Impact of Family History and Decision Support on High-risk Cancer Screening
Ontology highlight
ABSTRACT:
DISEASE(S): Colorectal Cancer,Colorectal Neoplasms
PROVIDER: 2174941 | ecrin-mdr-crc |
REPOSITORIES: ECRIN MDR
Similar Datasets
Project description:A complete family history (FH) may identify persons at high risk for certain conditions. They can be offered genetic testing and life-saving screening and treatment. In practice, complete FH is rarely collected or entered into the electronic medical record (EMR). The Family History Screening Questionnaire is a survey patients complete to tell whether they are at increased risk of specific cancers, heart disease or diabetes. We will test a new way to record FH that includes an app to improve use of FH by family physicians and patients. The strategy includes education for patients and physicians about the importance of FH; patient completion of the FH questionnaire prior to appointments; and prompts in the EMR. We expect this to help family physicians and patients interpret FH and make the best decisions. We will assess the proportion of patients with new EMR FH information. We will explore if the strategy increases appropriate referrals for screening and genetic consultation for those at increased FH risk. We will also obtain patients’ and physicians’ feedback on this strategy. This new approach may improve FH information exchange between patients and physicians, encourage shared decision-making and reduce cancer deaths and chronic disease burden.
| 2365199 | ecrin-mdr-crc
Project description:Conflicting guideline recommendations for screening colonoscopy result due to scant data upon which to develop appropriate recommendations. No previous study has compared the prevalence of advanced adenomas or adenomas (any size) among 40-49 year old individuals with a first degree relative (FDR) with colorectal cancer (CRC) versus 40-49 year old average risk individuals with no family history of CRC. The purpose of this study is to determine the prevalence of colon adenomas in 40-49 year old individuals and identify risk factors associated with the presence of advanced adenomas. This data will provide evidence to determine appropriate colon cancer screening guidelines in 40-49 year old persons with a family history of colon polyps or colorectal cancer.
| 2178138 | ecrin-mdr-crc
Project description:A first- degree family history of colorectal cancer (CRC) or adenoma before age 65 is associated with a high risk of CRC. For these high-risk subjects, the French 2013 recommendations advise colonoscopy screening, but participation is insufficient (26-54%).The purpose of this project is to propose, through association of multidisciplinary research teams (public health, sociology, linguistic), actors on the field (physicians, organized screening facilities), and decision makers, relevant and effective interventions in the framework of a public health program, enabling increased participation of relatives of patients with CRC or adenoma before age 65 in targeted screening for CRC by colonoscopy.
| 2280280 | ecrin-mdr-crc
Project description:Interventions: Individuals from intervention General Practices who opt in to the study will be given a password, allowing them to access the ‘Family History Website’ tool. This online tool will collect information about their family history of colorectal cancer and encourage discussion with their relatives so that they can gather accurate information. Upon completion of the questionnaire, individuals will be assigned to a NHMRC designated risk category for developing CRC, which will be accompanied by the appropriate screening recommendations, with a personalised summary of their information. This information will be accessible to their GP via a shared access facility, and participants will be encouraged to discuss their results with their GP within the following consultation. The completion of the family history website and GP consultation thereafter, is known as Assessment 1 at time = 0. Participants will be followed up 12 months after their completion of the ‘Family History Website’, where they will be required to self report their five year screening behaviour; while their GP’s will complete a file audit and a survey about the utility of the ‘Family History Website’ tool in addition to their knowledge about CRC risk and screening guidelines. This will be known as assessment 2 at time =1
Primary outcome(s): Outcome Aim: Risk appropriate screening uptake as measured by the participants’ five year screening behaviour in relation to their colorectal cancer risk category
