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98 Resultados da pesquisa.

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

- 27.11.24 - 5 Formulários, 1 Grupo de itens, 1 Elemento de dados, 1 Idioma

Grupo de itens: 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 Grupo de itens 5 Elementos de dados

pht004835.v1.p1

1 Grupo de itens 5 Elementos de dados

pht004836.v1.p1

1 Grupo de itens 16 Elementos de dados

pht004837.v1.p1

1 Grupo de itens 5 Elementos de dados

Laboratory Visit 06 SirTac NCT02936388 - Laboratory Visit 06

- 31.01.22 - 1 Formulário, 1 Grupo de itens, 29 Elementos de dados, 1 Idioma

Grupo de itens: Laboratory

Study part: Laboratory Visit 06. A Randomized Phase II Trial of Transarterial Radioembolisation With Yttrium-90 (SIRT) in Comparison to Transarterial Chemoembolisation With Cisplatin (TACE) in Patients With Liver Metastases From Uveal Melanoma. Provided by Prof. Dr. Ulrich Keilholz, Charité – University of medicine Berlin. EudraCT-Nummer: 2014-002439-32. NCT02936388.

Laboratory Visit 01 SirTac NCT02936388 - Laboratory Visit 01

- 31.01.22 - 1 Formulário, 1 Grupo de itens, 29 Elementos de dados, 1 Idioma

Grupo de itens: Laboratory

Study part: Laboratory Visit 01. A Randomized Phase II Trial of Transarterial Radioembolisation With Yttrium-90 (SIRT) in Comparison to Transarterial Chemoembolisation With Cisplatin (TACE) in Patients With Liver Metastases From Uveal Melanoma. Provided by Prof. Dr. Ulrich Keilholz, Charité – University of medicine Berlin. EudraCT-Nummer: 2014-002439-32. NCT02936388.

Laboratory 6- Weeks Visits SirTac NCT02936388 - Laboratory 6- Weeks Visits

- 31.01.22 - 1 Formulário, 1 Grupo de itens, 29 Elementos de dados, 1 Idioma

Grupo de itens: Laboratory

Study part: Laboratory 6- Weeks Visits. A Randomized Phase II Trial of Transarterial Radioembolisation With Yttrium-90 (SIRT) in Comparison to Transarterial Chemoembolisation With Cisplatin (TACE) in Patients With Liver Metastases From Uveal Melanoma. Provided by Prof. Dr. Ulrich Keilholz, Charité – University of medicine Berlin. EudraCT-Nummer: 2014-002439-32. NCT02936388.

Laboratory Visit 08 SirTac NCT02936388 - Laboratory Visit 08

- 31.01.22 - 1 Formulário, 1 Grupo de itens, 29 Elementos de dados, 1 Idioma

Grupo de itens: Laboratory

Study part: Laboratory Visit 08. A Randomized Phase II Trial of Transarterial Radioembolisation With Yttrium-90 (SIRT) in Comparison to Transarterial Chemoembolisation With Cisplatin (TACE) in Patients With Liver Metastases From Uveal Melanoma. Provided by Prof. Dr. Ulrich Keilholz, Charité – University of medicine Berlin. EudraCT-Nummer: 2014-002439-32. NCT02936388.

Laboratory Visit 05 SirTac NCT02936388 - Laboratory Visit 05

- 31.01.22 - 1 Formulário, 1 Grupo de itens, 29 Elementos de dados, 1 Idioma

Grupo de itens: Laboratory

Study part: Laboratory Visit 05. A Randomized Phase II Trial of Transarterial Radioembolisation With Yttrium-90 (SIRT) in Comparison to Transarterial Chemoembolisation With Cisplatin (TACE) in Patients With Liver Metastases From Uveal Melanoma. Provided by Prof. Dr. Ulrich Keilholz, Charité – University of medicine Berlin. EudraCT-Nummer: 2014-002439-32. NCT02936388.

