Trefwoorden
Cancer, Endometrial ×
Inhoudsopgave
  1. 1. Klinische studie
  2. 2. Routinedocumentatie
  3. 3. Register-/kohortstudies
  4. 4. Kwaliteitswaarborging
  5. 5. Datastandaard
  6. 6. Patiëntenvragenlijst
  7. 7. Medisch vakgebied
Geselecteerde datamodellen

U moet ingelogd zijn om meerdere datamodellen te selecteren en die te downloaden of te analyseren.

- 29-01-25 - 5 Formulieren, 1 Itemgroep, 5 Data-elementen, 1 Taal
Itemgroep: pht004420
Principal Investigator: Daphne W. Bell, PhD, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA MeSH: Endometrial Carcinomas https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000841 The purpose of the original study was to search for somatic mutations in the tyrosine kinome of serous and clear cell endometrial carcinomas (human). The study was conducted in two phases. Phase 1: A mutation discovery screen, in which ~577 exons encoding the catalytic domains of 86 tyrosine kinases were PCR-amplified and bidirectionally Sanger sequenced from 24 serous, 11 clear cell, and 5 mixed histology endometrial tumors. This was followed by alignment of sequence reads to the human reference sequence and subsequent nucleotide variant calling to identify potential somatic (tumor-specific) mutations. Potential somatic mutations were confirmed by re-amplification and sequencing of the relevant tumor DNA as well as matched non-tumor ("normal") DNA from the same case. Phase 2: A mutation prevalence screen, in which the non-catalytic regions two tyrosine kinase genes, TNK2 and DDR1, were PCR-amplified and sequenced from the 40 discovery screen tumors, and all coding exons of TNK2 and DDR1 were PCR-amplified and sequenced from another 10 clear cell, 21 serous, and 41 endometrioid endometrial tumors, in an effort to identify additional somatic mutations in each gene. Exons encoding the exonuclease domain of POLE were also sequenced to document somatic mutations.

pht004421.v1.p1

1 Itemgroep 4 Data-elementen

pht004422.v1.p1

1 Itemgroep 12 Data-elementen

Eligibility

1 Itemgroep 4 Data-elementen

pht004419.v1.p1

1 Itemgroep 3 Data-elementen
- 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
- 02-04-24 - 6 Formulieren, 1 Itemgroep, 3 Data-elementen, 1 Taal
Itemgroep: pht005501

pht005502.v1.p1

1 Itemgroep 15 Data-elementen

pht005503.v1.p1

1 Itemgroep 8 Data-elementen

pht005504.v1.p1

1 Itemgroep 4 Data-elementen

Eligibility

1 Itemgroep 2 Data-elementen

pht005500.v1.p1

1 Itemgroep 4 Data-elementen

Do you need help on how to use the search function? Please watch the corresponding tutorial video for more details and learn how to use the search function most efficiently.

Watch Tutorial