Five year screening behaviour- All participants will have their five year screening behaviour recorded at time=1 by self report[12 to 18 months after randomisation, t=1];Colorectal cancer risk category- Intervention practice participants will receive a CRC risk category after completing the ‘Family History Website’ tool., at some time within the 12 month time period t=0. However, participants from control practices will asked about their ‘known family history’ at time=1, and will not be allowed access to the ‘Family History Website’ tool, until after that information is collected.[Within 12 months of the intervention , t=0 for the intervention group and one year after randomisation, t=1 for the control group]
Study Design: Purpose: Prevention; Allocation: Randomised controlled trial; Masking: Blinded (masking used);Assignment: Parallel;Type of endpoint: Efficacy
| 2456990 | ecrin-mdr-crc
Project description:Type 2 diabetes mellitus (DM) is characterized by insulin resistance and pancreatic beta-cell dysfunction. In high-risk subjects, the earliest detectable abnormality is insulin resistance in skeletal muscle. Impaired insulin-mediated signaling, gene expression, and glycogen synthesis, and accumulation of intramyocellular triglycerides have all been linked with insulin resistance, but no specific defect responsible for insulin resistance and DM has been identified in humans. To identify genes potentially important in the pathogenesis of DM, we analyzed gene expression in skeletal muscle from healthy metabolically characterized nondiabetic (family history negative and positive for DM) and diabetic Mexican-American subjects. We demonstrate that insulin resistance and DM associate with reduced expression of multiple nuclear respiratory factor-1 (NRF-1)-dependent genes encoding key enzymes in oxidative metabolism and mitochondrial function. While NRF-1 expression is decreased only in diabetic subjects, expression of both PPARg coactivator 1-alpha and -beta (PGC1-a/PPARGC1, and PGC1-b/PERC), coactivators of NRF-1 and PPARg-dependent transcription, is decreased in both diabetic subjects and family history positive nondiabetic subjects. Decreased PGC1 expression may be responsible for decreased expression of NRFdependent genes, leading to the metabolic disturbances characteristic of insulin resistance and DM. Human muscle samples were obtained from five subjects with type 2 diabetes and ten subjects without diabetes, as well as 5 aliquots from a single subject without diabetes. The subjects without diabetes were further classified as family history positive (four subjects) or family history negative (six subjects).
2010-04-27 | E-GEOD-21340 | biostudies-arrayexpress
Project description:Interventions: Group 1: We want to evaluate the frequency of a family history of colorectal cancer (CRC) and advanced adenomas in 40-54 year old persons in a general practitioner (GP) setting and identify the variables (e.g. demographic, genetic, epigenetic and proteomic biomarkers) that are associated with it. In addition, we want to detect informed decision, anxiety and regret with respect to screening. The health care assistant in the general practice will contact eligible patients and complete the Network against colorectal cancer questionnaire. For those who have a positive family history the GP will provide family members related to CRC patients with adequate evidence-based information and describe prevention strategies. We plan to examine the participant´s family history of CRC in detail and further variables (e.g. demographics) associated with an increased risk will be collected. Additional stool and blood samples will be collected from study-participants who decide to undergo a colonoscopy (n~350) and analyzed in the German Cancer Research Center (DKZF) Heidelberg to see whether further relevant variables are associated with an increased risk of CRC
We expect that about 8,750 person in 50 general practices in Hesse will be asked, of those about 875 are expected to have a positive family history of colorectal cancer. Of those, we expect around 350 persons to follow the invitation to have a colonoscopy.
Primary outcome(s): Frequency of a family history of (colorectal) cancer and advanced adenomas in a GP setting
Study Design: Allocation: N/A: single arm study; Masking: Open (masking not used); Control: uncontrolled; Assignment: single; Study design purpose: screening
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Project description:Obesity is an independent risk factor for diabetes and cardiovascular disease. Before effective anti-obesity therapies can be developed, understanding of what governs the production of healthy versus unhealthy fat tissue is required, as not all types confer equal risk. Adipogenesis requires the precise transduction of signals and coordination of transcription factor cascades. Molecular adaptor proteins of the 14-3-3 family are known to coordinate signaling events from multiple cues, but whether specific isoforms have unique, non-redundant roles in adipogenesis remains unclear. RNAi screening revealed 14-3-3ζ as the critical isoform for in vitro adipocyte differentiation. This study aims to understand the role of 14-3-3ζ in adipogenesis program and the differentiation in health adipose tissue.
