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Non-malignant20,494 active trials253 approved drugs3,567 evidence items
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Variants & evidence
7,135 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 |
|---|---|---|---|---|---|---|---|---|
| VHL L169P (c.506T>C)1 | ||||||||
| (oncogenic) | Clear Cell Renal Cell Carcinoma | 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) | Clear Cell Renal Cell Carcinoma | 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)2 | ||||||||
| (diagnostic) | Clear Cell Renal Cell Carcinoma | 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 |
| 〃 | Renal Cell CarcinomaCURATED_BROADER | Diagnostic | C | Supports Positive | 1 | accepted | EID6027In a study of 31 kidney tumors from France, 14 somatic VHL mutations were found. Most tumors were found to have heterozygous pattern of mutation likely due to contamination of renal cancer tissues wit… (full text at CIViC) PMID 7591282 · Bailly et al., 1995 · Open in CIViC | civic |
| VHL L63fs (c.187delC)1 | ||||||||
| (predisposing) | Renal Cell CarcinomaCURATED_BROADER | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6057In a study of 31 kidney tumor from France, 14 somatic VHL mutations were found. Most tumors were found to have heterozygous pattern of mutation likely due to contamination of renal cancer tissues with… (full text at CIViC) PMID 7591282 · Bailly et al., 1995 · Open in CIViC | civic |
| VHL L63P (c.188T>C)1 | ||||||||
| (predisposing) | Adrenal Gland Pheochromocytoma | Predisposing | C | Supports Uncertain Significance | 2 | submitted | EID6126Screening of 68 patients, who had been operated on for apparently sporadic pheochromocytomas, for germline mutations in the VHL gene. This missense mutation was found in a 35 year-old male with unilat… (full text at CIViC) PMID 9663592 · van der Harst et al., 1998 · Open in CIViC | civic |
| VHL L85fs (c.253delC)1 | ||||||||
| (oncogenic) | Clear Cell Renal Cell Carcinoma | 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)2 | ||||||||
| (predisposing) | Renal Cell CarcinomaCURATED_BROADER | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6023In a study of 31 kidney tumor from France, 14 somatic VHL mutations were found. Most tumors were found to have heterozygous pattern of mutation likely due to contamination of renal cancer tissues with… (full text at CIViC) PMID 7591282 · Bailly et al., 1995 · Open in CIViC | civic |
| (oncogenic) | Clear Cell Renal Cell Carcinoma | 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)2 | ||||||||
| (predisposing) | Kidney CarcinomaALIAS | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6895Tumors from 110 patients with sporadic renal carcinoma were analyzed for VHL mutations and loss of heterozygosity. 56 of the 98 samples from sporadic, clear cell renal carcinoma patients were identifi… (full text at CIViC) PMID 7915601 · Gnarra et al., 1994 · Open in CIViC | civic |
| (oncogenic) | Clear Cell Renal Cell Carcinoma | 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) | Clear Cell Renal Cell Carcinoma | 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 L89R (c.266T>G)1 | ||||||||
| (predisposing) | Kidney CarcinomaALIAS | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6896Tumors from 110 patients with sporadic renal carcinoma were analyzed for VHL mutations and loss of heterozygosity. 56 of the 98 samples from sporadic, clear cell renal carcinoma patients were identifi… (full text at CIViC) PMID 7915601 · Gnarra et al., 1994 · Open in CIViC | civic |
| VHL Loss2 | ||||||||
| Pazopanib | Renal Cell CarcinomaCURATED_BROADER | Predictive | B | Does Not Support Resistance | 2 | submitted | EID4829VHL mutations were evaluated in 78 tumors samples of patients with metastatic RCC treated with pazopanib as part of a clinical trial. Overall, 87% had one VHL mutation, 12% showed promoter hypermethyl… (full text at CIViC) PMID 23881929 · Choueiri et al., 2013 · Open in CIViC | civic |
| Temsirolimus | Kidney CarcinomaALIAS | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID1035Preclinical studies linking the efficacy of mTOR inhibitor CCI-779 to VHL loss in vitro and in mouse models of kidney cancer. VHL-deficient tumors were more sensitive to mTOR inhibition than VHL-profi… (full text at CIViC) PMID 16341243 · Thomas et al., 2006 · Open in CIViC | civic |
| VHL Loss-of-function2 | ||||||||
| (prognostic) | Clear Cell Renal Cell Carcinoma | 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 |
| Temsirolimus | Renal Cell CarcinomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID4828A preclinical study to show sensitization to mTOR inhibition with Temsirolimus in renal cell carcinoma cells and a mouse mode showing a VHL loss of function. Growth arrest caused by Temsirolimus corr… (full text at CIViC) PMID 16341243 · Thomas et al., 2006 · Open in CIViC | civic |
| VHL M1? (c.1-1_20del21)1 | ||||||||
| (oncogenic) | Clear Cell Renal Cell Carcinoma | 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) | Clear Cell Renal Cell Carcinoma | 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 M1FS (c.1_17del17)1 | ||||||||
