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Eligibility DRKS00003778 NCT00749723 Recurrent Brain Tumors - Eligibility

- 20.09.21 - 1 Formular, 1 Itemgruppe, 25 Datenelemente, 2 Sprachen

Itemgruppe: Inclusion Criteria

ODM derived from http://clinicaltrials.gov/show/NCT00749723

dbGaP phs000730 Genomics of Brain Metastases - pht005058.v1.p1

- 28.12.22 - 4 Formulare, 1 Itemgruppe, 2 Datenelemente, 1 Sprache

Itemgruppe: pht005058

Principal Investigator: Priscilla Brastianos, Broad Institute, Cambridge, MA, USA MeSH: Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000730 Brain metastases are the most frequently occurring intracranial tumors in adults. Median survival after the diagnosis of a brain metastasis is in the order of a few months. Despite its large burden of disease and devastating clinical sequelae, we continue to have a limited understanding of the molecular mechanisms driving brain metastasis. We subjected 86 trios consisting of primary tumor, brain metastasis, and matched normal tissue to whole exome sequencing (WES). To analyze the data, we developed novel computational tools to perform an integrative analysis of somatic single nucleotide variants (SSNVs) and somatic copy-number alterations (SCNAs). This analysis allowed us to estimate the clonal architecture of the primary and metastatic samples of each patient, and to reconstruct a phylogenetic tree relating all of the subclones.

Neoplasms

pht005059.v1.p1

1 Itemgruppe 3 Datenelemente

pht005060.v1.p1

1 Itemgruppe 15 Datenelemente

pht005061.v1.p1

1 Itemgruppe 4 Datenelemente

dbGaP phs000397 NIA Long Life Family Study (LLFS) - Eligibility

- 12.10.22 - 6 Formulare, 1 Itemgruppe, 3 Datenelemente, 1 Sprache

Itemgruppe: 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 Itemgruppe 4 Datenelemente

pht002408.v3.p3

1 Itemgruppe 6 Datenelemente

pht002410.v3.p3

1 Itemgruppe 106 Datenelemente

pht003356.v3.p3

1 Itemgruppe 4 Datenelemente

pht002409.v3.p3

1 Itemgruppe 3 Datenelemente

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dbGaP phs000428 Health and Retirement Study (HRS) - pht005036.v1.p2