Laboratory Visit 04 SirTac NCT02936388 - Laboratory Visit 04

- 31.01.22 - 1 Formulário, 1 Grupo de itens, 29 Elementos de dados, 1 Idioma

Grupo de itens: Laboratory

Study part: Laboratory Visit 04. A Randomized Phase II Trial of Transarterial Radioembolisation With Yttrium-90 (SIRT) in Comparison to Transarterial Chemoembolisation With Cisplatin (TACE) in Patients With Liver Metastases From Uveal Melanoma. Provided by Prof. Dr. Ulrich Keilholz, Charité – University of medicine Berlin. EudraCT-Nummer: 2014-002439-32. NCT02936388.

Laboratory Visit 07 SirTac NCT02936388 - Laboratory Visit 07

- 31.01.22 - 1 Formulário, 1 Grupo de itens, 29 Elementos de dados, 1 Idioma

Grupo de itens: Laboratory

Study part: Laboratory Visit 07. A Randomized Phase II Trial of Transarterial Radioembolisation With Yttrium-90 (SIRT) in Comparison to Transarterial Chemoembolisation With Cisplatin (TACE) in Patients With Liver Metastases From Uveal Melanoma. Provided by Prof. Dr. Ulrich Keilholz, Charité – University of medicine Berlin. EudraCT-Nummer: 2014-002439-32. NCT02936388.

Laboratory Visit 03 SirTac NCT02936388 - Laboratory Visit 03

- 31.01.22 - 1 Formulário, 1 Grupo de itens, 29 Elementos de dados, 1 Idioma

Grupo de itens: Laboratory

Study part: Laboratory Visit 03. A Randomized Phase II Trial of Transarterial Radioembolisation With Yttrium-90 (SIRT) in Comparison to Transarterial Chemoembolisation With Cisplatin (TACE) in Patients With Liver Metastases From Uveal Melanoma. Provided by Prof. Dr. Ulrich Keilholz, Charité – University of medicine Berlin. EudraCT-Nummer: 2014-002439-32. NCT02936388.

Laboratory Before every SIRT- or TACE- Treatment SirTac NCT02936388 - Laboratory Before every SIRT- or TACE- Treatment

- 31.01.22 - 1 Formulário, 1 Grupo de itens, 29 Elementos de dados, 1 Idioma

Grupo de itens: Laboratory

Study part: Laboratory Before every SIRT- or TACE- Treatment. A Randomized Phase II Trial of Transarterial Radioembolisation With Yttrium-90 (SIRT) in Comparison to Transarterial Chemoembolisation With Cisplatin (TACE) in Patients With Liver Metastases From Uveal Melanoma. Provided by Prof. Dr. Ulrich Keilholz, Charité – University of medicine Berlin. EudraCT-Nummer: 2014-002439-32. NCT02936388.

Laboratory Screening Day -7 to 0 SirTac NCT02936388 - Laboratory Screening Day -7 to 0

- 31.01.22 - 1 Formulário, 1 Grupo de itens, 28 Elementos de dados, 1 Idioma

Grupo de itens: Laboratory

Study part: Laboratory Screening Day -7 to 0. A Randomized Phase II Trial of Transarterial Radioembolisation With Yttrium-90 (SIRT) in Comparison to Transarterial Chemoembolisation With Cisplatin (TACE) in Patients With Liver Metastases From Uveal Melanoma. Provided by Prof. Dr. Ulrich Keilholz, Charité – University of medicine Berlin. EudraCT-Nummer: 2014-002439-32. NCT02936388.

Laboratory Screening Day -7 to 0 SirTac NCT02936388 - Laboratory Screening Day -7 to 0

- 31.01.22 - 1 Formulário, 1 Grupo de itens, 28 Elementos de dados, 1 Idioma

Grupo de itens: Laboratory

Study part: Laboratory Screening Day -7 to 0. A Randomized Phase II Trial of Transarterial Radioembolisation With Yttrium-90 (SIRT) in Comparison to Transarterial Chemoembolisation With Cisplatin (TACE) in Patients With Liver Metastases From Uveal Melanoma. Provided by Prof. Dr. Ulrich Keilholz, Charité – University of medicine Berlin. EudraCT-Nummer: 2014-002439-32. NCT02936388.

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