scholarly journals Analysis of allelic imbalances at multiple cancer-related chromosomal loci and microsatellite instability within the same tumor using a single tumor gland from colorectal carcinomas

2005 ◽  
Vol 114 (3) ◽  
pp. 337-345 ◽  
Author(s):  
Tamotsu Sugai ◽  
Wataru Habano ◽  
Yu-Fei Jiao ◽  
Masamichi Suzuki ◽  
Ryo Takagi ◽  
...  
Keyword(s):  
Microsatellite Instability ◽  
Colorectal Carcinomas ◽  
Multiple Cancer ◽  
Chromosomal Loci ◽  
Single Tumor

scholarly journals The role of autophagy in the treatment of BRAF mutant colorectal carcinomas differs based on microsatellite instability status

PLoS ONE ◽  
2018 ◽  
Vol 13 (11) ◽  
pp. e0207227 ◽  
Author(s):  
Evangelos Koustas ◽  
Athanasios G. Papavassiliou ◽  
Michalis V. Karamouzis
Keyword(s):  
Microsatellite Instability ◽  
Colorectal Carcinomas ◽  
Braf Mutant

scholarly journals Landscape of Microsatellite Instability Across 39 Cancer Types

2017 ◽  
pp. 1-15 ◽  
Author(s):  
Russell Bonneville ◽  
Melanie A. Krook ◽  
Esko A. Kautto ◽  
Jharna Miya ◽  
Michele R. Wing ◽  
...  
Keyword(s):  
Microsatellite Instability ◽  
Mismatch Repair ◽  
Human Cancer ◽  
The Cancer Genome Atlas ◽  
Repair System ◽  
Multiple Cancer ◽  
External Data ◽  
Mismatch Repair System ◽  
Cancer Types ◽  
Genomic Microsatellites

Purpose Microsatellite instability (MSI) is a pattern of hypermutation that occurs at genomic microsatellites and is caused by defects in the mismatch repair system. Mismatch repair deficiency that leads to MSI has been well described in several types of human cancer, most frequently in colorectal, endometrial, and gastric adenocarcinomas. MSI is known to be both predictive and prognostic, especially in colorectal cancer; however, current clinical guidelines only recommend MSI testing for colorectal and endometrial cancers. Therefore, less is known about the prevalence and extent of MSI among other types of cancer. Methods Using our recently published MSI-calling software, MANTIS, we analyzed whole-exome data from 11,139 tumor-normal pairs from The Cancer Genome Atlas and Therapeutically Applicable Research to Generate Effective Treatments projects and external data sources across 39 cancer types. Within a subset of these cancer types, we assessed mutation burden, mutational signatures, and somatic variants associated with MSI. Results We identified MSI in 3.8% of all cancers assessed—present in 27 of tumor types—most notably adrenocortical carcinoma (ACC), cervical cancer (CESC), and mesothelioma, in which MSI has not yet been well described. In addition, MSI-high ACC and CESC tumors were observed to have a higher average mutational burden than microsatellite-stable ACC and CESC tumors. Conclusion We provide evidence of as-yet-unappreciated MSI in several types of cancer. These findings support an expanded role for clinical MSI testing across multiple cancer types as patients with MSI-positive tumors are predicted to benefit from novel immunotherapies in clinical trials.

WNT1 inducible signaling pathway protein 3, WISP-3, a novel target gene in colorectal carcinomas with microsatellite instability

2001 ◽  
Vol 121 (6) ◽  
pp. 1275-1280 ◽  
Author(s):  
Lin Thorstensen ◽  
Chieu B. Diep ◽  
Gunn I. Meling ◽  
Trude H. Aagesen ◽  
Christian H. Ahrens ◽  
...  
Keyword(s):  
Microsatellite Instability ◽  
Signaling Pathway ◽  
Target Gene ◽  
Colorectal Carcinomas ◽  
Novel Target

Frameshift mutations of ATBF1, WNT9A, CYLD and PARK2 in gastric and colorectal carcinomas with high microsatellite instability

