Urinary System Neoplasm

Among 35 patients with clear cell RCC, loss-of-function mutation of PBRM1 were correlated with response to anti-PD-1 monotherapy (P = 0.012). It was confirmed in an independent validation cohort of 63… (full text at CIViC)

PMID 29301960 · Miao et al., 2018 · Open in CIViC

In 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

In patients with sporatic clear cell renal cell carcinoma, those with mutations in PBRM1 had better overall survival than patients with BAP1 mutations.

PMID 23333114 · Kapur et al., 2013 · Open in CIViC

In this study of 21 patients with FGFR-driven urothelial carcinoma treated with selective FGFR inhibitors (including erdafitinib), post-progression molecular analyses (tissue and/or ctDNA sequencing) … (full text at CIViC)

PMID 37377403 · Facchinetti et al., 2023 · Open in CIViC

PTEN loss is associated with reduced response to mTOR inhibitors in patients with bladder cancer.

PMID 23989949 · Seront et al., 2013 · Open in CIViC

A 51-year-old woman with an invasive small-cell cancer of the ureter showed a durable complete response at 3-years when treated with AZD7762 (an ATP-competitive checkpoint kinase inhibitor) and irinot… (full text at CIViC)

PMID 24934408 · Al-Ahmadie et al., 2014 · Open in CIViC

In this pre-clinical study, RAF inhibition and RAF inhibition in combination with MEK inhibition was tested in vivo in RAF1-amplified tumors (in both mice and PDX tumor models). The models were treate… (full text at CIViC)

PMID 34554931 · Bekele et al., 2021 · Open in CIViC

We have used polyclonal anti-synthetic peptide serum to study the role of retinoblastoma gene (RB) inactivation in a variety of human tumor cell lines. Our analysis indicates that inactivation of the … (full text at CIViC)

PMID 2181449 · Horowitz et al., 1990 · Open in CIViC

Analysis of cancer genome databases led to identification of a recurrent point mutation in RHEB (Y35N), reported in RCC and in several other cancers. Y35N RHEB mutation in ccRCC causes mTORC1 hyperact… (full text at CIViC)

PMID 26255626 · Ghosh et al., 2015 · Open in CIViC

Vandetanib in Combination With Metformin is tested in Phase II trial in People With HLRCC or SDH-Associated Kidney Cancer or Sporadic Papillary Renal Cell Carcinoma

PMID 27325049 · Sidana et al., 2016 · Open in CIViC

In 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

In 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

In a retrospective analysis of 20 patients with renal medullary carcinoma, all patients had loss of SMARCB1 staining by IHC. FISH revealed 11 (55%) had a SMARCB1 translocation with loss of the second… (full text at CIViC)

PMID 30980040 · Jia et al., 2019 · Open in CIViC

In a comparison of 6 renal medullary carcinomas (RMC) and 22 collecting duct carcinomas (CDC), all 6 RMC were negative for SMARCB1 by IHC whereas only 1 of 22 CDC lost SMARCB1 expressing, supporting S… (full text at CIViC)

PMID 22686875 · Calderaro et al., 2012 · Open in CIViC

Tumor samples from 125 patients with bladder cancer were assessed by IHC for STAG2 expression. STAG2-negativity was associated with lower histological grade (p = 0.009). Complete loss of STAG2 express… (full text at CIViC)

PMID 26838030 · Qiao et al., 2016 · Open in CIViC

A 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

Patients with mutations at TERT promoter region of -124 and -146 of ATG showed poor survival in the absence but not in the presence of the variant allele of a common polymorphism with ID of rs2853669 … (full text at CIViC)

PMID 24101484 · Rachakonda et al., 2013 · Open in CIViC

This study evaluates 200 nephrectomy cases. Within the 200 cases, there are four cases that are Xp11.2 translocation renal cell carcinomas (RCC). Previous studies identified two stages (pediatric and … (full text at CIViC)

PMID 34917511 · Ge et al., 2021 · Open in CIViC

This manuscript is a study of 37 TFEB-altered tumors, 15 of which are associated with TFEB amplification at 6p21.1 and 22 of which are associated with TFEB-rearrangement. Previous literature had indic… (full text at CIViC)