| (oncogenic) | Chromophobe Renal Cell Carcinoma | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1945This somatic mutation was detected in two samples from a single patient with chromophobe renal cell carcinoma (a 74 year old male). The tumor also harbored a silent T157= (c.471T>A) somatic variant. PMID 15932632 · van Houwelingen et al., 2005 · Open in CIViC | civic |
| VHL M211L (c.631A>C)1 | ||||||||
| (predisposing) | Malignant Breast Neoplasm | Predisposing | C | Supports Predisposition | 3 | submitted | EID1076045 Lebanese patients with a reported family history of breast cancer were observed in this study. Using Whole Exome Sequencing (WES) with Sanger sequencing, various germline mutations were found. One … (full text at CIViC) PMID 28202063 · Jalkh et al., 2017 · Open in CIViC | civic |
| VHL M54fs (c.160_175del)1 | ||||||||
| (predisposing) | Kidney CarcinomaALIAS | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6888Tumors from 110 patients with sporadic renal carcinoma were analyzed for VHL mutations and loss of heterozygosity. 56 of the 98 samples from sporadic, clear cell renal carcinoma patients were identifi… (full text at CIViC) PMID 7881415 · Foster et al., 1994 · Open in CIViC | civic |
| VHL M54IFS (c.162_166delGGAGG)1 | ||||||||
| (oncogenic) | Clear Cell Renal Cell Carcinoma | 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 Mutation7 | ||||||||
| (prognostic) | Clear Cell Renal Cell Carcinoma | 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 |
| 〃 | Clear Cell Renal Cell Carcinoma | 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 |
| Anti-VEGF Monoclonal Antibody | Renal Cell CarcinomaCURATED_BROADER | Predictive | B | Does Not Support Sensitivity Response | 4 | rejected | ||
| VHL N131fs (c.389delT)1 | ||||||||
| (oncogenic) | Clear Cell Renal Cell Carcinoma | 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) | Clear Cell Renal Cell Carcinoma | 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) | Clear Cell Renal Cell Carcinoma | 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 N150fs (c.447del)1 | ||||||||
| (oncogenic) | Kidney CarcinomaALIAS | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID6918Tumors 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 N174fs (c.520delA)1 | ||||||||
| (predisposing) | Renal Cell CarcinomaCURATED_BROADER | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6030In a study of 31 kidney tumor from France, 14 somatic VHL mutations were found. Most tumors were found to have heterozygous pattern of mutation likely due to contamination of renal cancer tissues with… (full text at CIViC) PMID 7591282 · Bailly et al., 1995 · Open in CIViC | civic |
| VHL N67fs (c.197_213del)1 | ||||||||
| (predisposing) | Kidney CarcinomaALIAS | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6891Tumors from 110 patients with sporadic renal carcinoma were analyzed for VHL mutations and loss of heterozygosity. 56 of the 98 samples from sporadic, clear cell renal carcinoma patients were identifi… (full text at CIViC) PMID 7915601 · Gnarra et al., 1994 · Open in CIViC | civic |
| VHL N78H (c.232A>C)1 | ||||||||
| (predisposing) | Renal Cell CarcinomaCURATED_BROADER | Predisposing | C | Supports Predisposition | 4 | accepted | EID5130Genotype-phenotype correlations of 573 VHL patients were analyzed and confirmed that higher risk of pheochromocytoma is associated with missense mutations that result in substitution of a surface amin… (full text at CIViC) PMID 17024664 · Ong et al., 2007 · Open in CIViC | civic |
| VHL N78S (c.233A>G)1 | ||||||||
| (predisposing) | Renal Cell CarcinomaCURATED_BROADER | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6022In a study of 31 kidney tumor from France, 14 somatic VHL mutations were found. Most tumors were found to have heterozygous pattern of mutation likely due to contamination of renal cancer tissues with… (full text at CIViC) PMID 7591282 · Bailly et al., 1995 · Open in CIViC | civic |
| VHL N7D (c.19A>G)1 | ||||||||
| (oncogenic) | Renal Cell CarcinomaCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1948A somatic mutation (N7D) detected in one case, a 79ya patient with renal cell carcinoma (case '1VT'). The patient had a second in-frame deletion of 5 amino acids (41-45), but the author speculate that… (full text at CIViC) PMID 11536052 · Ma et al., 2001 · Open in CIViC | civic |
| VHL N90fs (c.269delA)1 | ||||||||
| (oncogenic) | Clear Cell Renal Cell Carcinoma | 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 N90I (c.269A>T)1 | ||||||||
| (predisposing) | Kidney CarcinomaALIAS | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6897Tumors from 110 patients with sporadic renal carcinoma were analyzed for VHL mutations and loss of heterozygosity. 56 of the 98 samples from sporadic, clear cell renal carcinoma patients were identifi… (full text at CIViC) PMID 7915601 · Gnarra et al., 1994 · Open in CIViC | civic |
