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

- 27/11/2024 - 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

dbGaP phs001175 CTSP: Clinical Trial Sequencing Project - pht007755.v2.p2

- 02/06/2023 - 2 Formulários, 1 Grupo de itens, 3 Elementos de dados, 1 Idioma
Grupo de itens: pht007755
Principal Investigator: Jean Claude Zenklusen, PhD, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA MeSH: Breast,Carcinoma, Renal Cell,Lymphoma, Large B-Cell, Diffuse https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001175 For the Clinical Trials Sequencing Project (CTSP), National Cancer Institute (NCI) will utilize whole genome sequencing and/or whole exome sequencing in conjunction with transcriptome sequencing to try to identify recurrent genetic alterations (mutations, deletions, amplifications, rearrangements) and/or gene expression signatures that would be important to the hypothesis(es) submitted by the investigators. The samples will be processed and submitted for genomic characterization using pipelines and procedures established within The Cancer Genome Analysis (TCGA) project. Data analysis will be performed as a collaboration between the National Clinical Trials Network (NCTN) Group and its investigators submitting the proposal. The investigators at the NCI-sponsored Genomic Data Analysis Center (GDAC) will characterize the samples. The NCTN Group will be responsible for providing the clinical data needed for the proposal to the open clinical system maintained by NCI CCG's Biospecimen Core Resource (BCR) at Nationwide Children's Hospital in Columbus, Ohio. The project team (Network Group/investigators and GDAC) will analyze the data together. Additionally, clinical and genomic data related to the analyses will also need to be registered by NCI and will be made available to qualified researchers via a controlled-access database (e.g., dbGaP) upon publication of the primary analysis described in the study proposal. A substudy description and its molecular data information are provided under its own page: phs001184 CTSP Diffuse Large B-Cell Lymphoma (DLBCL) CALGB 50303

pht007756.v2.p2

1 Grupo de itens 3 Elementos de dados

Eligibility B-Cell Lymphoma N1085 NCT01334502

- 20/09/2021 - 1 Formulário, 5 Grupos de itens, 74 Elementos de dados, 1 Idioma
Grupos de itens: Inclusion Criteria - All responses in section below must be "Yes" unless specified as "NA"., Exclusion Criteria, Registration Check, Registration Check, Grouping Factor
N1085 Eligibility Checklist Everolimus, Rituximab, and Combination Chemotherapy in Treating Patients With Newly Diagnosed Untreated Diffuse Large B-Cell Lymphoma Source Form: NCI FormBuilder: https://formbuilder.nci.nih.gov/FormBuilder/formDetailsAction.do?method=getFormDetails&formIdSeq=9EAFF494-0322-469D-E040-BB89AD43599E

Eligibility Newly Diagnosed Diffuse Large B-Cell Lymphoma NCT01854372

- 22/01/2021 - 1 Formulário, 2 Grupos de itens, 28 Elementos de dados, 1 Idioma
Grupos de itens: Inclusion Criteria, Exclusion Criteria
Rituximab-HyperCVAD (R-HCVAD) Alternating With Rituximab-Methotrexate-Cytarabine- (R-MC) in Newly Diagnosed Patients With Diffuse Large B-Cell Lymphoma With MYC-Rearrangement.; ODM derived from: https://clinicaltrials.gov/show/NCT01854372

Eligibility Lymphoma, Large B-Cell, Diffuse NCT01156259

- 24/07/2020 - 1 Formulário, 2 Grupos de itens, 15 Elementos de dados, 1 Idioma
Grupos de itens: Inclusion Criteria, Exclusion Criteria
30Gy Versus 40Gy Involved-field Radiotherapy for Localized Diffuse Large B Cell Lymphoma Achieving CR After Chemotherapy; ODM derived from: https://clinicaltrials.gov/show/NCT01156259

Eligibility Diffuse Large Cell B-lymphoma NCT01325701

- 01/12/2019 - 1 Formulário, 2 Grupos de itens, 21 Elementos de dados, 1 Idioma
Grupos de itens: Inclusion Criteria, Exclusion Criteria
Safety and Efficacy Study of Bruton's Tyrosine Kinase Inhibitor in Subjects With Relapsed or Refractory Diffuse Large B-cell Lymphoma; ODM derived from: https://clinicaltrials.gov/show/NCT01325701

Eligibility Diffuse Large B-cell Lymphoma, Mantle Cell Lymphoma, Follicular Lymphoma NCT01693614

- 01/12/2019 - 1 Formulário, 2 Grupos de itens, 15 Elementos de dados, 1 Idioma
Grupos de itens: Inclusion Criteria, Exclusion Criteria
Safety and Efficacy of BKM120 in Relapsed and Refractory NHL; ODM derived from: https://clinicaltrials.gov/show/NCT01693614

Eligibility Diffuse Large B-cell Lymphoma NCT02412267

- 01/12/2019 - 1 Formulário, 2 Grupos de itens, 25 Elementos de dados, 1 Idioma
Grupos de itens: Inclusion Criteria, Exclusion Criteria
Study of Ofatumomab in Combination With ICE-chemotherapy in Patients With Diffuse Large B-cell Lymphoma (DLBCL); ODM derived from: https://clinicaltrials.gov/show/NCT02412267

Eligibility Diffuse Large B-cell Lymphoma NCT02268045

- 30/11/2019 - 1 Formulário, 2 Grupos de itens, 31 Elementos de dados, 1 Idioma
Grupos de itens: Inclusion Criteria, Exclusion Criteria
Study of RTXM83 Plus CHOP Chemotherapy Versus a Rituximab Plus CHOP Therapy in Patients With Non Hodgkin's Lymphoma; ODM derived from: https://clinicaltrials.gov/show/NCT02268045

Eligibility Diffuse Large B-cell Lymphoma NCT01852435

- 30/11/2019 - 1 Formulário, 2 Grupos de itens, 26 Elementos de dados, 1 Idioma
Grupos de itens: Inclusion Criteria, Exclusion Criteria
R-CEOP-90/R-CEOP-70 Versus R-CHOP-50 in the Treatment of Diffuse Large B-cell Lymphoma and Follicular Lymphoma Grade 3B; ODM derived from: https://clinicaltrials.gov/show/NCT01852435

Eligibility Diffuse Large B-cell Lymphoma NCT01622439

- 29/11/2019 - 1 Formulário, 1 Grupo de itens, 14 Elementos de dados, 1 Idioma
Grupo de itens: Inclusion Criteria
Valproate as First Line Therapy in Combination With Rituximab and CHOP in Diffuse Large B-cell Lymphoma; ODM derived from: https://clinicaltrials.gov/show/NCT01622439

Eligibility Diffuse Large B-Cell Lymphoma NCT01499303

- 29/11/2019 - 1 Formulário, 2 Grupos de itens, 10 Elementos de dados, 1 Idioma
Grupos de itens: Inclusion Criteria, Exclusion Criteria
Study to Learn if 200mg Test Drug (Fostamatinib) Helps People With Large B-Cell Lymphoma,a Type of Blood Cancer; ODM derived from: https://clinicaltrials.gov/show/NCT01499303

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