Exploring the landscape of somatic mutations in normal tissue GI LYNCH WGS

Study ID Alternative Stable ID Type
EGAS00001003882 Whole Genome Sequencing

Study Description

Somatic mutations (burdens and signatures) and clonal dynamics in normal human tissues from the gastrointestinal tract of individuals with tumour predisposition syndromes and DNA damage repair defects.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
Lynch Syndrome (LS) is an autosomal dominant disease conferring a high risk of colorectal cancer due to germline heterozygous mutations in a DNA mismatch repair (MMR) gene. Although cancers in LS patients show elevated somatic mutation burdens, information on mutation rates in normal tissues and understanding of the trajectory from normal to cancer cell is limited. Here we whole-genome sequenced 152 crypts from normal and neoplastic epithelial tissues from LS patients. In normal tissues the ... (Show More)
Illumina NovaSeq 6000 161

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