| VHL P138R (c.413C>G)1 | ||||||||
| (oncogenic) | Clear Cell Renal Cell Carcinoma | 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 P192R (c.575C>G)1 | ||||||||
| (predisposing) | Adrenal Gland Pheochromocytoma | Predisposing | C | N/A N/A | 3 | submitted | EID9343A case report of a 70Y female NF1 patient was diagnosed with an isolated pheochromocytoma, hyperparathyroidism and medullary thyroid cancer. Molecular screening for germline mutations of the genes NF1… (full text at CIViC) PMID 19558618 · Gkaliagkousi et al., 2009 · Open in CIViC | civic |
| VHL P25L (c.74C>T)1 | ||||||||
| (predisposing) | Renal Cell CarcinomaCURATED_BROADER | Predisposing | C | Supports Predisposition | 3 | submitted | EID4899Mutation discovered in 64 yr. old and 77 yr. old brothers. 64 yr. old brother was diagnosed with VHL disease (VHLD) due to mutation and previous diagnosis of colon adenocarcinoma, clear cell renal cel… (full text at CIViC) PMID 23857093 · Zinnamosca et al., 2013 · Open in CIViC | civic |
| VHL P61= (c.183C>G)1 | ||||||||
| (predisposing) | Renal Cell CarcinomaCURATED_BROADER | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6021In a study of 31 kidney tumor from France, 14 somatic VHL mutations were found. Most tumors were found to have heterozygous pattern of mutation likely due to contamination of renal cancer tissues with… (full text at CIViC) PMID 7591282 · Bailly et al., 1995 · Open in CIViC | civic |
| VHL P61fs (c.181delC)1 | ||||||||
| (predisposing) | Renal Cell CarcinomaCURATED_BROADER | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6058In a study of 31 kidney tumor from France, 14 somatic VHL mutations were found. Most tumors were found to have heterozygous pattern of mutation likely due to contamination of renal cancer tissues with… (full text at CIViC) PMID 7591282 · Bailly et al., 1995 · Open in CIViC | civic |
| VHL P61fs Stop at 121(c.180_208del)1 | ||||||||
| (predisposing) | Kidney CarcinomaALIAS | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6889Tumors from 110 patients with sporadic renal carcinoma were analyzed for VHL mutations and loss of heterozygosity. 56 of the 98 samples from sporadic, clear cell renal carcinoma patients were identifi… (full text at CIViC) PMID 7915601 · Gnarra et al., 1994 · Open in CIViC | civic |
| VHL P61_S65del (c.183_195del)1 | ||||||||
| (oncogenic) | Clear Cell Renal Cell Carcinoma | 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 |
| VHL P86fs (c.255_256delGC)1 | ||||||||
| (oncogenic) | Clear Cell Renal Cell Carcinoma | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6136This 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 P86H (c.257C>A)1 | ||||||||
| (predisposing) | Kidney CarcinomaALIAS | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6894Tumors from 110 patients with sporadic renal carcinoma were analyzed for VHL mutations and loss of heterozygosity. 56 of the 98 samples from sporadic, clear cell renal carcinoma patients were identifi… (full text at CIViC) PMID 7915601 · Gnarra et al., 1994 · Open in CIViC | civic |
Data updated 18 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.
EID4830A meta-analysis to evaluate the association between the VHL alteration and clinical outcomes in patients with RCC. Six studies (total of 633 patients) were included. 61,8% had a VHL mutation. The meta… (full text at CIViC) PMID 28103578 · Kim et al., 2017 · Open in CIViC |
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| 〃 | Renal Cell CarcinomaCURATED_BROADER | Predictive | B | Supports Resistance | 4 | rejected | EID4831A meta-analysis to evaluate the association between the VHL alteration and clinical outcomes in patients with RCC. There were six studies including a total of 633 patients: 244 patients who received a… (full text at CIViC) PMID 28103578 · Kim et al., 2017 · Open in CIViC | civic |
| 〃 | Renal Cell CarcinomaCURATED_BROADER | Predictive | B | Does Not Support Sensitivity Response | 4 | accepted | EID4832A meta-analysis to evaluate the association between the VHL alteration and clinical outcomes in patients with RCC. There were six studies including a total of 633 patients: 244 patients who received a… (full text at CIViC) PMID 28103578 · Kim et al., 2017 · Open in CIViC | civic |
| Everolimus | Renal Cell CarcinomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 4 | accepted | EID5323A randomized, open-label phase 2 study, encompassing 85 patients, to compare the efficacy of dual PIK3/mTOR Inhibitor Apitolisib and mTORC1 inhibitor Everolimus in patients who progressed on or after … (full text at CIViC) PMID 26951309 · Powles et al., 2016 · Open in CIViC | civic |
| Pazopanib | Renal Cell CarcinomaCURATED_BROADER | Predictive | B | Does Not Support Sensitivity Response | 2 | accepted | EID1672VHL mutations were evaluated in 78 tumors samples of patients with metastatic RCC treated with pazopanib as part of a clinical trial. Overall, 87% had one VHL mutation, 12% showed promoter hypermethyl… (full text at CIViC) PMID 23881929 · Choueiri et al., 2013 · Open in CIViC | civic |