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Identifying patients with hereditary and familial colorectal cancer by using an online risk tool

ABSTRACT: Intervention: offering an online risk assessment questionnaire to CRC patients, to facilitate the detection of CRC patients with hereditary or familial CRC Control: Hospital-based standard practice for the detection of CRC patients with hereditary or familial CRC, informed by the referral criteria that are being used in the intervention group Primary outcome(s): Percentage of all included patients who receive a recommendation for regular surveillance colonoscopies for himself/herself and/or relatives, provided by a clinical geneticist. Study Design: Non-randomized controlled trial, Open (masking not used), Active, Crossover

DISEASE(S): Colorectal Cancer, Questionnaire, Heredity, Lynch Syndrome, Familial Colorectal Cancer, Family History

PROVIDER: 19677 | ecrin-mdr-crc |

REPOSITORIES: ECRIN MDR

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Identifying Patients With Hereditary and Familial Colorectal Cancer by Using an Online Risk Tool

Project description:In this trial the investigators will evaluate the effectiveness of the implementation of a digital familial risk questionnaire in the detection of CRC patients with hereditary or familial CRC. This will be done using a stepped wedge design with 5 participating hospitals for a duration of 1.5 years. A comparison is made between an intervention phase (offering the online risk assessment questionnaire) and a control phase (hospital-based standard practice for the detection of CRC patients with hereditary or familial CRC, informed by the referral criteria that are being used in the intervention group). All patients with a diagnosis of CRC who have a first appointment at the CRC outpatient clinic will be included. The primary outcome is the percentage of all included patients who receive a recommendation for regular surveillance colonoscopies for himself/herself and/or relatives, provided by a clinical geneticist. Data from clinical geneticists is being used to answer this question.

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Expression profiling in early onset colorectal cancer

Project description:Background: Causative genes for autosomal dominantly inherited familial adenomatous polyposis (FAP) and hereditary non-polyposis colorectal cancer (HNPCC) have been well characterized. There is, however, another 10-15 % early onset colorectal cancer (CRC) whose genetic components are currently unknown. In this study, we used DNA chip technology to systematically search for genes differentially expressed in early onset CRC. Keywords: disease state analysis

2007-03-20 | GSE4107 | GEO

Identification of candidate predisposing copy number variants in familial and early-onset colorectal cancer patients

Project description:In the majority of colorectal cancers (CRC) under clinical suspicion for a hereditary cause, the disease-causing genetic factors are still to be discovered. In order to identify such genetic factors we stringently selected a discovery cohort of 41 CRC index patients with microsatellite-stable tumors. All patients were below 40 years of age at diagnosis and/or exhibited an overt family history. We employed genome-wide copy number profiling using high-resolution SNP-based array CGH on germline DNA, which resulted in the identification of novel copy number variants (CNVs) in 6 patients (15%) encompassing, among others, the cadherin gene CDH18, the bone morphogenetic protein antagonist family gene GREM1, and the breakpoint cluster region gene BCR. In addition, two genomic deletions were encountered encompassing two microRNA genes, hsa-mir-491/KIAA1797 and hsa-mir-646/AK309218. None of these CNVs has previously been reported in relation to CRC predisposition in humans, nor were they encountered in large control cohorts (>1,600 unaffected individuals). Since several of these newly identified candidate genes may be functionally linked to CRC development, our results illustrate the potential of this approach for the identification of novel candidate genes involved in CRC predisposition. Copy number detection was performed using CNAG2.0 software for 250k SNP arrays and using the Affymetrix Genotyping Console v2.1 software for SNP 6.0 arrays, Reference genomes are included in this data set. Germline genomic DNA from 41 patients with early-onset microsatellite stable colorectal cancer was hybridized on Affymetrix Nsp/6.0 SNP-based arrays according to manufacturer's procedures.

2010-11-01 | E-GEOD-13429 | biostudies-arrayexpress

Gene expression comparison of colorectal cancer samples from patients diagnosed at a young and elderly age

Project description:Colorectal cancer (CRC) incidence increases with age and early onset of the disease is an indication of genetic predisposition, estimated to cause up to 30 % of all CRC cases. To identify genes associated with an increased risk for CRC, genome-wide gene expression levels of CRCs from patients diagnosed at an early age and CRCs from patients diagnosed at higher age were investigated. Patients with known hereditary predisposition syndromes were excluded from the study.

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Whole blood gene expression data from PFAPA syndrome

Project description:PFAPA, the syndrome of periodic fever associated with aphthous stomatitis, pharyngitis and/or cervical adenitis, is the most common periodic fever disease in children. Cases are mostly sporadic; the etiopathogenesis is unknown. In order to shed more insights into pathogenesis, we performed microarray expression analysis on samples from patients with PFAPA during and between flares, healthy controls and patients with hereditary autoinflammatory diseases during flares. RNA was extracted from whole peripheral blood from six patients with PFAPA syndrome during flares and asymptomatic intervals, six healthy controls and six patients with hereditary autoinflammatory diseases (2 familial Mediterranean fever (FMF), 1 TNF-receptor-asociated periodic fever syndrome (TRAPS) and 3 cryopyrin-associated periodic syndromes (CAPS)).

2011-06-20 | E-GEOD-17732 | biostudies-arrayexpress

Multi-omic colon organoid analysis highlight MSH4 as a marker of Lynch syndrome and microsatellite instability [methylation array]

Project description:Approximately 15% of colorectal cancer (CRC) patients present with high levels of microsatellite instability (MSI-H), which is driven by defective mismatch repair (dMMR). While about 20% of MSI-H tumors are associated with the hereditary condition, Lynch syndrome (LS), the majority develop through non-hereditary mechanisms. In recent years, the molecular processes underpinning tumor development in LS patients has been debated, with the longstanding view that dMMR is a secondary process in CRC development of LS patients being questioned. Here, we performed the first multi-omic analysis of normal colon organoids developed from LS and healthy patients to address questions regarding the development of dMMR in LS colon epithelial cells from cancer-free individuals.

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Mucosal biopsies from groups Normal (NOR) and patients who underwent curative large bowel resection for colorectal cancer (M-CRC)

Project description:The challenge of preventing colorectal cancer (CRC) is the early identification of individuals whose apparently normal colorectal mucosa will develop cancer, because of inherited trait or environmental exposure. We sought to use genome-wide expression profiling of endoscopic biopsies to detect a signature of propensity for cancer. We performed oligonucleotide microarray analysis of normal appearing mucosa of the following cases: healthy individuals (NOR), disease-free carriers predisposed to HNPCC (hereditary non-polyposis CRC), disease-free patients who underwent curative large bowel resection for CRC 1 to 15 years earlier and patients with CRC (MCRC) (GSE23011). As test set we run on affymetrix arrays an independent set of mucosal biopsies of MCRC and NOR samples. This profiling is based on the analysis of 5 patients who underwent curative large bowel resection for CRC from 1 to 15 years before (MCRC samples), and 12 endoscopy-negative, asymptomatic individuals (NOR samples)

2013-11-30 | E-GEOD-23194 | biostudies-arrayexpress

Transcription profile of colon biopsies from normal (NOR) donors, patients, underwent resection for CRC (M-CRC) and patients carriers of mutations predisposed to HNPCC (HNPC)

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2013-11-30 | E-GEOD-23011 | biostudies-arrayexpress

Transcription profile of colon biopsies from normal (NOR) donors, patients, underwent resection for CRC (M-CRC) and patients carriers of mutations predisposed to HNPCC (HNPC)

2013-11-30 | GSE23011 | GEO

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