Mutation rates and fitness consequences of mosaic chromosomal alterations in blood

CJ Watson, JR Blundell - Nature genetics, 2023 - nature.com
Mosaic chromosomal alterations (mCAs) are common in cancers and can arise decades
before diagnosis. A quantitative understanding of the rate at which these events occur, and …

A pan-tissue survey of mosaic chromosomal alterations in 948 individuals

T Gao, ME Kastriti, V Ljungström, A Heinzel… - Nature Genetics, 2023 - nature.com
Genetic mutations accumulate in an organism's body throughout its lifetime. While somatic
single-nucleotide variants have been well characterized in the human body, the patterns …

Detectable clonal mosaicism and its relationship to aging and cancer

KB Jacobs, M Yeager, W Zhou, S Wacholder, Z Wang… - Nature …, 2012 - nature.com
In an analysis of 31,717 cancer cases and 26,136 cancer-free controls from 13 genome-
wide association studies, we observed large chromosomal abnormalities in a subset of …

Detectable clonal mosaicism from birth to old age and its relationship to cancer

CC Laurie, CA Laurie, K Rice, KF Doheny, LR Zelnick… - Nature …, 2012 - nature.com
We detected clonal mosaicism for large chromosomal anomalies (duplications, deletions
and uniparental disomy) using SNP microarray data from over 50,000 subjects recruited for …

Genetics of autosomal mosaic chromosomal alteration (mCA)

X Liu, Y Kamatani, C Terao - Journal of Human Genetics, 2021 - nature.com
Mosaic chromosomal alterations (mCAs) are frequently observed in cancer cells and are
regarded as one of the common features of cancers. Strikingly, accumulating studies …

Incident disease associations with mosaic chromosomal alterations on autosomes, X and Y chromosomes: insights from a phenome-wide association study in the UK …

SH Lin, DW Brown, B Rose, F Day, OW Lee, SM Khan… - Cell & bioscience, 2021 - Springer
Background Mosaic chromosomal alterations (mCAs) are large chromosomal gains, losses
and copy-neutral losses of heterozygosity (LOH) in peripheral leukocytes. While many …

Large-scale analysis of acquired chromosomal alterations in non-tumor samples from patients with cancer

YA Jakubek, K Chang, S Sivakumar, Y Yu… - Nature …, 2020 - nature.com
Mosaicism, the presence of subpopulations of cells bearing somatic mutations, is associated
with disease and aging and has been detected in diverse tissues, including apparently …

Exploring the variation within

EZ Macosko, SA McCarroll - Nature genetics, 2012 - nature.com
Exploring the variation within | Nature Genetics Skip to main content Thank you for visiting
nature.com. You are using a browser version with limited support for CSS. To obtain the best …

The ageing genome, clonal mosaicism and chronic disease

MJ Machiela, SJ Chanock - Current opinion in genetics & development, 2017 - Elsevier
Clonal mosaicism arises when a postzygotic mutational event is detectable in
subpopulations of cells as an alternative genotype while not present in the germline …

Interplay between chromosomal alterations and gene mutations shapes the evolutionary trajectory of clonal hematopoiesis

T Gao, R Ptashkin, KL Bolton, M Sirenko… - Nature …, 2021 - nature.com
Stably acquired mutations in hematopoietic cells represent substrates of selection that may
lead to clonal hematopoiesis (CH), a common state in cancer patients that is associated with …