2022-03-01 | PXD001215 | Pride
Project description:Type 2 diabetes mellitus (DM) is characterized by insulin resistance and pancreatic beta-cell dysfunction. In high-risk subjects, the earliest detectable abnormality is insulin resistance in skeletal muscle. Impaired insulin-mediated signaling, gene expression, and glycogen synthesis, and accumulation of intramyocellular triglycerides have all been linked with insulin resistance, but no specific defect responsible for insulin resistance and DM has been identified in humans. To identify genes potentially important in the pathogenesis of DM, we analyzed gene expression in skeletal muscle from healthy metabolically characterized nondiabetic (family history negative and positive for DM) and diabetic Mexican-American subjects. We demonstrate that insulin resistance and DM associate with reduced expression of multiple nuclear respiratory factor-1 (NRF-1)-dependent genes encoding key enzymes in oxidative metabolism and mitochondrial function. While NRF-1 expression is decreased only in diabetic subjects, expression of both PPARg coactivator 1-alpha and -beta (PGC1-a/PPARGC1, and PGC1-b/PERC), coactivators of NRF-1 and PPARg-dependent transcription, is decreased in both diabetic subjects and family history positive nondiabetic subjects. Decreased PGC1 expression may be responsible for decreased expression of NRFdependent genes, leading to the metabolic disturbances characteristic of insulin resistance and DM.
2010-04-14 | GSE21340 | GEO
Project description:Type 2 diabetes mellitus (DM) is characterized by insulin resistance and pancreatic beta-cell dysfunction. In high-risk subjects, the earliest detectable abnormality is insulin resistance in skeletal muscle. Impaired insulin-mediated signaling, gene expression, and glycogen synthesis, and accumulation of intramyocellular triglycerides have all been linked with insulin resistance, but no specific defect responsible for insulin resistance and DM has been identified in humans. To identify genes potentially important in the pathogenesis of DM, we analyzed gene expression in skeletal muscle from healthy metabolically characterized nondiabetic (family history negative and positive for DM) and diabetic Mexican-American subjects. We demonstrate that insulin resistance and DM associate with reduced expression of multiple nuclear respiratory factor-1 (NRF-1)-dependent genes encoding key enzymes in oxidative metabolism and mitochondrial function. While NRF-1 expression is decreased only in diabetic subjects, expression of both PPARg coactivator 1-alpha and -beta (PGC1-a/PPARGC1, and PGC1-b/PERC), coactivators of NRF-1 and PPARg-dependent transcription, is decreased in both diabetic subjects and family history positive nondiabetic subjects. Decreased PGC1 expression may be responsible for decreased expression of NRFdependent genes, leading to the metabolic disturbances characteristic of insulin resistance and DM.
2007-06-28 | E-CBIL-28 | biostudies-arrayexpress
Project description:Depression is a common and disabling disorder, representing a major social and economic health issue. Moreover, depression is associated with the progression of diseases with an inflammatory etiology including many inflammatory-related disorders. At the molecular level, the mechanisms by which depression might promote the onset of these diseases and associated immune-dysfunction are not well understood. In this study we assessed genome-wide patterns of DNA methylation in whole blood-derived DNA obtained from individuals with a self-reported history of depression (n=100) and individuals without a history of depression (n=100) using the Illumina 450K microarray. Our analysis identified 6 significant (Sidak corrected P < 0.05) depression-associated differentially methylated regions (DMRs); the top-ranked DMR was located in exon 1 of the LTB4R2 gene (Sidak corrected P = 1.27 x 10-14). Polygenic risk scores (PRS) for depression were generated and known biological markers of inflammation, telomere length (TL) and IL-6, were measured in DNA and serum samples respectively. Next, we employed a systems-level approach to identify networks of co-methylated loci associated with a history of depression, in addition to depression PRS, TL and IL-6 levels. Our analysis identified one depression-associated co-methylation module (P = 0.04). Interestingly, the depression-associated module was highly enriched for pathways related to immune function and was also associated with TL and IL-6 cytokine levels. In summary, our genome-wide DNA methylation analysis of individuals with and without a self-reported history of depression identified several candidate DMRs of potential relevance to the pathogenesis of depression and its associated immune-dysfunction phenotype.
2018-06-01 | GSE113725 | GEO