Mutational processes of distinct POLE exonuclease domain mutants drive an enrichment of a specific TP53 mutation in colorectal cancer

Structural consequence of the most frequently recurring cancer-associated substitution in DNA polymerase ε

(2019) Vimal Parkash et al.   Nature Communications

Local Determinants of the Mutational Landscape of the Human Genome

(2019) Abel Gonzalez-Perez et al.   CELL

Clinical Sequencing Defines the Genomic Landscape of Metastatic Colorectal Cancer

(2018) Rona Yaeger et al.   CANCER CELL

DNA Replication and associated repair pathways are involved in the mutagenesis of methylated cytosine

(2018) Marketa Tomkova et al.   DNA REPAIR

DNA Modifications: Naturally More Error Prone?

(2018) Marketa Tomkova et al.   TRENDS IN GENETICS

The effects of mutational processes and selection on driver mutations across cancer types

(2018) Daniel Temko et al.   Nature Communications

Distinct mutational signatures characterize concurrent loss of polymerase proofreading and mismatch repair

(2018) N. J. Haradhvala et al.   Nature Communications

Somatic and Germline Mutation Periodicity Follow the Orientation of the DNA Minor Groove around Nucleosomes

(2018) Oriol Pich et al.   CELL

The CMG Helicase Bypasses DNA-Protein Cross-Links to Facilitate Their Repair

(2018) Justin L. Sparks et al.   CELL

Analysis of 7,815 cancer exomes reveals associations between mutational processes and somatic driver mutations

(2018) Rebecca C. Poulos et al.   PLoS Genetics

Nucleosome positions establish an extended mutation signature in melanoma

(2018) Alexander J. Brown et al.   PLoS Genetics

Reduced mutation rate in exons due to differential mismatch repair

(2017) Joan Frigola et al.   NATURE GENETICS

The interaction between cytosine methylation and processes of DNA replication and repair shape the mutational landscape of cancer genomes

(2017) Rebecca C. Poulos et al.   NUCLEIC ACIDS RESEARCH

Regulation and Modulation of Human DNA Polymerase δ Activity and Function

(2017) et al.   Genes

Mutational Strand Asymmetries in Cancer Genomes Reveal Mechanisms of DNA Damage and Repair

(2016) Nicholas J. Haradhvala et al.   CELL

Nucleotide excision repair is impaired by binding of transcription factors to DNA

(2016) Radhakrishnan Sabarinathan et al.   NATURE

Differential DNA repair underlies mutation hotspots at active promoters in cancer genomes

(2016) Dilmi Perera et al.   NATURE

Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma

(2016) Marios Giannakis et al.   Cell Reports

Mutational Biases Drive Elevated Rates of Substitution at Regulatory Sites across Cancer Types

(2016) Vera B. Kaiser et al.   PLoS Genetics

Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers

(2015) Anne ML Jansen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Differential DNA mismatch repair underlies mutation rate variation across the human genome

(2015) Fran Supek et al.   NATURE

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

CTCF/cohesin-binding sites are frequently mutated in cancer

(2015) Riku Katainen et al.   NATURE GENETICS

ENCODE data at the ENCODE portal

(2015) Cricket A. Sloan et al.   NUCLEIC ACIDS RESEARCH

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

(2014) Eve Shinbrot et al.   GENOME RESEARCH

Structure-based Analysis of DNA Sequence Patterns Guiding Nucleosome Positioningin vitro

(2014) Feng Cui et al.   JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS

DNA polymerase ɛ and δ exonuclease domain mutations in endometrial cancer

(2013) David N. Church et al.   HUMAN MOLECULAR GENETICS

Germline and somatic polymerase ϵ and δ mutations define a new class of hypermutated colorectal and endometrial cancers

(2013) Sarah Briggs et al.   JOURNAL OF PATHOLOGY

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

Deciphering Signatures of Mutational Processes Operative in Human Cancer

(2013) Ludmil B. Alexandrov et al.   Cell Reports

Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation

(2012) Amnon Koren et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recurrent R-spondin fusions in colon cancer

(2012) Somasekar Seshagiri et al.   NATURE

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

The cBio Cancer Genomics Portal: An Open Platform for Exploring Multidimensional Cancer Genomics Data: Figure 1.

(2012) Ethan Cerami et al.   Cancer Discovery

Controls of Nucleosome Positioning in the Human Genome

(2012) Daniel J. Gaffney et al.   PLoS Genetics

Variation in the mutation rate across mammalian genomes

(2011) Alan Hodgkinson et al.   NATURE REVIEWS GENETICS