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Integrated Analysis of Germline and Tumor DNA Identifies New Candidate Genes Involved in Familial Colorectal Cancer
(MDPI, 2019-03-13)
Colorectal cancer (CRC) shows aggregation in some families but no alterations in the known hereditary CRC genes. We aimed to identify new candidate genes which are potentially involved in germline predisposition to familial ...
A new approach to epigenome-wide discovery of non-invasive methylation biomarkers for colorectal cancer screening in circulating cell-free DNA using pooled samples
(Biomed Central, 2018-04-16)
Background: Colorectal cancer is the fourth cause of cancer-related deaths worldwide, though detection at early stages associates with good prognosis. Thus, there is a clear demand for novel non-invasive tests for the early ...
Modeling Personalized Adjuvant TreaTment in EaRly stage coloN cancer (PATTERN)
(Springer, 2020-09)
Aim To develop a decision model for the population-level evaluation of strategies to improve the selection of stage II colon cancer (CC) patients who benefit from adjuvant chemotherapy. Methods A Markov cohort model with ...
Colorectal Cancer Genetic Variants Are Also Associated with Serrated Polyposis Syndrome Susceptibility
(BMJ Publishing Group, 2020-10)
Background Serrated polyposis syndrome (SPS) is a clinical entity characterised by large and/ormultiple serrated polyps throughout the colon and increased risk for colorectal cancer (CRC). The basis for SPS genetic ...
Colorectal cancer molecular classification using BRAF, KRAS, microsatellite instability and CIMP status: Prognostic implications and response to chemotherapy
(Public Library of Science, 2018-09-06)
Objective
The aim of this study was to validate a molecular classification of colorectal cancer (CRC) based on microsatellite instability (MSI), CpG island methylator phenotype (CIMP) status, BRAF, and KRAS and investigate ...
Mediastinal abscess, an unusual way of presentation of eosinophilic esophagitis
(Biomed Central, 2019-02-28)
Eosinophilic esophagitis (EoE) is one of the most prevalent esophageal diseases and the leading cause of dysphagia and food impaction in children and young adults. EoE represents a chronic, local immune-mediated esophageal ...
Functional rare variants influence the clinical response to anti-TNF therapy in Crohn's disease
(Sage, 2019-09)
Background: The effect of low-frequency functional variation on anti-tumor necrosis factor alpha (TNF) response in Crohn's disease (CD) patients remains unexplored. The objective of this study was to investigate the impact ...
Symptom or faecal immunochemical test based referral criteria for colorectal cancer detection in symptomatic patients: a diagnostic tests study
(Biomed Central, 2018-10-25)
BackgroundSymptom based referral criteria for colorectal cancer (CRC) detection are the cornerstone of the strategy to improve prognosis in CRC. In 2017, the National Institute for Health and Care Excellence (NICE) updated ...
Identification of a Novel Candidate Gene for Serrated Polyposis Syndrome Germline Predisposition by Performing Linkage Analysis Combined With Whole-Exome Sequencing
(Lippincott Williams & Wilkins, 2019-09-19)
OBJECTIVES: Serrated polyposis syndrome (SPS) is a complex disorder with a high risk of colorectal cancer for which the germline factors remain largely unknown. Here, we combined whole-exome sequencing (WES) and linkage ...
Patients with Cholangiocarcinoma Present Specific RNA Profiles in Serum and Urine Extracellular Vesicles Mirroring the Tumor Expression: Novel Liquid Biopsy Biomarkers for Disease Diagnosis
(MDPI, 2020-03-14)
Cholangiocarcinoma (CCA) comprises a group of heterogeneous biliary cancers with dismal prognosis. The etiologies of most CCAs are unknown, but primary sclerosing cholangitis (PSC) is a risk factor. Non-invasive diagnosis ...