Neoplasm by Special Category

Of 65 VHL families from central Europe, 53 were identified with germline mutations. This nonsense mutation was found in 2 unrelated, German families. One VHL type 1 family of 2 affected individuals ha… (full text at CIViC)

PMID 8707293 · Glavac et al., 1996 · 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

Genotype-phenotype correlations of 573 VHL patients from 200 kindreds were analyzed. Age-related risks of retinal angiomas and renal cell carcinoma were higher in patients with nonsense or frameshift … (full text at CIViC)

PMID 17024664 · Ong et al., 2007 · 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

Plasma concentrations of Th1 and Th2 cytokines were analyzed using the Bio-Plex multiplex suspension array system in 34 homozygotes VHL patients, 4 heterozygous VHL patients, and 32 VHL wild-type part… (full text at CIViC)

PMID 19062180 · Niu et al., 2009 · 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

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

Gene symbol publication providing minimal information. A VHL gene mutation at codon 111, AGC-ATC, Ser-Ile is associated to pancreatic cancer. It is unclear if this variant is somatic or germline. It i… (full text at CIViC)

PMID 10942118 · Bradley et al., 2000 · 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

Of 65 VHL families from central Europe, 53 were identified with germline mutations. This nonsense mutation was found in 3 Italian, VHL type 1 family members. Two had retinal angiomas, 2 had hemangiobl… (full text at CIViC)

PMID 8707293 · Glavac et al., 1996 · 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

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

Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found in a Slovakian, VHL type 1 family of 13 affected individuals. Seven had retinal ang… (full text at CIViC)

PMID 8707293 · Glavac et al., 1996 · Open in CIViC

Genotype-phenotype correlations of 573 VHL patients from 200 kindreds were analyzed. This mutation was found in a VHL type 2 patient with retinal angiomas, hemangioblastomas of the central nervous sys… (full text at CIViC)

PMID 17024664 · Ong et al., 2007 · Open in CIViC

A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families. Renal cell carcinoma occurred predominantly in non… (full text at CIViC)

PMID 10761708 · Yoshida et al., 2000 · Open in CIViC

Of 65 VHL families from central Europe, 53 were identified with germline mutations. This splice mutation was found in a German, VHL type 1 patient with retinal angiomas, hemangioblastomas of the centr… (full text at CIViC)

PMID 8707293 · Glavac et al., 1996 · 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

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

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

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

Chromosomal rearrangements in germline t(3;12)(q13.13;q24.23) associated with the development of one conventional renal cell carcinomas (RCC) in a 50Y old patient. Other phenotypic and demographic dat… (full text at CIViC)

PMID 20633763 · Yusenko et al., 2010 · Open in CIViC

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

In this 2011 study the authors screened B-cell lymphomas for a FISH pattern indicating an IGH break but lacking known common partners. After identifying the t(6;14)(p25;q32) with long distance inverse… (full text at CIViC)

PMID 21487109 · Salaverria et al., 2011 · Open in CIViC

In this 2020 study the authors included twenty cases classified as IRF4 positive Large B-cell lymphomas (LBCL-IRF4). The patients were aged from 5 to 22 years (median of 14 years). All cases showed po… (full text at CIViC)

PMID 31738823 · Ramis-Zaldivar et al., 2020 · Open in CIViC

In this study, 264 of 1725 precursor B-lymphoblastic leukemia (B-ALL) cases were identified as BCR::ABL1 (Ph)-like based on the expression signature similar to the BCR::ABL1 positive B-ALL; of those 2… (full text at CIViC)

PMID 25207766 · Roberts et al., 2014 · Open in CIViC

In this study, the authors characterized 77 pediatric Ph-like B-ALL cases from the Dutch Childhood Oncology Group trials and German Cooperative ALL trials, and identified 5 cases with activated JAK si… (full text at CIViC)

PMID 27894077 · Boer et al., 2017 · Open in CIViC