RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues

K Yizhak, F Aguet, J Kim, JM Hess, K Kübler, J Grimsby… - Science, 2019 - science.org
INTRODUCTION Cancer genome studies have contributed to the analysis and discovery of
somatic mutations that drive cancer growth. However, studying the genetic makeup of a …

Somatic mutation in cancer and normal cells

I Martincorena, PJ Campbell - Science, 2015 - science.org
Spontaneously occurring mutations accumulate in somatic cells throughout a person's
lifetime. The majority of these mutations do not have a noticeable effect, but some can alter …

Somatic mutation landscapes at single-molecule resolution

F Abascal, LMR Harvey, E Mitchell, ARJ Lawson… - Nature, 2021 - nature.com
Somatic mutations drive the development of cancer and may contribute to ageing and other
diseases,. Despite their importance, the difficulty of detecting mutations that are only present …

Heterogeneity and tumor history

D Shibata - Science, 2012 - science.org
All cells are almost perfect copies of prior cells. Imperfect DNA replication creates random
variation, which is the substrate for evolution. Such differences may be small [normally about …

Genome-wide analysis of somatic noncoding mutation patterns in cancer

F Dietlein, AB Wang, C Fagre, A Tang, NJM Besselink… - Science, 2022 - science.org
We established a genome-wide compendium of somatic mutation events in 3949 whole
cancer genomes representing 19 tumor types. Protein-coding events captured well …

Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability

T Bae, L Fasching, Y Wang, JH Shin, M Suvakov… - Science, 2022 - science.org
We analyzed 131 human brains (44 neurotypical, 19 with Tourette syndrome, 9 with
schizophrenia, and 59 with autism) for somatic mutations after whole genome sequencing to …

Tissue-specific mutation accumulation in human adult stem cells during life

F Blokzijl, J De Ligt, M Jager, V Sasselli, S Roerink… - Nature, 2016 - nature.com
The gradual accumulation of genetic mutations in human adult stem cells (ASCs) during life
is associated with various age-related diseases, including cancer,. Extreme variation in …

Aging and neurodegeneration are associated with increased mutations in single human neurons

MA Lodato, RE Rodin, CL Bohrson, ME Coulter… - Science, 2018 - science.org
It has long been hypothesized that aging and neurodegeneration are associated with
somatic mutation in neurons; however, methodological hurdles have prevented testing this …

The consensus coding sequences of human breast and colorectal cancers

T Sjoblom, S Jones, LD Wood, DW Parsons, J Lin… - science, 2006 - science.org
The elucidation of the human genome sequence has made it possible to identify genetic
alterations in cancers in unprecedented detail. To begin a systematic analysis of such …

Somatic mutation and clonal expansions in human tissues

I Martincorena - Genome Medicine, 2019 - Springer
Editorial summary Recent sequencing studies on healthy skin and esophagus have found
that, as we age, these tissues become colonized by mutant clones of cells carrying driver …