Colorectal adenomas contain multiple somatic mutations that do not coincide with synchronous adenocarcinoma specimens

PloS One
José P VaquéMiguel A Piris

Abstract

We have performed a comparative ultrasequencing study of multiple colorectal lesions obtained simultaneously from four patients. Our data show that benign lesions (adenomatous or hyperplastic polyps) contain a high mutational load. Additionally multiple synchronous colorectal lesions show non overlapping mutational signatures highlighting the degree of heterogeneity between multiple specimens in the same patient. Observations in these cases imply that considering not only the number of mutations but an effective oncogenic combination of mutations can determine the malignant progression of colorectal lesions.

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Citations

Nov 30, 2019·Gastroenterology Research and Practice·Jakub KarczmarskiJerzy Ostrowski
Dec 31, 2020·International Journal of Molecular Sciences·Ahmed MalkiAla-Eddin Al Moustafa

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Datasets Mentioned

BETA
SRP040626

Methods Mentioned

BETA
exome sequencing
PCR

Software Mentioned

GATK indel realigner
Ensembl
BFAST
GEM
RAMSES
Picard
RAMSES Assisted Minimum Evidence Spotter
BLAT
BWA
SAMtools

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Cancer genomics approaches employ high-throughput technologies to identify the complete catalog of somatic alterations that characterize the genome, transcriptome and epigenome of cohorts of tumor samples. Discover the latest research using such technologies in this feed.