- 29.01.25 - 6 Formulare, 1 Itemgruppe, 4 Datenelemente, 1 Sprache

Itemgruppe: pht005036

Principal Investigator: David Weir, PhD, University of Michigan, Ann Arbor, MI, USA MeSH: Aging,Neoplasms,Arthritis,Lung Diseases, Obstructive,Dementia,Heart Diseases,Heart Failure,Hypertension,Myocardial Infarction,Diabetes Mellitus,Hypercholesterolemia,Obesity,Body Weight,Mobility Limitation,Pain,Cholesterol,Hemoglobin A, Glycosylated,C-Reactive Protein,Cystatin C,Depression,Alcohol Drinking,Smoking,Personality,Life Style,Cognition,Demography,Ethnic Groups,Health Status,Population Groups,Housing,Independent Living,Socioeconomic Factors,Career Mobility,Educational Status,Employment,Family Characteristics,Income,Occupations,Poverty,Social Change,Social Class,Social Conditions,Risk Factors https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000428 *Introduction to V2: *This data release comprises data from the V1 release combined with approximately 3,000 additional samples, collected during the HRS 2010 field period. The 2010 data include samples from a random half of the new cohort enrolled in 2010 along with a significant expansion of the minority sample. *Description:* The University of Michigan Health and Retirement Study (HRS) is a longitudinal panel study that surveys a representative sample of approximately 20,000 people in America over the age of 50 every two years. Supported by the National Institute on Aging (NIA U01AG009740) and the Social Security Administration, the HRS explores the changes in labor force participation and the health transitions that individuals undergo toward the end of their work lives and in the years that follow. The study collects information about income, work, assets, pension plans, health insurance, disability, physical health and functioning, cognitive functioning, and health care expenditures. Through its unique and in-depth interviews, the HRS provides an invaluable and growing body of multidisciplinary data that researchers can use to address important questions about the challenges and opportunities of aging. Because of its innovation and importance, the HRS has become the model and hub for a growing network of harmonized longitudinal aging studies around the world. *Origins of the HRS.* As the population ages it is increasingly important to obtain reliable data about aging and topics that are relevant to a range of policy issues in aging. To address this need, the National Institutes on Aging (NIA) established a cooperative agreement with the University of Michigan Institute for Social Research to collect such data. The HRS launched data collection in 1992 and has re-interviewed the original sample of respondents every two years since then. By adding new cohorts and refreshing the sample, the HRS has grown to become the largest, most representative longitudinal panel study of Americans 50 years and older. *HRS Study Design.* The target population for the original HRS cohort includes all adults in the contiguous United States born during the years 1931-1941 who reside in households, with a 2:1 oversample of African-American and Hispanic populations. The original sample is refreshed with new birth cohorts (51-56 years of age) every six years. The sample has been expanded over the years to include a broader range of birth cohorts as well. The target population for the AHEAD survey consists of United States household residents who were born in 1923 or earlier. Children of the Depression (CODA) recruits households born 1924-1930, War Babies 1942-47, Early Boomers 1948-53, and Mid-Boomers 1954-59. Data collection includes a mixed mode design combining in-person, telephone, mail, and Internet. For consenting respondents, HRS data are linked at the individual level to administrative records from Social Security and Medicare claims. *Genetic Research in the HRS.* The HRS has genotyped 2.5 million single nucleotide polymorphisms (SNPs) on respondents using Illumina's Human Omni2.5-Quad (Omni2.5) BeadChip. The genotyping was performed by the NIH Center for Inherited Disease Research (CIDR). Saliva was collected on half of the HRS sample each wave starting in 2006. In 2006, saliva was collected using a mouthwash collection method. From 2008 onward, the data collection method switched to the Oragene kit. Saliva completion rates were 83% in 2006, 84% in 2008, and 80% in 2010 among new cohort enrollees. HRS Phenotypic data. Phenotypic data are available on a variety of dimensions. Health measures include physical/psychological self-report, various health conditions, disabilities, cognitive performance, health behaviors (smoking, drinking, exercise), physical performance and anthropomorphic measures, and biomarkers (HbA1c, Total Cholesterol, HDL, CRP, Cystatin-C). Data are also available on health services including utilization, insurance and out-of-pocket spending with linkage to Medicare records. Economic measures include employment status/history, earnings, disability, retirement, type of work, income by source, wealth by asset type, capital gains/debt, consumption, linkage to pensions, Social Security earnings/benefit histories. There is also extensive information on family structure, proximity, transfers to/from of money, time, social and psychological characteristics, as well as a wide range of demographics. Performance on a cognitive test combining immediate and delayed word recall was selected as an example trait for the dbGaP data release. In the immediate word recall task the interviewer reads a list of 10 nouns to the respondent and asks the respondent to recall as many words as possible from the list in any order. After approximately five minutes of asking other survey questions, the respondent is asked to recall the nouns previously presented as part of the immediate recall task. The total recall score is the sum of the correct answers to these two tasks, with a range of 0 to 20. Researchers who wish to link to other HRS measures not in dbGaP will be able to apply for access from HRS. A separate Data Use Agreement (DUA) will be required for linkage to the HRS data. See the HRS website (http://hrsonline.isr.umich.edu/gwas) for details.

