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Microsatellite instability (MSI) testing identifies patients who may benefit from immune checkpoint inhibitors. We developed an MSI assay that uses data from a commercially available next‐generation sequencing (NGS) panel to determine MSI status.
A. Vanderwalde+4 more
semanticscholar +1 more source
Microsatellite Instability and Colorectal Cancer
Context.—About 15% of colorectal cancers are characterized by genomic microsatellite instability, and of these, about 1 in 5 (2%–4% overall) are due to Lynch syndrome, a dominantly inherited condition predisposing the patient to cancers of multiple organ systems, including the gastrointestinal tract.
Wade S. Samowitz+1 more
openaire +2 more sources
Metabolic enrichment through functional gene rules [PDF]
It is well known that tumors originating from the same tissue have different prognosis and sensitivity to treatments. Over the last decade, cancer genomics consortia like the Cancer Genome Atlas (TCGA) have been generating thousands of cross-sectional data, for thousands of human primary tumors originated from various tissues.
arxiv
Prevalence of established and emerging biomarkers of immune checkpoint inhibitor response in advanced hepatocellular carcinoma. [PDF]
The clinical deployment of immune checkpoint inhibitors (ICIs) has created a tandem drive for the identification of biomarkers linked to benefit. Comprehensive genomic profiling was performed to evaluate the frequency of genomic biomarkers of ICI ...
Ali, Siraj M+10 more
core +1 more source
Association between family history and mismatch repair in colorectal cancer [PDF]
BACKGROUND AND AIMS: Germline mutations in mismatch repair (MMR) genes cause a greatly increased risk of cancer of the gastrointestinal and female reproductive tracts (hereditary non-polyposis colorectal cancer (HNPCC)).
Bell, S.M.+6 more
core +2 more sources
Importance Primary resistance to immune checkpoint inhibitors is observed in 10% to 40% of patients with metastatic colorectal cancer (mCRC) displaying microsatellite instability (MSI) or defective mismatch repair (dMMR).
R. Cohen+12 more
semanticscholar +1 more source
Pan‐cancer analysis shapes the understanding of cancer biology and medicine
Abstract Advances in multi‐omics datasets and analytical methods have revolutionized cancer research, offering a comprehensive, pan‐cancer perspective. Pan‐cancer studies identify shared mechanisms and unique traits across different cancer types, which are reshaping diagnostic and treatment strategies.
Xiaoping Cen+21 more
wiley +1 more source
Purpose: To analytically and clinically validate microsatellite instability (MSI) detection using cell-free DNA (cfDNA) sequencing. Experimental Design: Pan-cancer MSI detection using Guardant360 was analytically validated according to established ...
J. Willis+31 more
semanticscholar +1 more source
Microsatellite Instability in Malignant Melanomas
Microsatellite instability (MSI) is caused by deficient DNA mismatch repair, and results in a "mutator" phenotype. Recent studies have produced contradictory results about the frequency and significance of MSI in malignant melanomas. In this study, we therefore determined the time of onset and relative frequency of MSI during the progression of ...
Michael Landthaler+4 more
openaire +4 more sources
Clinicopathological Characteristics of Colorectal Cancer with Family History: an Evaluation of Family History as a Predictive Factor for Microsatellite Instability [PDF]
To determine whether family history of cancer may be a risk factor for the mutator phenotype in colorectal cancer, we recruited 143 consecutive colorectal cancer patients with a family history of accompanying cancers not meeting the Amsterdam criteria ...
Abdel-Rahman+33 more
core +2 more sources