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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

dbGaP phs000744 Yale Center for Mendelian Genomics (Y CMG) - pht003977.v4.p2

- 11/12/2022 - 5 Formulare, 1 Itemgruppe, 5 Datenelemente, 1 Sprache

Itemgruppe: pht003977

Principal Investigator: Richard Lifton, Yale University, New Haven, CT, USA MeSH: Familial Idiopathic Pulmonary Fibrosis,Aortic Coarctation,Aortic Stenosis, Supravalvular,Aortic Valve, Bicuspid,Arteries,Blepharophimosis,Bronchiectasis,Carcinoma, Renal Cell,Cardiomyopathies,Ciliary Motility Disorders,Cleft Palate,Congenital Abnormalities,Diaphragmatic Hernia,Ductus Arteriosus, Patent,Gastroschisis,Heart Defects, Congenital,Heart Septal Defects, Atrial,Heart Valve Diseases,Hemangioma,Hereditary Sensory and Autonomic Neuropathies,Hydrocephalus,Hyper-IgM Immunodeficiency Syndrome,Hyperaldosteronism,Hypertension,Ichthyosiform Erythroderma, Congenital,Idiopathic Pulmonary Fibrosis,Lung Diseases, Interstitial,Muscular Atrophy, Spinal,Neuroblastoma,Pneumothorax,Pulmonary Atresia,Pulmonary Valve Stenosis,Rett Syndrome,Spina Bifida,Tetralogy of Fallot,Transposition of Great Vessels,Tricuspid Atresia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000744 Yale University is home to one of three national centers created by the NIH to study the genetics of rare inherited diseases. Researchers at Yale, the University of Washington, and a center operated jointly by Baylor and Johns Hopkins University will analyze the genomes of thousands of patients who suffer from more than 6,000 rare Mendelian disorders affecting more than 25 million individuals in US. The Centers for Mendelian Genomics will apply next-generation sequencing and computational approaches to discover the genes and variants that underlie Mendelian disorders. The discovery of new genes that cause Mendelian conditions will expand our understanding about their biology to facilitate their diagnosis, and potentially indicate new treatments. The Centers for Mendelian Genomics will provide free exome sequencing and analysis to collaborating investigators for qualified phenotypes. If you are interested in working with the CMG to discover the genetic basis of a Mendelian condition, please contact Yale Center (shrikant.mane@yale.edu) for further information.

pht003978.v4.p2

1 Itemgruppe 3 Datenelemente

pht003979.v4.p2

1 Itemgruppe 7 Datenelemente

pht003980.v4.p2

1 Itemgruppe 2 Datenelemente

pht003976.v4.p2

1 Itemgruppe 2 Datenelemente

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