Keywords
Neoplasia ×
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Table of contents
  1. 1. Klinisk studie
  2. 2. Rutindokumentation
  3. 3. Register- och kohortstudier
  4. 4. Kvalitetssäkring
  5. 5. Datastandard
  6. 6. Frågeformulär för patienter
  7. 7. Medicinsk specialitet
    1. 7.1. Anestesi
    1. 7.2. Dermatologi
    1. 7.3. HNO
    1. 7.4. Geriatrik
    1. 7.5. Gynekologi och obstetrik
    1. 7.6. Invärtes medicin
      1. Hematologi
      1. Infektionssjukdomar
      1. Kardiologi och angiologi
      1. Pneumologi
      1. Gastroenterologi
      1. Nefrologi
      1. Endokrinologi och ämnesomsättning
      1. Reumatologi
    1. 7.7. Neurologi
    1. 7.8. Oftalmologi
    1. 7.9. Palliativ medicin
    1. 7.10. Patologi och rättsmedicin
    1. 7.11. Pediatrik
    1. 7.12. Psykiatri och psykosomatik
    1. 7.13. Radiologi
    1. 7.14. Kirurgi
      1. Allmänkirurgi och bukkirurgi
      1. Neurokirurgi
      1. Plastikkirurgi
      1. Hjärt- och thoraxkirurgi
      1. Akutkirurgi och ortopedi
      1. Kärlkirurgi
    1. 7.15. Urologi
    1. 7.16. Odontologi samt mun-, käk och ansiktskirurgi
Selected data models

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- 2013-08-07 - 1 form, 8 itemgroups, 86 items, 2 languages
Itemgroups: Admininstrative Daten, Dokumentation TB Mamma, klin. TNM-Stadium, vorh. path.TNM-Stadium, TNM-Stadium der Patho, endgültiges TNM-Stadium, Geplante Therapie, Weiteres
- 2024-11-27 - 5 forms, 1 itemgroup, 1 item, 1 language
Itemgroup: 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 itemgroup 5 items

pht004835.v1.p1

1 itemgroup 5 items

pht004836.v1.p1

1 itemgroup 16 items

pht004837.v1.p1

1 itemgroup 5 items
- 2022-10-12 - 6 forms, 1 itemgroup, 3 items, 1 language
Itemgroup: IG.elig
Principal Investigator: Michael A. Province, PhD, Washington University School of Medicine, St. Louis, MO, USA MeSH: Longevity,Aging,Cardiovascular Diseases,Neoplasms,Stroke,Inflammation,Immune System,Diabetes Mellitus,Hypertension,Dyslipidemias,Lipids,Osteoporosis,Pulmonary Function Tests,Kidney Function Tests,Alzheimer Disease,Depression,Personality,Executive Function,Reproductive History https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000397 The Long Life Family Study (LLFS) is an international collaborative study of the genetics and familial components of exceptional survival, longevity, and healthy aging. Families were recruited through elderly probands (generally in their 90s) who self-reported on the survival history of their parents and siblings, and on the basis of this information, families which showed clustering of exceptional survival were recruited. [Specifically, a Family Longevity Selection Score (FLOSS) ≥7 was required. The FLOSS measures the average excess Observed lifespan over that Expected based upon lifetables, while adding a bonus term for still-living individuals. Thus FLOSS is a useful tool for scoring and selecting families for inclusion in a research study of exceptional survival (Sebastiani et al., 2009, PMID: 19910380)]. Probands resided in the catchment areas of four Field Centers (Boston University, Columbia University, University of Pittsburgh, and University of Southern Denmark). Recruited family members were phenotyped through extensive in-home visits by teams of technicians who traveled all over the USA and Denmark. Blood assays were centrally processed at a Laboratory Core (University of Minnesota) and protocols were standardized, monitored and coordinated through a Data Management Coordinating Center (Washington University). We examined and extensively phenotyped in all major domains of healthy aging, 4,953 individuals in 539 families through comprehensive in-home visits. Of these, 4,815 gave dbGaP sharing permission and had sufficient quantity/quality of DNA for GWAS genotyping. This large collection of families, selected on the basis of clustering for exceptional survival, is a unique resource for the study of human longevity and healthy aging. We estimate that less than 1% of the Framingham Heart Study (FHS) families (a roughly random population family sample) would meet the minimal entrance criteria for exceptional survival required in the LLFS (Sebastiani et al., 2009, PMID: 19910380). Thus, the least exceptional LLFS families show more clustering for exceptional longevity than 99% of the FHS families. Although the LLFS pedigrees were selected on the basis of longevity per se in the upper generation (and the generation above that), the children's generation have significantly lower rates of many major diseases and have better healthy aging profiles for many disease phenotypes (Newman et al., 2011, PMID: 21258136). The participants had their first in-person visit between 2006 and 2009. After that visit, they were contacted annually by telephone to update vital status, medical history, and general health. Between 2014 and 2017, willing participants completed a second in-person visit. The second visit followed the same protocols and centralized training as the first visit. During the second visit, a portable carotid ultrasound exam was added. Again, participants were continuously contacted annually for telephone follow-up during the period of the second in-person visit and after that. Annual telephone follow-ups currently ongoing, and plans for a third in-person visit are in progress.

pht002407.v3.p3

1 itemgroup 4 items

pht002408.v3.p3

1 itemgroup 6 items

pht002410.v3.p3

1 itemgroup 106 items

pht003356.v3.p3

1 itemgroup 4 items

pht002409.v3.p3

1 itemgroup 3 items
- 2021-09-20 - 1 form, 2 itemgroups, 13 items, 2 languages
Itemgroups: Inclusion Criteria, Exclusion Criteria

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