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 …

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 …

Widespread aneuploidy revealed by DNA microarray expression profiling

TR Hughes, CJ Roberts, H Dai, AR Jones, MR Meyer… - Nature …, 2000 - nature.com
Expression profiling using DNA microarrays holds great promise for a variety of research
applications, including the systematic characterization of genes discovered by sequencing …

A high-resolution survey of deletion polymorphism in the human genome

DF Conrad, TD Andrews, NP Carter, ME Hurles… - Nature …, 2006 - nature.com
Recent work has shown that copy number polymorphism is an important class of genetic
variation in human genomes,,,. Here we report a new method that uses SNP genotype data …

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

T Gao, ME Kastriti, V Ljungström, A Heinzel… - Nature …, 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 …

[HTML][HTML] Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome

B Rodríguez-Santiago, N Malats, N Rothman… - The American Journal of …, 2010 - cell.com
Mosaicism is defined as the coexistence of cells with different genetic composition within an
individual, caused by postzygotic somatic mutation. Although somatic mosaicism for …

Association between large detectable clonal mosaicism and type 2 diabetes with vascular complications

A Bonnefond, B Skrobek, S Lobbens, E Eury… - Nature …, 2013 - nature.com
Large chromosomal clonal mosaic events (CMEs) have been suggested to be linked to
aging,, and to predict cancer,. Type 2 diabetes (T2D) has been conceptualized as an …

Somatic point mutations occurring early in development: a monozygotic twin study

R Li, A Montpetit, M Rousseau, SYM Wu… - Journal of medical …, 2014 - jmg.bmj.com
The identification of somatic driver mutations in cancer has enabled therapeutic advances
by identifying drug targets critical to disease causation. However, such genomic discoveries …

Genome-wide analysis of DNA copy-number changes using cDNA microarrays

JR Pollack, CM Perou, AA Alizadeh, MB Eisen… - Nature …, 1999 - nature.com
Gene amplifications and deletions frequently contribute to tumorigenesis. Characterization
of these DNA copy-number changes is important for both the basic understanding of cancer …

Chromosomal alterations among age-related haematopoietic clones in Japan

C Terao, A Suzuki, Y Momozawa, M Akiyama… - Nature, 2020 - nature.com
The extent to which the biology of oncogenesis and ageing are shaped by factors that
distinguish human populations is unknown. Haematopoietic clones with acquired mutations …