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Genetic Diversity of Tumors with Mismatch Repair Deficiency Influences Tumor Evolution and Response to PD-1 Blockade

UID: 10541

Description
Summary from BioProject: "Tumors with mismatch repair deficiency (MMR-d) are characterized by sequence alterations in microsatellites and can accumulate thousands of mutations across the genome. This high mutational burden renders these tumors immunogenic and sensitive to PD-1 blockade. However, despite the immunogenicity of these tumors, clinical responses are highly variable, and many patients with MMR-d tumors do not benefit. The determinants of variable response in these tumors remain ill-defined. In this report, we present experimental and clinical evidence demonstrating that this variation is, in part, due to differences in the microsatellite instability (MSI) intensity and resultant mutational accumulation by MMR-d tumors. The intensity of the MSI phenotype dictates response to PD-1 blockade in both murine models and in treated patients. The extent of response is strongly associated with the number of missense and to a greater degree, insertion-deletion (indel) mutations. Furthermore, MMR-d mouse tumors undergo selective immunoediting of subclonal indel and missense mutations in response to PD-1 blockade. This study provides rationale for the genome-wide characterization of mutational burden and MSI intensity to better predict response to PD-1 blockade across MMR-deficient human cancers."
Subject of Study
Subject(s)
OncoTree Cancer Type(s)
Melanoma
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Raw Sequence reads.
Accession #: PRJNA488787

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Sequence reads for 14 samples of mouse Platelet, Protein, and Spleen cells.

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Information about samples for Sequence reads.

Access Restrictions
Free to All
Access Instructions
The BioProject, SRA, and BioSample databases provide open access to these files.
Associated Publications
Data Type
Equipment Used
Illumina HiSeq 2500
Dataset Format(s)
SRA
Dataset Size
0.15 TB (SRA)
Data Catalog Record Updated
2023-12-07