RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues
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 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 …
lifetime. The majority of these mutations do not have a noticeable effect, but some can alter …
Somatic mutation landscapes at single-molecule resolution
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 …
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 …
variation, which is the substrate for evolution. Such differences may be small [normally about …
Genome-wide analysis of somatic noncoding mutation patterns in cancer
We established a genome-wide compendium of somatic mutation events in 3949 whole
cancer genomes representing 19 tumor types. Protein-coding events captured well …
cancer genomes representing 19 tumor types. Protein-coding events captured well …
Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability
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 …
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 …
is associated with various age-related diseases, including cancer,. Extreme variation in …
Aging and neurodegeneration are associated with increased mutations in single human neurons
It has long been hypothesized that aging and neurodegeneration are associated with
somatic mutation in neurons; however, methodological hurdles have prevented testing this …
somatic mutation in neurons; however, methodological hurdles have prevented testing this …
The consensus coding sequences of human breast and colorectal cancers
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 …
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 …
that, as we age, these tissues become colonized by mutant clones of cells carrying driver …