Geselecteerde datamodellen

U moet ingelogd zijn om meerdere datamodellen te selecteren en die te downloaden of te analyseren.

8 Zoekresultaten.
Relevantie Beoordeling Nieuwe eerst Oude eerst

dbGaP phs000491 Whole-Genome and Exome Sequencing in Clear-Cell Renal Cell Carcinoma - pht002697.v1.p1

- 10/17/22 - 5 Formulieren, 1 Itemgroep, 3 Data-elementen, 1 Taal
Itemgroep: pht002697
Principal Investigator: James Brugarolas, MD, PhD, UT Southwestern Medical Center, Dallas, TX, USA MeSH: Carcinoma, Renal Cell,Urogenital Neoplasms,Urologic Diseases https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000491 Study to evaluate the molecular genetics of ccRCC through integrative analyses of tumors and tumorgrafts using multiple platforms in clinically annotated samples. Genome and exome data for patients giving consent to have the information available on a public, secure, database is being submitted.

pht002698.v1.p1

1 Itemgroep 3 Data-elementen

pht002699.v1.p1

1 Itemgroep 12 Data-elementen

pht002700.v1.p1

1 Itemgroep 10 Data-elementen

pht002706.v1.p1

1 Itemgroep 2 Data-elementen

dbGaP phs000942 Use of WGS for Diagnosis and Discovery in the Cancer Genetics Clinic - Eligibility

- 11/27/24 - 5 Formulieren, 1 Itemgroep, 1 Data-element, 1 Taal
Itemgroep: IG.elig
Principal Investigator: Theodora S. Ross, MD, PhD, Department of Internal Medicine, UT Southwestern Medical Center, Dallas, TX, USA, and Department of Cancer Genetics, UT Southwestern Medical Center, Dallas, TX, USA MeSH: Neoplasms,Breast Neoplasms,Ovarian Neoplasms,Peritoneal Neoplasms,Skin Neoplasms,Esophageal Neoplasms,Thyroid Neoplasms,Urinary Bladder Neoplasms,Endometrial Neoplasms,Fallopian Tube Neoplasms,Melanoma,Testicular Neoplasms,Bile Duct Neoplasms,Lung Neoplasms,Colonic Neoplasms,Adrenocortical Carcinoma,Carcinoma, Renal Cell,Colonic Polyps,Adenomatous Polyposis Coli,Lymphoma, Large B-Cell, Diffuse,Pheochromocytoma,Paraganglioma,Leiomyoma,Hemangioblastoma,Hyperparathyroidism,Pancreatic Neoplasms,Vulvar Neoplasms,Brain Neoplasms,Liver Neoplasms,Kidney Neoplasms,Prostatic Neoplasms,Glioblastoma,Oncocytoma, renal https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000942 Despite the potential of whole-genome sequencing (WGS) to improve patient diagnosis and care, the empirical value of WGS in the cancer genetics clinic is unknown. We performed WGS on members of two cohorts of cancer genetics patients: those with BRCA1/2 mutations (n = 176) and those without (n = 82). Initial analysis of potentially pathogenic variants (PPVs, defined as nonsynonymous variants with allele frequency 1% in ESP6500) in 163 clinically-relevant genes suggested that WGS will provide useful clinical results. This is despite the fact that a majority of PPVs were novel missense variants likely to be classified as variants of unknown significance (VUS). Furthermore, previously reported pathogenic missense variants did not always associate with their predicted diseases in our patients. This suggests that the clinical use of WGS will require large-scale efforts to consolidate WGS and patient data to improve accuracy of interpretation of rare variants. While loss-of-function (LoF) variants represented only a small fraction of PPVs, WGS identified additional cancer risk LoF PPVs in patients with known BRCA1/2 mutations and led to cancer risk diagnoses in 21% of non-BRCA cancer genetics patients after expanding our analysis to 3209 ClinVar genes. These data illustrate how WGS can be used to improve our ability to discover patients' cancer genetic risks. "Reprinted from doi:10.1016/j.ebiom.2014.12.003, with permission from EBioMedicine."

pht004834.v1.p1

1 Itemgroep 5 Data-elementen

pht004835.v1.p1

1 Itemgroep 5 Data-elementen

pht004836.v1.p1

1 Itemgroep 16 Data-elementen

pht004837.v1.p1

1 Itemgroep 5 Data-elementen

dbGaP phs001271 Pooled Genome-Wide Analysis of Kidney Cancer Risk (KIDRISK) - pht006116.v1.p1

