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- 2024-11-27 - 5 Formulär, 1 Item-grupp, 1 Dataelement, 1 Språk
Item-grupp: 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 Item-grupp 5 Dataelement

pht004835.v1.p1

1 Item-grupp 5 Dataelement

pht004836.v1.p1

1 Item-grupp 16 Dataelement

pht004837.v1.p1

1 Item-grupp 5 Dataelement
- 2023-10-08 - 5 Formulär, 1 Item-grupp, 5 Dataelement, 1 Språk
Item-grupp: pht005119

pht005120.v1.p1

1 Item-grupp 5 Dataelement

pht005121.v1.p1

1 Item-grupp 6 Dataelement

pht005122.v1.p1

1 Item-grupp 7 Dataelement

Eligibility

1 Item-grupp 1 Dataelement
- 2023-02-09 - 5 Formulär, 1 Item-grupp, 8 Dataelement, 1 Språk
Item-grupp: IG.elig

pht006701.v2.p2

1 Item-grupp 2 Dataelement

pht006702.v2.p2

1 Item-grupp 2 Dataelement

pht006703.v2.p2

1 Item-grupp 6 Dataelement

pht006704.v2.p2

1 Item-grupp 11 Dataelement
- 2023-01-06 - 9 Formulär, 1 Item-grupp, 5 Dataelement, 1 Språk
Item-grupp: pht003882
Principal Investigator: David A. Wheeler, PhD, Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA MeSH: Neoplasms,Brain Neoplasms,Germinoma,Neoplasms, Germ Cell and Embryonal,Endodermal Sinus Tumor,Teratoma,Carcinoma, Embryonal,Choriocarcinoma,Polycythemia Vera,Craniopharyngioma https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000725 A large proportion of common cancers affecting patients around the world have been selected for comprehensive cancer genome studies. Further efforts will be needed to tackle the remaining tumor types, including the rare forms of cancers. Although rare, these cancers tend to be more aggressive and fast growing with an early recurrence following initial chemotherapy and poor prognosis. Besides, patients diagnosed with rare cancers may have difficulty finding a physician knowledgeable in treating their type of cancer. While sample collection is a major challenge, the integrated genomic analyses would identify novel causative genes in these rare cancers, shed new light on the biology of the rare cancers, as well as guide novel targeted cancer therapies. Through efficient collaboration, the Human Genome Sequencing Center (HGSC) at Baylor College of Medicine (BCM) has collected/is expected to collect 20 different types of rare cancers, 15-30 cases each. Whole-exome sequencing and high-resolution SNP array analysis were/will be performed for all cases and whole-genome sequencing was designed for a selected subset of the cases. *The Rare Cancer Tumors Cohort is utilized in the following dbGaP sub-studies.* To view genotypes, other molecular data, and derived variables collected in this sub-study, please click on the following sub-study below or in the "Sub-studies" section of this top-level study page phs000725 Rare Cancer Tumors Cohort.- phs000754 Intracranial Germ Cell Tumors - phs000861 Craniopharyngioma Tumors - phs000859 Sezary Syndrome Genomic Analysis

pht003885.v2.p1

1 Item-grupp 3 Dataelement

pht003886.v2.p1

1 Item-grupp 5 Dataelement

pht004475.v2.p1

1 Item-grupp 4 Dataelement

pht004476.v2.p1

1 Item-grupp 6 Dataelement

pht004585.v2.p1

1 Item-grupp 5 Dataelement

Eligibility

1 Item-grupp 1 Dataelement

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