Genitourinary System Neoplasm

Renal cell carcinoma was found in three adults from two consecutive generations of a Spanish family: The proband (III:1), the mother (II-2) and the aunt (II:3). The proband was found at 44Y with RCC a… (full text at CIViC)

PMID 12522559 · Meléndez et al., 2003 · Open in CIViC

Molecular analysis of VHL gene in 146 probands, 103 with and 43 without a positive family history, resulted in the detection of 43 germline VHL mutations. Majority of mutations were found in patients … (full text at CIViC)

PMID 17661816 · Hes et al., 2007 · 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

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

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

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

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

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

A single case (70 year-old named "3GT" in this study) with sporadic grade 3 renal cell carcinoma was observed with both W8* and G44D somatic variants.

PMID 11536052 · Ma 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

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 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

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

Bakouny, et al. (2022) performed a comprehensive study of the molecular and clinical features of 90 translocation renal cell carcinomas (tRCCs), defined as subtype of kidney cancer driven by MiT/TFE g… (full text at CIViC)

PMID 34986355 · Bakouny et al., 2022 · Open in CIViC

Vps37A-deficient ovarian cancer cells become irresponsive to inhibition by the therapeutic antibody cetuximab in-vitro.

PMID 22016507 · Wittinger et al., 2011 · Open in CIViC

This study screened 983 Renal Cell Carcinoma (RCC) cases and identified 65 tumors with morphologic features suspicious of RCC with Xp11.2 translocation/TFE3 gene fusion (Xp11.2 RCC). TFE3 immunohistoc… (full text at CIViC)

PMID 26169997 · He et al., 2015 · Open in CIViC

Argani. et al,. (2016) included a total of 60 cases with known TFE3 gene rearrangements in this study of Xp11 translocation positive neoplasms (47 RCC, 8 PEComa, and 5 melanotic renal cancers). The ag… (full text at CIViC)

PMID 26975036 · Argani et al., 2016 · Open in CIViC

Bakouny, et al. (2022) performed a comprehensive study of the molecular and clinical features of translocation renal cell carcinomas (tRCCs), defined as subtype of kidney cancer driven by MiT/TFE gene… (full text at CIViC)

PMID 34986355 · Bakouny et al., 2022 · Open in CIViC

Renal cell carcinomas (RCCs) with t(6;11)(p21;q12) are extremely rare and are characterized by a specific chromosome translocation involving the transcription factor EB (TFEB). Identification of eithe… (full text at CIViC)

PMID 22895266 · Rao et al., 2012 · Open in CIViC

The XRCC1 R399Q variant was correlated with increased response to platinum-based neoadjuvant chemotherapy in patients with cervical cancer. Tumor samples from 36 patients with Stage IB or IIA bulky (g… (full text at CIViC)

PMID 16875718 · Chung et al., 2006 · Open in CIViC

In this 2012 study O’Meara et al. included 51 clear cell sarcoma of kidney (CCSK). Using an index CCSK with the t(10;17)(q22;p13) identified by cytogenetics, they were able to map the breakpoints and … (full text at CIViC)

PMID 22294382 · O'Meara et al., 2012 · Open in CIViC

In this 2020 study Kenny et al. included 68 cases of clear cell sarcoma of the kidney (CCSK). Using RT-PCR with RNA extracted from FFPE tumour tissue they detected a YWHAE::NUTM2 fusion transcript in… (full text at CIViC)

PMID 32364435 · Kenny et al., 2020 · Open in CIViC

Efficacy of second-line sorafenib treatment (initially 12.5 mg/day, escalated to 25 mg/day) in a 82-year old male patient with type 2 papillary renal cell carcinoma was confirmed with a partial respon… (full text at CIViC)

PMID 32743370 · Morinaga et al., 2019 · Open in CIViC

ZNF217 was overexpressed in 60% of ovarian tumour samples (26/44) as demonstrated by immunohistochemistry (IHC). Patients with ZNF217 expression had significantly shorter disease-free survival compare… (full text at CIViC)

PMID 25031722 · Li et al., 2014 · Open in CIViC