- 3/20/23 - 5 Formulieren, 1 Itemgroep, 4 Data-elementen, 1 Taal
Itemgroep: pht006116
Principal Investigator: Ghislaine Scélo, PhD, International Agency for Research on Cancer (IARC), Lyon, France MeSH: Carcinoma, Renal Cell,Kidney Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001271 Incidence rates of renal cell carcinoma (RCC) are rising and the latest estimates show that it accounts for over 300,000 cases and 120,000 deaths worldwide each year. Mechanisms underlying RCC occurrence are not fully understood and a large part of the disease heritability remains unexplained. The study aimed at augmenting the size of available RCC genome-wide association studies to increase the statistical power to detect genetic variants associated with the disease. The study includes genome-wide genotyping data from RCC cases (n=2,781) and controls (n=2,526) recruited in Western Europe, Central and Eastern Europe, and Australia.

pht006117.v1.p1

1 Itemgroep 3 Data-elementen

pht006118.v1.p1

1 Itemgroep 4 Data-elementen

pht006119.v1.p1

1 Itemgroep 6 Data-elementen

Eligibility

1 Itemgroep 1 Data-element

dbGaP phs000351 NCI Genome-Wide Association Study of Renal Cell Carcinoma - pht002205.v1.p1

- 10/12/22 - 4 Formulieren, 1 Itemgroep, 2 Data-elementen, 1 Taal
Itemgroep: pht002205
Principal Investigator: Mark Purdue, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department Health and Human Services, Bethesda, MD, USA MeSH: Carcinoma, Renal Cell,Kidney Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000351 The National Cancer Institute (NCI) genome-wide association study (GWAS) of renal cell carcinoma (RCC) was conducted to investigate common genetic variants associated with RCC risk. The GWAS includes 1,453 RCC cases and 3,531 controls of European background from 4 studies (3 cohort, 1 case-control), scanned using the Illumina InfiniumHumanHap 550, 610 and 660W chips. This project was supported by the Intramural Research Program of the National Institutes of Health and NCI. Data from this GWAS were pooled with those from another GWAS of RCC (2,639 cases and 5,392 controls) conducted in Europe by the International Agency for Research on Cancer and the Centre National de Gènotypage. Findings from this collaboration are described in an upcoming report (Purdue et al. Nature Genetics 2011;43(1):60-65; PMID: 21131975). Only data from the NCI scan are included in this dbGaP submission.

pht002206.v1.p1

1 Itemgroep 4 Data-elementen

Eligibility

1 Itemgroep 4 Data-elementen

pht002204.v1.p1

1 Itemgroep 3 Data-elementen

Eligibility DRKS00004096 NCT00688753 Carcinoma - Eligibility

- 9/20/21 - 1 Formulier, 2 Itemgroepen, 23 Data-elementen, 2 Talen
Itemgroepen: Inclusion Criteria, Exclusion Criteria
ODM derived from http://clinicaltrials.gov/show/NCT00688753

Eligibility Criteria NCT00044564 - Eligibility

- 9/17/21 - 1 Formulier, 2 Itemgroepen, 7 Data-elementen, 1 Taal
Itemgroepen: Inclusion criteria, Exclusion criteria

Eligibility Carcinoma, Renal Cell NCT00502034

- 1/13/16 - 1 Formulier, 2 Itemgroepen, 10 Data-elementen, 1 Taal
Itemgroepen: Inclusion Criteria, Exclusion Criteria
Low-dose IL-2 Plus IFN-alpha Immunotherapy as Adjuvant Treatment of Renal Carcinoma.; ODM derived from: https://clinicaltrials.gov/show/NCT00502034

Eligibility NCT00796757 Renal Cell Cancer - Eligibility

- 12/9/13 - 1 Formulier, 2 Itemgroepen, 10 Data-elementen, 2 Talen
Itemgroepen: Inclusion Criteria, Exclusion Criteria
ODM derived from http://clinicaltrials.gov/show/NCT00796757

Help

Do you need help on how to use the search function? Please watch the corresponding tutorial video for more details and learn how to use the search function most efficiently.

Watch Tutorial