Spotlight on amino acid changing mutations in the JAK-STAT pathway: from disease-specific mutation to general mutation databases [PDF]
Scientific ReportsThe JAK-STAT pathway is central to cytokine signaling and controls normal physiology and disease. Aberrant activation via mutations that change amino acids in proteins of the pathway can result in diseases.
Markus Hoffmann, Lothar Hennighausen
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Clinical predictors of survival in malignant peripheral nerve sheath tumors of the head and neck: A cox regression and nomogram study [PDF]
Brazilian Journal of OtorhinolaryngologyObjectives: Malignant Peripheral Nerve Sheath Tumors (MPNST) are rapidly progressing Schwann cell neoplasms. This study aimed to develop a practical clinical nomogram that predicts prognosis in patients with Head and Neck MPNST (HN-MPNST) using the ...
Sun LiNa +4 more
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A structure-based tool to interpret the significance of kinase mutations in clinical next generation sequencing in cancer [PDF]
Frontiers in OncologyIntroductionClinical workflows to analyze variants of unknown significance (VUSs) found in clinical next generation sequencing (NGS) are labor intensive, requiring manual analysis of published data for each variant.
Amith Rangarajan +7 more
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Identification of Cancer-Associated Proteins in Colorectal Cancer Using Mass Spectrometry [PDF]
ProteomesBackground: Colorectal cancer (CRC) is a leading cause of cancer-related mortality worldwide, with a multifactorial etiology involving genetic and environmental factors. Advanced proteomics offers valuable insights into the molecular mechanisms of cancer,
Naoyuki Toyota +8 more
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Predicting high confidence ctDNA somatic variants with ensemble machine learning models [PDF]
Scientific ReportsCirculating tumour DNA (ctDNA) is a minimally invasive cancer biomarker that can be used to inform treatment of cancer patients. The utility of ctDNA as a cancer biomarker depends on the ability to accurately detect somatic variants associated with ...
Rugare Maruzani +3 more
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Unravelling the instability of mutational signatures extraction via archetypal analysis
Frontiers in Genetics, 2023 The high cosine similarity between some single-base substitution mutational signatures and their characteristic flat profiles could suggest the presence of overfitting and mathematical artefacts.
Corrado Pancotti +5 more
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Journal of Kidney Cancer and VHL, 2023 Papillary renal cell carcinoma (PRCC) is the second most common histological subtype of renal cell cancer. This research aims to present a large database study highlighting the demographic, clinical, and pathological factors, racial disparities ...
Asad Ullah +17 more
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The potential, analysis and prospect of ctDNA sequencing in hepatocellular carcinoma [PDF]
PeerJ, 2022 Background The genome map of hepatocellular carcinoma (HCC) is complex. In order to explore whether circulating tumor cell DNA (ctDNA) can be used as the basis for sequencing and use ctDNA to find tumor related biomarkers, we analyzed the mutant genes of
Yubo Ding +9 more
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New Genetics and Society, 2021 Key to precision medicine is the development of expert database projects that gather data, integrate them in the pre-existing database, and publish the product of their processing for others to make use of.
Niccolò Tempini
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Frontiers in Molecular Biosciences, 2022 The molecular consequences of cancer associated mutations in Acute myeloid leukemia (AML) linked factors are not very well understood. Here, we interrogated the COSMIC database for missense mutations associated with the RUNX1 protein, that is frequently ...
Hanif Ullah +10 more
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