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dbGaP phs001179 Foundation Medicine Adult Cancer Clinical Dataset (FM-AD) - Eligibility

- 29-05-23 - 3 moduli, 1 ItemGroup, 1 elemento, 1 linguaggio
ItemGroup: IG.elig
Principal Investigator: Doron Lipson, PhD, Foundation Medicine Inc., Cambridge, MA, USA MeSH: Neoplasms,Thoracic Neoplasms,Digestive System Neoplasms,Breast Neoplasms,Urogenital Neoplasms,Endocrine Gland Neoplasms,Nervous System Neoplasms,Skin Neoplasms,Head and Neck Neoplasms,Abdominal Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001179 The Foundation Medicine adult cancer clinical dataset consists of 18,004 unique solid tumor samples that underwent genomic profiling on a single uniform platform as part of standard clinical care. The dataset is derived from the FoundationOne® genomic profiling assay version 2 that interrogates exonic regions of 287 cancer-related genes and selected introns from 19 genes known to undergo rearrangements in human cancer. Genomic DNA samples were sequenced to over 500x median coverage, and custom computational analyses identified all classes of genomic alterations (base substitutions, insertions and deletions, copy number alterations, and rearrangements). Since matched normal tissue was unavailable for analysis, these data underwent additional filtering to enrich for cancer-related events. The reported data includes genomic alterations that are known and suspected tumor drivers, as well as variants of unknown significance. To preserve patient anonymity, all known or suspected germline variants were removed from the data unless known to be associated with cancer development. The dataset contains genomic alteration profiles generated by FoundationOne version 2 testing for adult cancer patients (over 18 y.o.), and represents a vast diversity of tumor subtypes, including many rare diseases not profiled as part of large-scale profiling efforts. Cases are grouped into 16 broad disease categories containing tumors from 162 unique disease subtypes. Since specimens were profiled as part of clinical care, limited clinical parameters were available, including age, gender, tissue of origin, % of tumor nuclei, and diagnosis. Publication of this dataset is intended to allow the broad scientific community access to this unique cohort for use in scientific research projects of common and rare types of cancer, both for generating leads regarding causal mechanisms as well as cross-testing and confirming existing hypotheses. A pediatric cancer clinical dataset consisting of data from 1,215 patients under 18 y.o. is available separately at: FOUNDATION MEDICINE

pht005673.v1.p1

1 ItemGroup 2 elementi

pht005668.v1.p1

1 ItemGroup 2 elementi

dbGaP phs000827 N.C. Clinical Genomic Evaluation by NextGen Exome Sequencing (NCGENES) - Eligibility

- 04-03-24 - 5 moduli, 1 ItemGroup, 8 elementi, 1 linguaggio
ItemGroup: IG.elig
Principal Investigator: James P. Evans, MD, PhD, University of North Carolina, Chapel Hill, NC, USA MeSH: Genetic Diseases, Inborn,Neoplasms,Adenomatous Polyposis Coli,Microcephaly,Aortic Aneurysm, Thoracic,Peripheral Nervous System Diseases,Cardiomyopathies,Leukodystrophy, Globoid Cell,Seizures,Mitochondria,Inflammation,Autoimmune Diseases,Progeria,Retina,Muscular Diseases,Rhabdomyolysis,Arrhythmias, Cardiac,Osteochondrodysplasias,Intellectual disability,Autistic Disorder,Neuromuscular Diseases,Paraplegia,Central Nervous System Diseases,Cholestasis,Anemia,Genetic Testing https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000827 North Carolina Clinical Genomic Evaluation by Next-generation Exome Sequencing This study is part of a larger consortium project investigating the validity and best use of next-generation sequencing (in particular, whole exome sequencing, or WES) in clinical care. Participants are patients who were either seen in the UNC Cancer and Adult Genetics Clinic or referred to the study by their physician. They will be approached by their physician or a genetic counselor for recruitment. Once enrolled, a clinical geneticist or genetic counselor will obtain consent and collect blood samples to be analyzed using WES. Results may include information related to a diagnosis and incidental information. Medically actionable incidental findings will be CLIA-certified and returned to participants in a routine genetic counseling session, along with diagnostic findings. Eligible adult participants will be randomized to have the opportunity to choose to get certain types of non-medically actionable incidental findings, as well. Their decisions will be investigated, as will psychosocial and behavioral responses to sequencing and receiving sequencing information. This is a longitudinal, mixed methods study (i.e., multiple assessments pre- and post-return of results, with both quantitative and qualitative methods used to gather data). Because only the quantitative component of the study uses randomization, only measures and procedures associated with that component are included here. The third study release includes data of additional n=189 subjects.

pht004472.v3.p1

1 ItemGroup 7 elementi

pht004469.v3.p1

1 ItemGroup 5 elementi

pht004470.v3.p1

1 ItemGroup 5 elementi

pht004471.v3.p1

1 ItemGroup 7 elementi

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