Pathology ◽  
2010 ◽  
Vol 42 (6) ◽  
pp. 583-585 ◽  
Author(s):  
Chang Hyeok An ◽  
Sung Soo Kim ◽  
Mi Ran Kang ◽  
Yoo Ri Kim ◽  
Ho Shik Kim ◽  
...  
Keyword(s):  
Microsatellite Instability ◽  
Colorectal Carcinomas ◽  
Frameshift Mutations

APC and CTNNB1 Mutations in a Large Series of Sporadic Colorectal Carcinomas Stratified by the Microsatellite Instability Status

2002 ◽  
Vol 37 (10) ◽  
pp. 1184-1193 ◽  
Author(s):  
T. Løvig ◽  
G. I. Meling ◽  
C. B. Diep ◽  
L. Thorstensen ◽  
S. Norheim Andersen ◽  
...  
Keyword(s):  
Microsatellite Instability ◽  
Large Series ◽  
Colorectal Carcinomas

Genomic and immune infiltration differences between MSI and MSS GI tumors.

2019 ◽  
Vol 37 (4_suppl) ◽  
pp. 528-528
Author(s):  
Yulia Newton ◽  
Justin Golovato ◽  
Iain Beehuat Tan ◽  
Justina Yick Ching Lam ◽  
Guo Yu ◽  
...  
Keyword(s):  
Microsatellite Instability ◽  
Variant Calling ◽  
Multiple Cancer ◽  
Immune Signaling ◽  
Gene Markers ◽  
Immune Infiltration ◽  
Dna Mismatch ◽  
Cellular Integrity ◽  
Type Gene ◽  
Tumor Types

528 Background: Dysregulation of DNA mismatch repair pathway can lead to microsatellite instability in many GI tumors, and microsatellite instability is an important diagnostic and prognostic marker. Microsatellite instable (MSI) tumors comprise about 15% of colorectal malignancies and can be found in other gastrointestinal (GI) tumor types. We present results of analysis of genomic and immune infiltration differences between MSI and microsatellite stable (MSS) GI tumors spanning multiple cancer types. Methods: A total of 521 GI patients with deep whole exome sequencing (WES) of tumor and blood samples, and whole transcriptomic sequencing (RNA-Seq) (∼200M reads per tumor) were available for this analysis from a commercial database. Variant calling was performed through joint probabilistic analysis of tumor and normal DNA reads, with germline status of variants being determined by heterozygous or homozygous alternate allele fraction in the germline sample. Results: Gene expression and pathway analysis found significantly higher immune signaling in MSI cohort and higher metabolic signaling in MSS cohort. We also found upregulation of structural cellular integrity pathways in MSI tumors. Per-sample deconvolution of immune infiltration using cell type gene markers shows some MSI samples with high CD8 T-cells. Co-expression analysis of checkpoint and TME genes shows higher correlation of FOXP3 and CTLA4 in the MSS cohort compared to the MSI samples, whereas correlation between FOXP3 and PDL1 is decreased. TIM3, LAG3, and OX40 are significantly more expressed in MSI samples than MSS samples. Within the subset of colorectal tumors, additional checkpoints are significantly differentially overexpressed in MSI malignancies. 50 somatic variants are significantly differential in MSI tumors. Conclusions: MSI tumors demonstrably exhibit higher immune signaling, with many immune and checkpoint markers expressed at higher levels in MSI tumors. Some cellular integrity pathways also appear to be up in MSI cohort. A number of potentially important somatic variants are associated with MSI samples.

scholarly journals Analyses of the APC and TGF-β Type II Receptor Genes, and Microsatellite Instability in Mucosal Colorectal Carcinomas

1997 ◽  
Vol 88 (8) ◽  
pp. 718-724 ◽  
Author(s):  
Osmar Kenji Yagi ◽  
Yoshimitsu Akiyama ◽  
Yasuo Ohkura ◽  
Shin-ichi Ban ◽  
Mitsuo Endo ◽  
...  
Keyword(s):  
Microsatellite Instability ◽  
Type Ii ◽  
Colorectal Carcinomas
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