Eligibility

1 Itemgruppe 6 Datenelemente

pht002612.v2.p2

1 Itemgruppe 4 Datenelemente

pht002613.v2.p2

1 Itemgruppe 5 Datenelemente

pht002614.v2.p2

1 Itemgruppe 7 Datenelemente

pht005037.v1.p2

1 Itemgruppe 5 Datenelemente

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dbGaP phs000725 Rare Cancer Tumors Project - pht003882.v2.p1

- 06.01.23 - 9 Formulare, 1 Itemgruppe, 5 Datenelemente, 1 Sprache

Itemgruppe: 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 Itemgruppe 3 Datenelemente

pht003886.v2.p1

1 Itemgruppe 5 Datenelemente

pht004475.v2.p1

1 Itemgruppe 4 Datenelemente

pht004476.v2.p1

1 Itemgruppe 6 Datenelemente

pht004585.v2.p1

1 Itemgruppe 5 Datenelemente

Eligibility

1 Itemgruppe 1 Datenelement

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

- 27.11.24 - 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

Radiation Therapy Oncology Group Phase III Lung Prophylactic Cranial RT Neurocognitive Evaluation Summary Form NCT00048997

- 03.06.15 - 1 Formular, 3 Itemgruppen, 18 Datenelemente, 1 Sprache

Itemgruppen: Header Module, Neurocognitive Evaluation, CCRR MODULE

Radiation Therapy Oncology Group Phase III Lung Prophylactic Cranial RT Neurocognitive Evaluation Summary Form NCT00048997 Radiation Therapy in Preventing CNS Metastases in Patients With Non-Small Cell Lung Cancer Source Form: NCI FormBuilder: https://formbuilder.nci.nih.gov/FormBuilder/formDetailsAction.do?method=getFormDetails&formIdSeq=A5472EED-0175-07F2-E034-080020C9C0E0

Eligibility DRKS00009656 NCT00069745 Prostate Cancer - Eligibility

- 20.09.21 - 1 Formular, 3 Itemgruppen, 34 Datenelemente, 2 Sprachen

Itemgruppen: Inclusion criteria, Exclusion criteria, Medical Concepts

Satraplatin in Hormone Refractory Prostate Cancer Patients Previously Treated With One Cytotoxic Chemotherapy Regimen Inclusion Criteria: - Stage D2 metastatic prostate cancer - Progression after one prior chemotherapy - ECOG Performance status equal / less than 2 - Life expectancy > 3 months - Surgical or medical castration - Adequate bone marrow, hepatic and renal functions - Informed consent Exclusion Criteria: - More than one prior chemotherapy - Prior platinum containing compounds - Prior malignancy - Prior significant RT/radionuclide therapy - Major GI surgery or GI disease affecting absorption - Disease with contraindication to steroids - Brain metastases

dbGaP phs000495 The Gene Partnership (TGP) - eMERGE Data - Eligibility

- 13.12.22 - 5 Formulare, 1 Itemgruppe, 7 Datenelemente, 1 Sprache

Itemgruppe: IG.elig

Principal Investigator: Isaac S. Kohane, MD, PhD, Boston Children's Hospital, Boston, MA, USA MeSH: Autistic Disorder,Heart Defects, Congenital,Asthma,Attention Deficit Disorders,Diabetes Mellitus, Type 1,Diabetes Mellitus, Type 2,Epilepsy,Gastrointestinal Diseases,Hypersensitivity,Autoimmune Diseases,Hematologic Diseases,Neoplasms,Arrhythmias, Cardiac,Chromosome Aberrations,Congenital Abnormalities,Dermatology,Developmental Disabilities,Endocrine System,Otolaryngology,Syndrome,Urogenital System,Hearing Loss,Immune System Diseases,Musculoskeletal Abnormalities,Nervous System Diseases,Neuromuscular Diseases,Metabolic Diseases,Nutrition Disorders,Vision Disorders,Mouth Diseases,Mental Disorders,Kidney Diseases,Respiration Disorders,Thyroid Diseases,Vascular Diseases https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000495 The Gene Partnership (TGP) is a prospective longitudinal registry at Boston Children's Hospital (BCH) to study the genetic and environmental contributions to childhood health and disease, collect genetic information on a large number of children who have been phenotyped, and implement the Informed Cohort and the Informed Cohort Oversight Board (ICOB). The term "*The Gene Partnership*" reflects a partnership between researchers and participants. Children seen at BCH are offered enrollment, as are their parents and siblings. DNA is collected on all enrollees. BCH has a comprehensive EMR system, and virtually all inpatient and outpatient data are captured electronically. Clinical data in the BCH EMR is loaded in the i2b2 data warehouse which is available to investigators. Cases, phenotypes, and covariates are ascertained using the i2b2 database. Participants at BCH in TGP have consented to receive any research result and/or incidental finding that arises from studies using TGP that is approved by the Informed Cohort Oversight Board (ICOB) and is in accordance with the participants' preferences; results are returned through the Personally Controlled Health Record (PCHR). BCH and Cincinnati Children's Hospital Medical Center (CCHMC) have partnered as the *P*ediatric *A*lliance for *G*enomic and *E*lectronic Medical Record (EMR) *R*esearch (*PAGER*) site for the eMERGE Phase II network for pediatric institutions, and the cohort for eMERGE at BCH is TGP.

