Increased somatic mutation burdens in normal human cells due to defective DNA polymerases

The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management

(2021) Claire Palles et al.   Familial Cancer

Somatic mutation landscapes at single-molecule resolution

(2021) Federico Abascal et al.   NATURE

Mutational signature in colorectal cancer caused by genotoxic pks+ E. coli

(2020) Cayetano Pleguezuelos-Manzano et al.   NATURE

Pan-cancer analysis of whole genomes

(2020)   NATURE

Tobacco smoking and somatic mutations in human bronchial epithelium

(2020) Kenichi Yoshida et al.   NATURE

The repertoire of mutational signatures in human cancer

(2020) Ludmil B. Alexandrov et al.   NATURE

Genomic footprints of activated telomere maintenance mechanisms in cancer

(2020) Lina Sieverling et al.   Nature Communications

The mutational landscape of normal human endometrial epithelium

(2020) Luiza Moore et al.   NATURE

Pathogenic Mechanisms of Somatic Mutation and Genome Mosaicism in Aging

(2020) Jan Vijg et al.   CELL

Somatic Evolution in Non-neoplastic IBD-Affected Colon

(2020) Sigurgeir Olafsson et al.   CELL

Extensive heterogeneity in somatic mutation and selection in the human bladder

(2020) Andrew R. J. Lawson et al.   SCIENCE

Reliable detection of somatic mutations in solid tissues by laser-capture microdissection and low-input DNA sequencing

(2020) Peter Ellis et al.   Nature Protocols

TelomereHunter – in silico estimation of telomere content and composition from cancer genomes

(2019) Lars Feuerbach et al.   BMC BIOINFORMATICS

Oncogenic mutations in histologically normal endometrium: the new normal?

(2019) Vivian Lac et al.   JOURNAL OF PATHOLOGY

Somatic mutations and clonal dynamics in healthy and cirrhotic human liver

(2019) Simon F. Brunner et al.   NATURE

The landscape of somatic mutation in normal colorectal epithelial cells

(2019) Henry Lee-Six et al.   NATURE

The mutational footprints of cancer therapies

(2019) Oriol Pich et al.   NATURE GENETICS

5-Fluorouracil treatment induces characteristic T>G mutations in human cancer

(2019) Sharon Christensen et al.   Nature Communications

Embryonal precursors of Wilms tumor

(2019) Tim H. H. Coorens et al.   SCIENCE

Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response

(2018) Daniel Temko et al.   JOURNAL OF PATHOLOGY

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

(2018) James H. R. Farmery et al.   Scientific Reports

Functional Analysis of Cancer-Associated DNA Polymerase ε Variants in Saccharomyces cerevisiae

(2018) Stephanie R. Barbari et al.   G3-Genes Genomes Genetics

Polymerase-mediated ultramutagenesis in mice produces diverse cancers with high mutational load

(2018) Hao-Dong Li et al.   JOURNAL OF CLINICAL INVESTIGATION

Prediction of acute myeloid leukaemia risk in healthy individuals

(2018) Sagi Abelson et al.   NATURE

Intra-tumour diversification in colorectal cancer at the single-cell level

(2018) Sophie F. Roerink et al.   NATURE

Population dynamics of normal human blood inferred from somatic mutations

(2018) Henry Lee-Six et al.   NATURE

Clonal Expansion and Diversification of Cancer-Associated Mutations in Endometriosis and Normal Endometrium

(2018) Kazuaki Suda et al.   Cell Reports

Mechanisms regulating zygotic genome activation

(2018) Katharine N. Schulz et al.   NATURE REVIEWS GENETICS

Somatic mutant clones colonize the human esophagus with age

(2018) Iñigo Martincorena et al.   SCIENCE

Somatic Mutations Reveal Lineage Relationships and Age-Related Mutagenesis in Human Hematopoiesis

(2018) Fernando G. Osorio et al.   Cell Reports

The somatic mutation landscape of premalignant colorectal adenoma

(2017) Shu-Hong Lin et al.   GUT

Somatic mutations reveal asymmetric cellular dynamics in the early human embryo

(2017) Young Seok Ju et al.   NATURE

Reduced mutation rate in exons due to differential mismatch repair

(2017) Joan Frigola et al.   NATURE GENETICS

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

(2016) Francis Blokzijl et al.   NATURE

POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance

(2015) Fernando Bellido et al.   GENETICS IN MEDICINE

Clock-like mutational processes in human somatic cells

(2015) Ludmil B Alexandrov et al.   NATURE GENETICS

Timing, rates and spectra of human germline mutation

(2015) Raheleh Rahbari et al.   NATURE GENETICS

High burden and pervasive positive selection of somatic mutations in normal human skin

(2015) I. Martincorena et al.   SCIENCE

Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication

(2014) Eve Shinbrot et al.   GENOME RESEARCH

Genome sequencing of normal cells reveals developmental lineages and mutational processes

(2014) Sam Behjati et al.   NATURE

Intestinal crypt homeostasis revealed at single-stem-cell level by in vivo live imaging

(2014) Laila Ritsma et al.   NATURE

Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence

(2014) Giulio Genovese et al.   NEW ENGLAND JOURNAL OF MEDICINE

Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes

(2014) Siddhartha Jaiswal et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Hallmarks of Aging

(2013) Carlos López-Otín et al.   CELL

Integrated genomic characterization of endometrial carcinoma

(2013) Gad Getz et al.   NATURE

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

Mutational Processes Molding the Genomes of 21 Breast Cancers

(2012) Serena Nik-Zainal et al.   CELL

Comprehensive molecular characterization of human colon and rectal cancer

(2012)   NATURE

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

(2012) Claire Palles et al.   NATURE GENETICS

Integrative DNA Methylation and Gene Expression Analyses Identify DNA Packaging and Epigenetic Regulatory Genes Associated with Low Motility Sperm

(2011) Sara E. Pacheco et al.   PLoS One

Intestinal Crypt Homeostasis Results from Neutral Competition between Symmetrically Dividing Lgr5 Stem Cells

(2010) Hugo J. Snippert et al.   CELL

The high fidelity and unique error signature of human DNA polymerase  

(2010) D. A. Korona et al.   NUCLEIC ACIDS RESEARCH

Allele-specific copy number analysis of tumors

(2010) P. Van Loo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Intestinal Stem Cell Replacement Follows a Pattern of Neutral Drift

(2010) C. Lopez-Garcia et al.   SCIENCE

High fidelity and lesion bypass capability of human DNA polymerase δ

(2009) Michael W. Schmitt et al.   BIOCHIMIE

DNA polymerase   and   proofreading suppress discrete mutator and cancer phenotypes in mice

(2009) T. M. Albertson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing

(2008) Peter J Campbell et al.   NATURE GENETICS