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

- 27.11.24 - 5 Formulieren, 1 Itemgroep, 1 Data-element, 1 Taal
Itemgroep: 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 Itemgroep 5 Data-elementen

pht004835.v1.p1

1 Itemgroep 5 Data-elementen

pht004836.v1.p1

1 Itemgroep 16 Data-elementen

pht004837.v1.p1

1 Itemgroep 5 Data-elementen

KBV Early Detection of Cancer Template 40

- 14.09.17 - 1 Formulier, 3 Itemgroepen, 29 Data-elementen, 1 Taal
Itemgroepen: Header, Medical History, Finding
Muster 40 - Krebsfrüherkennung - Männer (Freigabe 01.09.2014). Formulare für die vertragsärztliche Versorgung - Freigabe durch Dezernat 4 - Ärztliche Leistungen und Versorgungsstruktur Geschäftsbereich Sicherstellung und Versorgungsstruktur Abteilung Sicherstellung Herbert-Lewin-Platz 2 10623 Berlin Tel: + 49 (0) 30 - 4005 -1418 Fax: + 49 (0) 30 - 4005 - 271418 Email: SJohn@KBV.de Web: www.kbv.de Quelle: http://www.kbv.de/html/formulare.php --- Template 40 - Early Detection of Cancer (Released 09-01-2014). Released by Department 4 - Medical treatment and structure of supply, division ensurance and structure of supply, department ensurance Herbert-Lewin-Platz 2 10623 Berlin Tel: + 49 (0) 30 - 4005 -1418 Fax: + 49 (0) 30 - 4005 - 271418 Email: SJohn@KBV.de Web: www.kbv.de Source: http://www.kbv.de/html/formulare.php

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