cell renal carcinoma (ccRC) were analyzed for VHL mutations and loss of heterozygosity (LOH). Somatic VHL variants were observed in 56 patients, and VHL LOH… (full text at CIViC) PMID 7915601 · Gnarra et al., 1994 · Open in CIViC | civic |
| VHL E55fs (c.162delG)1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6127This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL E70fs (c.209_210delAG)1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6133This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL E94_P97del (c.281_291del)1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6142This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL G114C (c.340G>T)1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6145This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL G144fs (c.429_430insGGAC)1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6153This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL G144fs (c.430_433delGGAC)1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6154This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL H191fs (c.570_574delCCACC)1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6168This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL I206fs (c.615delinsAA)1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6169This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL K114fs (c.339_340delAG)1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6144This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL K171fs (c.512_516delAGCCT)1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6165This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL L116fs (c.347delT)1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6146This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL L118fs (c.349_350insG)1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6147This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL L118P (c.353T>C)1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID6905Tumors from 98 patients with sporadic clear cell renal carcinoma (ccRC) were analyzed for VHL mutations and loss of heterozygosity (LOH). Somatic VHL variants were observed in 56 patients, and VHL LOH… (full text at CIViC) PMID 7915601 · Gnarra et al., 1994 · Open in CIViC | civic |
| VHL L158_K159del (c.472_477del)1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6159This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL L158V (c.472C>G)1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6160This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL L169P (c.506T>C)1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6164This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL L169_V170del (c.505_510del)1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6163This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL L184P (c.551T>C)1 | |||||||
| (diagnostic) | Diagnostic | C | Supports Positive | 2 | accepted | EID6167195 patients with sporadic clear cell renal cell carcinoma (sporadic CCRCC) were investigated for variants in the VHL gene, in order to determine the possible relationship between VHL mutations in CCR… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL L85fs (c.253delC)1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6134This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL L85P (c.254T>C)1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6135This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL L89H (c.266T>A)1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6139This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL L89P (c.266T>C)1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6140This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL Loss-of-function1 | |||||||
| (prognostic) | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID428In patients with renal clear cell carcinoma, patients with loss of function VHL mutations had shorter tumor-specific survival. PMID 11793370 · Schraml et al., 2002 · Open in CIViC | civic |
| VHL M1? (c.1-1_20del21)1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1946This variant was detected in a single case with clear-cell renal cell carcinoma. The tumor had two somatic variants (c.1-1_20del21 and c.291_310del20). Either of these variants is predicted to be quit… (full text at CIViC) PMID 15932632 · van Houwelingen et al., 2005 · Open in CIViC | civic |
| VHL M1? (c.3G>A)1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1947Mutation detected in one case. Case shows clear-cell renal cell carcinoma. This case also harbored a second somatic variant in VHL: 209-210delAG (Stop130). PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL M54IFS (c.162_166delGGAGG)1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1914A study of sporadic renal cell carcinoma identified this frameshift confirmed somatic variant along with LOH of the VHL gene in a case with clear cell renal carcinoma (case #152 in the study). PMID 8187067 · Shuin et al., 1994 · Open in CIViC | civic |
| VHL Mutation2 | |||||||
| (prognostic) | Prognostic | B | Supports Better Outcome | 4 | accepted | EID418In patients with renal clear cell carcinoma, patients with VHL mutations had longer cancer-specific survival. PMID 18464292 · Patard et al., 2008 · Open in CIViC | civic |
| 〃 | Prognostic | B | Supports N/A | 3 | accepted | EID422In renal clear cell carcinoma, patients with VHL mutations did not have a significant impact on cancer specific survival. PMID 23620406 · Hakimi et al., 2013 · Open in CIViC | civic |
| VHL N131fs (c.389delT)1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6149This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL N141fs (c.420delC)1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6151This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL N141fs (c.422_428del)1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6152This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL N90fs (c.269delA)1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6141This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL P138R (c.413C>G)1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID6915Tumors from 98 patients with sporadic clear cell renal carcinoma (ccRC) were analyzed for VHL mutations and loss of heterozygosity (LOH). Somatic VHL variants were observed in 56 patients, and VHL LOH… (full text at CIViC) PMID 7915601 · Gnarra et al., 1994 · Open in CIViC | civic |
| VHL P61_S65del (c.183_195del)1 | |||||||
| (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6129This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
Data updated 12 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.
PMID 27751729 · Hsieh et al., 2017 · Open in CIViC
| civic |