PMID 31600176 · Gupta et al., 2019 · Open in CIViC

This is a retrospective cohort study examining the association between tumour mutational burden (TMB) and clinical benefit from first-line single-arm immune checkpoint inhibitor (ICPI) therapy compare… (full text at CIViC)

PMID 35977348 · Graf et al., 2022 · Open in CIViC

40 diffuse anaplasia in Wilms tumours (DAWT) samples were tested using copy number (n = 32) and gene expression (n = 36) arrays. 22 had TP53 mutations and 20 of these also had 17p loss. An increased r… (full text at CIViC)

PMID 25313908 · Maschietto et al., 2014 · Open in CIViC

44 archival FFPE samples from confirmed cases of Wilms tumor with mean age 3 years 2 months, and taken from the most histologically aggressive parts of each tumor, were stained with p53 monoclonal ant… (full text at CIViC)

PMID 21525573 · Jadali et al., 2011 · Open in CIViC

A patient with metastatic bladder cancer that responded well to the mTOR inhibitor everolimus was shown to harbor a TSC1 frameshift truncation mutation (c.1907_1908del, p.Glu636fs) and a nonsense NF2 … (full text at CIViC)

PMID 22923433 · Iyer et al., 2012 · Open in CIViC

Tumors (n=14) expressing TSC1 mutations (5/14) show notably more sensitivity to everolimus than their wild-type counterparts (9/14). A dramatic response was observed in a patient with combination of L… (full text at CIViC)

PMID 22923433 · Iyer et al., 2012 · Open in CIViC

In a retrospective study of 79 RCC patients treated with diverse rapalogs (mTOR inhibitors) inactivating TSC1 and TSC2-mutations and activating MTOR-mutations were significantly more common in respons… (full text at CIViC)

PMID 26831717 · Kwiatkowski et al., 2016 · Open in CIViC

In a retrospective study of 79 RCC patients treated with diverse rapalogs (mTOR inhibitors) inactivating TSC1 and TSC2-mutations and activating MTOR-mutations were significantly more common in respons… (full text at CIViC)

PMID 26831717 · Kwiatkowski et al., 2016 · Open in CIViC

A case of metastatic renal cell carcinoma (RCC) is reported with a novel translocation t(X;9)(p11.23;p13.3) and RNA-seq identification of a putative corresponding fusion: VCP::TFE3. TFE3 fusion positi… (full text at CIViC)

PMID 36695651 · Kuentz et al., 2023 · Open in CIViC

This 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

Tissue analysis from 61 VHL patients, 30 sporadic renal cell carcinoma (RCC) tumor samples, and 6 sporadic RCC cell lines revealed 22 variants within VHL patients, 10 variants in tumor samples and var… (full text at CIViC)

PMID 7977367 · Whaley et al., 1994 · Open in CIViC

This 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

Tumors 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

Tumors 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

Tumors 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

Tissue analysis from 61 VHL patients, 30 sporadic renal cell carcinoma (RCC) tumor samples, and 6 sporadic RCC cell lines revealed 22 variants within VHL patients, 10 variants in tumor samples and var… (full text at CIViC)

PMID 7977367 · Whaley et al., 1994 · Open in CIViC

This 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

In a 54 year old male patient with sporadic renal cell carcinoma, VHL c.163_164delGA causing a p.Glu55 Stop at 130 frameshift mutation was observed. Loss of heterozygosity analysis was non-informative… (full text at CIViC)

PMID 10408776 · Gallou et al., 1999 · Open in CIViC

This 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

This 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

Tumors 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

Tumors 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

In 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

In 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

Tissue analysis from 61 VHL patients, 30 sporadic renal cell carcinoma (RCC) tumor samples, and 6 sporadic RCC cell lines revealed 22 variants within VHL patients, 10 variants in tumor samples and var… (full text at CIViC)

PMID 7977367 · Whaley et al., 1994 · Open in CIViC

This 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

Tumors 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