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

- 27/11/2024 - 5 Formulare, 1 Itemgruppe, 1 Datenelement, 1 Sprache

Itemgruppe: 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 Itemgruppe 5 Datenelemente

pht004835.v1.p1

1 Itemgruppe 5 Datenelemente

pht004836.v1.p1

1 Itemgruppe 16 Datenelemente

pht004837.v1.p1

1 Itemgruppe 5 Datenelemente

Eligibility NCT00148213 Thyroid Neoplasms - Eligibility Thyroid Carcinoma NCT00148213

- 27/03/2014 - 1 Formular, 2 Itemgruppen, 4 Datenelemente, 1 Sprache

Itemgruppen: Inclusion Criteria, Exclusion Criteria

see http://clinicaltrials.gov/ct2/show/study/NCT00148213

Eligibility NCT00144079 # Thyroid Carcinoma - Eligibility

- 11/12/2013 - 1 Formular, 3 Itemgruppen, 31 Datenelemente, 2 Sprachen

Itemgruppen: Inclusion criteria, Exclusion criteria, Medical Concepts

The trial examines the clinical benefit of adjuvant external beam radiotherapy (RTx) for locally invasive differentiated carcinoma (TNM stages pT4 pN0/1/x M0/x; 5th ed. 1997) of the thyroid gland (DTC). Patients are treated with surgery (thyroidectomy and lymphadenectomy), radioiodine therapy (RIT) to ablate the thyroid remnant tissue, and TSH-suppressive L-thyroxine therapy with or without RTx after documented elimination of cervical I-131 uptake.

Eligibility Thyroid and Breast Tumors NCT01668238

- 20/09/2021 - 1 Formular, 3 Itemgruppen, 11 Datenelemente, 1 Sprache

Itemgruppen: Inclusion Criteria, Exclusion Criteria, Healthy Volunteers Inclusion Criteria

Detection of Benign and Malignant Thyroid and Breast Tumors by Fourier Transform Infrared Spectrometry; ODM derived from: https://clinicaltrials.gov/show/NCT01668238 Sponsor: XU Zhi Collaborator: Peking University

Thyroid gland tumor board Oncology Form University Hospital Cologne

- 08/05/2017 - 1 Formular, 1 Itemgruppe, 44 Datenelemente, 1 Sprache

Itemgruppe: Thyroid gland tumor board request

Thyroid gland tumor board request form at the endocrinology polyclinic department University Hospital Cologne. Asking questions regarding basic patient information, tumor board organisation, diagnosis and comorbidity, pathology and tumor staging as well as diagnostic imaging. ODM derived from routine documentation of University Hospital Cologne.

Oncological follow-up - PET-CT

- 04/08/2015 - 1 Formular, 12 Itemgruppen, 40 Datenelemente, 2 Sprachen

Itemgruppen: Primary diagnosis, Secondary diagnosis, Complications, Therapy: primary operation, First radioactive iodine therapy, Last radioactive iodine therapy, Radiation, Other therapy, Progression, Lab results, Iodine-131 whole-body scintigraphy, FDG-PET-CT Result

ODM form derived from PET CT Nachsorge SD Nuk UKM. Used as a routine documentation by the University Hospital Muenster, Germany.

Eligibility Thyroid Carcinoma NCT02114658

- 12/09/2018 - 1 Formular, 2 Itemgruppen, 13 Datenelemente, 1 Sprache

Itemgruppen: Inclusion Criteria, Exclusion Criteria

Sorafenib Phase II Study for Japanese Anaplastic or Medullary Thyroid Carcinoma Patients; ODM derived from: https://clinicaltrials.gov/show/NCT02114658 Sponsor: Bayer Information provided by (Responsible Party): Bayer

Eligibility Thyroid Carcinoma NCT01707056

- 03/09/2018 - 1 Formular, 2 Itemgruppen, 11 Datenelemente, 1 Sprache

Itemgruppen: Inclusion Criteria, Exclusion Criteria

The Effect of Coffee on the Absorption of Thyroid Hormone in Patients With Thyroid Carcinoma; ODM derived from: https://clinicaltrials.gov/show/NCT01707056 Sponsor: Washington Hospital Center Collaborator: Georgetown University Information provided by (Responsible Party): Washington Hospital Center Principal Investigator: Dorota Krajewski, MD Medstar

Eligibility Thyroid Cancer NCT01083550

- 03/09/2018 - 1 Formular, 3 Itemgruppen, 12 Datenelemente, 1 Sprache

Itemgruppen: Inclusion Criteria, Exclusion Criteria for Patient Participants, Inclusion Criteria for Physicians

Decision Making on Radioactive Iodine Treatment for Papillary Thyroid Cancer; ODM derived from: https://clinicaltrials.gov/show/NCT01083550 Sponsor: University Health Network, Toronto Collaborators: Ontario Ministry of Health and Long Term Care Canadian Institutes of Health Research (CIHR) Information provided by (Responsible Party): University Health Network, Toronto Principal Investigator: Annie M Sawka, MD, PhD University Health Network, Toronto Study Director: David P Goldstein, MD University Health Network, Toronto

Eligibility Thyroid Cancer, Papillary NCT01659385

- 26/08/2018 - 1 Formular, 2 Itemgruppen, 11 Datenelemente, 1 Sprache

Itemgruppen: Inclusion Criteria, Exclusion Criteria

Leptin Levels in Papillary Thyroid Cancer; ODM derived from: https://clinicaltrials.gov/show/NCT01659385

Eligibility Papillary Thyroid Cancer NCT01974284

- 05/06/2019 - 1 Formular, 2 Itemgruppen, 14 Datenelemente, 1 Sprache

Itemgruppen: Inclusion Criteria, Exclusion Criteria

Percutaneous Ethanol Injection for Primary Papillary Thyroid Microcarcinoma; ODM derived from: https://clinicaltrials.gov/show/NCT01974284

Eligibility Low-risk Papillary Thyroid Cancer NCT02408887

- 29/04/2019 - 1 Formular, 2 Itemgruppen, 17 Datenelemente, 1 Sprache

Itemgruppen: Criteria, Exclusion Criteria

Total Thyroidectomy With and Without Prophylactic Central Neck Lymph Node Dissection in People With Low-risk Papillary Thyroid Cancer; ODM derived from: https://clinicaltrials.gov/show/NCT02408887

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