AIMC Topic: Colorectal Neoplasms, Hereditary Nonpolyposis

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PLSKB: An Interactive Knowledge Base to Support Diagnosis, Treatment, and Screening of Lynch Syndrome on the Basis of Precision Oncology.

JCO clinical cancer informatics Mar 14, 2025
PURPOSE: Understanding the genetic heterogeneity of Lynch syndrome (LS) cancers has led to significant scientific advancements. However, these findings are widely dispersed across various resources, making it difficult for clinicians and researchers ...
Knowledge Bases Medical Oncology Colorectal Neoplasms, Hereditary Nonpolyposis Precision Medicine Biomarkers, Tumor Early Detection of Cancer Humans
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An artificial intelligence-assisted system versus white light endoscopy alone for adenoma detection in individuals with Lynch syndrome (TIMELY): an international, multicentre, randomised controlled trial.

The lancet. Gastroenterology & hepatology Jul 19, 2024
BACKGROUND: Computer-aided detection (CADe) systems for colonoscopy have been shown to increase small polyp detection during colonoscopy in the general population. People with Lynch syndrome represent an ideal target population for CADe-assisted colo...
Artificial Intelligence Female Aged Adult Humans Male Colorectal Neoplasms, Hereditary Nonpolyposis Diagnosis, Computer-Assisted Middle Aged Early Detection of Cancer Colonoscopy Adenoma
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Artificial intelligence-assisted adenoma detection in people with Lynch syndrome.

The lancet. Gastroenterology & hepatology Jul 19, 2024
Humans Colorectal Neoplasms, Hereditary Nonpolyposis Colonoscopy Artificial Intelligence Adenoma
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Classification of MLH1 Missense VUS Using Protein Structure-Based Deep Learning-Ramachandran Plot-Molecular Dynamics Simulations Method.

International journal of molecular sciences Jan 10, 2024
Pathogenic variation in DNA mismatch repair (MMR) gene is associated with Lynch syndrome (LS), an autosomal dominant hereditary cancer. Of the 3798 germline variants collected in the ClinVar database, 38.7% (1469) were missense variants, of which 8...
Deep Learning DNA Mismatch Repair Molecular Dynamics Simulation Humans Databases, Factual Colorectal Neoplasms, Hereditary Nonpolyposis MutL Protein Homolog 1
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Colorectal Cancer: Microsatellite Instability/Mismatch Repair Testing in the Era of Digital Pathology.

Gastroenterology Aug 13, 2020
Colorectal Neoplasms, Hereditary Nonpolyposis Humans Microsatellite Instability DNA Mismatch Repair Colorectal Neoplasms Deep Learning
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RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

Science (New York, N.Y.) Dec 18, 2014
To facilitate precision medicine and whole-genome annotation, we developed a machine-learning technique that scores how strongly genetic variants affect RNA splicing, whose alteration contributes to many diseases. Analysis of more than 650,000 intron...
Adaptor Proteins, Signal Transducing Genetic Code DNA MutL Protein Homolog 1 Genetic Markers RNA Splice Sites RNA-Binding Proteins Colorectal Neoplasms, Hereditary Nonpolyposis Models, Genetic Muscular Atrophy, Spinal Nuclear Proteins Exons Mutation, Missense Genome-Wide Association Study Humans Genetic Variation Artificial Intelligence RNA Splicing Quantitative Trait Loci Polymorphism, Single Nucleotide Computer Simulation Molecular Sequence Annotation Child Development Disorders, Pervasive Introns
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MMRNet: Ensemble deep learning models for predicting mismatch repair deficiency in endometrial cancer from histopathological images.

Cell reports. Medicine May 20, 2025
Combining molecular classification with clinicopathologic methods improves risk assessment and chooses therapies for endometrial cancer (EC). Detecting mismatch repair (MMR) deficiencies in EC is crucial for screening Lynch syndrome and identifying i...
Humans ROC Curve Neural Networks, Computer Endometrial Neoplasms Female DNA Mismatch Repair Colorectal Neoplasms, Hereditary Nonpolyposis Deep Learning
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Support Vector Machine Based on microRNA Expression Profiles to Predict Histological Origin of Ampullary Carcinoma: Case Report of a Patient Affected From Adenocarcinoma of the Papilla of Vater With Lynch Syndrome.

Pancreas Apr 1, 2016
Adenocarcinomas of Vater's papilla (PVAC) may originate from either the pancreatic duct or the intestinal epithelium. Conflicting data have been reported about the frequency of the 2 anatomical entities and their influence on patients' prognosis. To ...
Ampulla of Vater Pancreatic Ducts Family Health MicroRNAs Pedigree Middle Aged Pancreatic Neoplasms Colorectal Neoplasms, Hereditary Nonpolyposis Gene Expression Profiling Female Adenocarcinoma Carcinoma Adolescent Young Adult Child Support Vector Machine Adult Humans Gene Expression Regulation, Neoplastic Male Prognosis
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Genetic variation and alternative splicing.

Nature biotechnology Apr 1, 2015
Humans Artificial Intelligence Genome-Wide Association Study Child Development Disorders, Pervasive Colorectal Neoplasms, Hereditary Nonpolyposis Molecular Sequence Annotation RNA Splicing Muscular Atrophy, Spinal
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RNA. Prescribing splicing.

Science (New York, N.Y.) Jan 9, 2015
Prescribing splicing
Colorectal Neoplasms, Hereditary Nonpolyposis Muscular Atrophy, Spinal Molecular Sequence Annotation Humans RNA Splicing Child Development Disorders, Pervasive Artificial Intelligence Genome-Wide Association Study
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