Study

Mutational signatures and clonal dynamics in normal human tissues

Study ID Alternative Stable ID Type
EGAS00001002471 Cancer Genomics

Study Description

Somatic mutations (burdens and signatures) and clonal dynamics in normal human tissues

Study Datasets 6 datasets.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001004192
The colorectal adenoma-carcinoma sequence has provided a paradigmatic framework for understanding the successive somatic genetic events and consequent clonal expansions leading to cancer. As for most cancer types, however, understanding of the earliest phases of colorectal neoplastic change, which may occur in morphologically normal tissue, is comparatively limited because of the difficulty of detecting somatic mutations in normal cells. Each colorectal crypt is a small clone of cells derived ... (Show More)
HiSeq X Ten 578
EGAD00001004547
All normal somatic cells are thought to acquire mutations. However, characterisation of the patterns and consequences of somatic mutation in normal tissues is limited. Uterine endometrium is a dynamic tissue undergoing cyclical shedding and reconstitution lined by a gland-forming epithelium. Whole genome sequencing of normal endometrial glands showed that most are clonal cell populations derived from a recent common ancestor, with mutation burdens differing from other normal cell types and many ... (Show More)
HiSeq X Ten 204
EGAD00001005134
We investigated the somatic genetic basis of Wilms' tumour and found complex phylogenetic relations between tumours
HiSeq X Ten 57
EGAD00001005214
All normal somatic cells are thought to acquire mutations but understanding of the rates, patterns, causes and consequences of somatic mutation in normal cells is limited. Uterine endometrium adopts multiple physiological states over a lifetime and is lined by a gland-forming epithelium. Whole genome sequencing of normal endometrial glands from women aged 19 to 81 years showed them to be clonal cell populations derived from recent common ancestors, with total mutation burdens that increase ... (Show More)
HiSeq X Ten 81
EGAD00001006088
Somatic mutations accumulate in healthy tissues as we age, giving rise to cancer and potentially contributing to ageing. To study somatic mutations in non-neoplastic tissues, we developed a series of protocols to sequence the genomes of small populations of cells isolated from histological sections. Here, we describe a complete workflow that combines laser-capture microdissection (LCM) with low-input genome sequencing, whilst circumventing the use of whole-genome amplification (WGA). The ... (Show More)
HiSeq X Ten,Illumina NovaSeq 6000 18
EGAD00001006641
During the course of a lifetime normal human cells accumulate mutations. Here, using multiple samples from the same individuals we compared the mutational landscape in 29 anatomical structures from soma and the germline. Two ubiquitous mutational signatures, SBS1 and SBS5/40, accounted for the majority of acquired mutations in most cell types but their absolute and relative contributions varied substantially. SBS18, potentially reflecting oxidative damage, and several additional signatures ... (Show More)
HiSeq X Ten,Illumina NovaSeq 6000 667

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