Results 71 to 80 of about 124,795 (370)
Molecular Alterations and Association with Clinical Parameters [PDF]
Lynch syndrome is caused by germline mutations of DNA mismatch repair (MMR) genes, most frequently MLH1 and MSH2. Recently, MMR-deficient crypt foci (MMR- DCF) have been identified as a novel lesion which occurs at high frequency in the intestinal mucosa
Benner, Axel+11 more
core +1 more source
Microsatellite instability/mismatch repair deficiency and activation of the Wnt/beta-catenin signaling pathway in gastric adenocarcinoma of the fundic gland A case report [PDF]
Rationale: Gastric adenocarcinoma of the fundic gland is a rare, well-differentiated variant of gastric adenocarcinoma, which has been proposed as a novel disease entity.
Yang, Guang
core +1 more source
In molecular cancer diagnostics, comprehensive genomic profiling (CGP) is going to replace the small NGS panels since it provides all clinically relevant somatic variants as well as genomic biomarkers with clinical value. Here, we compared two CGP assays and demonstrate that the choice for diagnostic implementation will depend on the specific ...
Guy Froyen+17 more
wiley +1 more source
Molecular and functional profiling unravels targetable vulnerabilities in colorectal cancer
We used whole exome and RNA‐sequencing to profile divergent genomic and transcriptomic landscapes of microsatellite stable (MSS) and microsatellite instable (MSI) colorectal cancer. Alterations were classified using a computational score for integrative cancer variant annotation and prioritization.
Efstathios‐Iason Vlachavas+15 more
wiley +1 more source
Background The aim of the study was to evaluate potential chemotherapy-induced microsatellite instability, loss of heterozygosity, loss of expression in mismatch repair proteins and associations with clinical findings in breast cancer patients ...
Kamat Nasir+6 more
doaj +1 more source
Computational analysis of pathological image enables interpretable prediction for microsatellite instability [PDF]
Microsatellite instability (MSI) is associated with several tumor types and its status has become increasingly vital in guiding patient treatment decisions. However, in clinical practice, distinguishing MSI from its counterpart is challenging since the diagnosis of MSI requires additional genetic or immunohistochemical tests.
arxiv
On the calibration of neural networks for histological slide-level classification [PDF]
Deep Neural Networks have shown promising classification performance when predicting certain biomarkers from Whole Slide Images in digital pathology. However, the calibration of the networks' output probabilities is often not evaluated. Communicating uncertainty by providing reliable confidence scores is of high relevance in the medical context.
arxiv
Biomaterial-induced sarcomagenesis is not associated with microsatellite instability [PDF]
Sarcomagenesis, in contrast to carcinogenesis, is poorly understood. Microsatellite instability has been implicated in the development of many cancers, in particular those associated with chronic inflammatory conditions.
Hansen, Torsten+5 more
core
Adverse prognosis gene expression patterns in metastatic castration‐resistant prostate cancer
We aggregated a cohort of 1012 mCRPC tissue samples from 769 patients and investigated the association of gene expression‐based pathways with clinical outcomes. Loss of AR signaling, high proliferation, and a glycolytic phenotype were independently prognostic for poor outcomes, and an adverse transcriptional feature score incorporating these pathways ...
Marina N. Sharifi+26 more
wiley +1 more source
DNA mismatch‐repair gene mutations, with consequent loss of functional protein expression, result in microsatellite instability (MSI). Microsatellite sequences are found in coding regions and in regulatory regions of genes (i.e., 5′‐UTRs and 3′‐UTRs). In
Durga Prasad Cherukuri+4 more
doaj +1 more source