pht002864.v1.p1

1 Itemgruppe 4 Datenelemente

pht002865.v1.p1

1 Itemgruppe 5 Datenelemente

pht002866.v1.p1

1 Itemgruppe 42 Datenelemente

pht002867.v1.p1

1 Itemgruppe 4 Datenelemente

dbGaP phs000827 N.C. Clinical Genomic Evaluation by NextGen Exome Sequencing (NCGENES) - Eligibility

- 04.03.24 - 5 Formulare, 1 Itemgruppe, 8 Datenelemente, 1 Sprache

Itemgruppe: IG.elig

Principal Investigator: James P. Evans, MD, PhD, University of North Carolina, Chapel Hill, NC, USA MeSH: Genetic Diseases, Inborn,Neoplasms,Adenomatous Polyposis Coli,Microcephaly,Aortic Aneurysm, Thoracic,Peripheral Nervous System Diseases,Cardiomyopathies,Leukodystrophy, Globoid Cell,Seizures,Mitochondria,Inflammation,Autoimmune Diseases,Progeria,Retina,Muscular Diseases,Rhabdomyolysis,Arrhythmias, Cardiac,Osteochondrodysplasias,Intellectual disability,Autistic Disorder,Neuromuscular Diseases,Paraplegia,Central Nervous System Diseases,Cholestasis,Anemia,Genetic Testing https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000827 North Carolina Clinical Genomic Evaluation by Next-generation Exome Sequencing This study is part of a larger consortium project investigating the validity and best use of next-generation sequencing (in particular, whole exome sequencing, or WES) in clinical care. Participants are patients who were either seen in the UNC Cancer and Adult Genetics Clinic or referred to the study by their physician. They will be approached by their physician or a genetic counselor for recruitment. Once enrolled, a clinical geneticist or genetic counselor will obtain consent and collect blood samples to be analyzed using WES. Results may include information related to a diagnosis and incidental information. Medically actionable incidental findings will be CLIA-certified and returned to participants in a routine genetic counseling session, along with diagnostic findings. Eligible adult participants will be randomized to have the opportunity to choose to get certain types of non-medically actionable incidental findings, as well. Their decisions will be investigated, as will psychosocial and behavioral responses to sequencing and receiving sequencing information. This is a longitudinal, mixed methods study (i.e., multiple assessments pre- and post-return of results, with both quantitative and qualitative methods used to gather data). Because only the quantitative component of the study uses randomization, only measures and procedures associated with that component are included here. The third study release includes data of additional n=189 subjects.

