ArticleNucleic acids research2016
The landscape of somatic mutations in protein coding genes in apparently benign human tissues carries signatures of relaxed purifying selection.
Article in Nucleic acids research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed.
- The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts.PLoS genetics · 2016Trial
- Scrutiny of genome-wide somatic mutation profiles in centenarians identifies the key genomic regions for human longevity.Aging cell · 2024Article
- Integrating genetic and nongenetic drivers of somatic evolution during carcinogenesis: The biplane model.Evolutionary applications · 2020Article
- A somatic evolutionary model of the dynamics of aneuploid cells during hematopoietic reconstitution.Scientific reports · 2020Article
- Large-scale analysis of acquired chromosomal alterations in non-tumor samples from patients with cancer.Nature biotechnology · 2020Article
- High degree of polyclonality hinders somatic mutation calling in lung brush samples of COPD cases and controls.Scientific reports · 2019Article
- The somatic mutation landscape of the human body.Genome biology · 2019Article
- Ultra-Sensitive TP53 Sequencing for Cancer Detection Reveals Progressive Clonal Selection in Normal Tissue over a Century of Human Lifespan.Cell reports · 2019Article
- Review
- Review
- Frequency and signature of somatic variants in 1461 human brain exomes.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Mutational signatures and mutable motifs in cancer genomes.Briefings in bioinformatics · 2018Review
- Forward and reverse mutations in stages of cancer development.Human genomics · 2018Article
- Distinctive types of postzygotic single-nucleotide mosaicisms in healthy individuals revealed by genome-wide profiling of multiple organs.PLoS genetics · 2018Article
- Aging and the rise of somatic cancer-associated mutations in normal tissues.PLoS genetics · 2018Review
- DNA polymerase η mutational signatures are found in a variety of different types of cancer.Cell cycle (Georgetown, Tex.) · 2018Article
- Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort.Scientific reports · 2017Article
- Myxoid fibroadenomas differ from conventional fibroadenomas: a hypothesis-generating study.Histopathology · 2017Article
- DNA helix: the importance of being AT-rich.Mammalian genome : official journal of the International Mammalian Genome Society · 2017Article
- Circulating tumor DNA detection in head and neck cancer: evaluation of two different detection approaches.Oncotarget · 2017Article
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3 authors.
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Abstract
Mutations acquired during development and aging lead to inter- and intra-tissue genetic variations. Evidence linking such mutations to complex traits and diseases is rising. We detected somatic mutations in protein-coding regions in 140 benign tissue samples representing nine tissue-types (bladder, breast, liver, lung, prostate, stomach, thyroid, head and neck) and paired blood from 70 donors. A total of 80% of the samples had 2-39 mutations detectable at tissue-level resolution. Factors such as age and smoking were associated with increased burden of detectable mutations, and tissues carried signatures of distinct mutagenic processes such as oxidative DNA damage and transcription-coupled repair. Using mutational signatures, we predicted that majority of the mutations in blood originated in hematopoietic stem and early progenitor cells. Missense to silent mutations ratio and the persistence of potentially damaging mutations in expressed genes carried signatures of relaxed purifying selection. Our findings have relevance for etiology, diagnosis and treatment of diseases including cancer.
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