pht004472.v3.p1

1 Itemgruppe 7 Datenelemente

pht004469.v3.p1

1 Itemgruppe 5 Datenelemente

pht004470.v3.p1

1 Itemgruppe 5 Datenelemente

pht004471.v3.p1

1 Itemgruppe 7 Datenelemente

dbGaP phs001052 Multi-Dimensional ClinOmics for Precision Therapy - Eligibility

- 09.07.23 - 5 Formulare, 1 Itemgruppe, 1 Datenelement, 1 Sprache

Itemgruppe: IG.elig

Principal Investigator: MeSH: Neoplasms,Sarcoma,Sarcoma, Ewing,Rhabdomyosarcoma,Wilms Tumor,Desmoplastic Small Round Cell Tumor,Carcinoma, Transitional Cell,Rhabdoid Tumor,Sarcoma, Synovial,Neuroblastoma,Neuroendocrine tumors https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001052 The Center for Cancer Research (CCR), of the intramural NCI undertook a multidimensional clinical genomics study of children and adolescent young adults with relapsed and refractory cancers who were enrolled on other therapeutic trials to determine the feasibility of a genome guided precision therapy protocol in these patients.

pht005466.v2.p1

1 Itemgruppe 2 Datenelemente

pht005467.v2.p1

1 Itemgruppe 3 Datenelemente

pht005468.v2.p1

1 Itemgruppe 3 Datenelemente

pht005469.v2.p1

1 Itemgruppe 6 Datenelemente

dbGaP phs001228 Kids First Pediatric Research Program in Susceptibility to Ewing Sarcoma Based on Germline Risk and Familial History of Cancer - Eligibility

- 16.05.23 - 3 Formulare, 1 Itemgruppe, 1 Datenelement, 1 Sprache

Itemgruppe: IG.elig

Principal Investigator: Joshua D. Schiffman, MD, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA MeSH: Sarcoma, Ewing,Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001228 The Gabriella Miller Kids First Pediatric Research Program (Kids First) is a trans-NIH effort initiated in response to the 2014 Gabriella Miller Kids First Research Act and supported by the NIH Common Fund. This program focuses on gene discovery in pediatric cancers and structural birth defects and the development of the Gabriella Miller Kids First Pediatric Data Resource (Kids First Data Resource). Ewing sarcoma (EWS) is a deadly bone cancer that occurs in children and adolescents. Mounting evidence suggests that a genetic predisposition exists for this pediatric cancer, although the specific genetic contribution has yet to be identified. EWS has never been linked to a specific cancer predisposition syndrome, although several case reports have been published that describe siblings and cousins with EWS. Furthermore, neuroectodermal tumors appear to occur more commonly in families with EWS. The two consistent epidemiology findings in EWS include a very strong Caucasian predilection and increased rates of hernia in EWS patients and their family members. Finally, the role of genetic microsatellite repeats in EWS tumorigenesis has been recently described, and these GGAA microsatellites are polymorphic in repeat size and location across the genome. The study goals of this Kids First project include (1) To identify cancer predisposition genes in EWS trios increasing disease risk, (2) To identify genome-wide GGAA microsatellite repeats in EWS trios increasing disease risk, and (3) To identity de novo mutation and structural variant rates in EWS trios reflecting underlying DNA repair defects that increase disease risk. As part of the Kids First Common Fund initiative, this study proposal will further elucidate the genetic contribution to pediatric cancer development. Around 375 of these trios were selected for whole genome sequencing as part of the Gabriella Miller Kids First fund. The EWS trios have been collected as part of the Children's Oncology Group's AEPI10N5 Study ("Genetic Epidemiology of Ewing Sarcoma"), and each trio has associated phenotypic data including a detailed family history. We will interrogate the sequence data using our genomic analysis pipeline at the University of Utah and the Utah Science Technology and Research initiative's (USTAR) Center for Genetic Discovery. We will look for the genetic contribution to ES and the sequence data with be shared in a repository designated by the Kids First Common Fund. All of the WGS and phenotype data from this study is accessible through kidsfirstdrc.org, where other Kids First datasets can also be accessed. The WGS of these ~375 EWS trios will help us to understand the genetic origins of a deadly childhood cancer and may lead to novel strategies for prevention and treatment.

pht008133.v1.p1

1 Itemgruppe 2 Datenelemente

pht008134.v1.p1

1 Itemgruppe 2 Datenelemente

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