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

Mutation analysis by whole exome sequencing of endometrial hyperplasia and carcinoma in one patient: Abnormalities of polymerase epsilon and the phosphatidylinositol-3 kinase pathway

(2017) Tsutomu Miyamoto et al.   JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH

Regression of Chemotherapy-Resistant Polymerase   (POLE) Ultra-Mutated and MSH6 Hyper-Mutated Endometrial Tumors with Nivolumab

(2016) A. D. Santin et al.   CLINICAL CANCER RESEARCH

APOBEC3G Expression Correlates with T-Cell Infiltration and Improved Clinical Outcomes in High-grade Serous Ovarian Carcinoma

(2016) B. Leonard et al.   CLINICAL CANCER RESEARCH

Clonal neoantigens elicit T cell immunoreactivity and sensitivity to immune checkpoint blockade

(2016) N. McGranahan et al.   SCIENCE

Differential clonal evolution in oesophageal cancers in response to neo-adjuvant chemotherapy

(2016) John M. Findlay et al.   Nature Communications

POLE Proofreading Mutations Elicit an Antitumor Immune Response in Endometrial Cancer

(2015) I. C. van Gool et al.   CLINICAL CANCER RESEARCH

Refining prognosis and identifying targetable pathways for high-risk endometrial cancer; a TransPORTEC initiative

(2015) Ellen Stelloo et al.   MODERN PATHOLOGY

Clonal status of actionable driver events and the timing of mutational processes in cancer evolution

(2015) Nicholas McGranahan et al.   Science Translational Medicine

Association of Polymerase e–Mutated and Microsatellite-Instable Endometrial Cancers With Neoantigen Load, Number of Tumor-Infiltrating Lymphocytes, and Expression of PD-1 and PD-L1

(2015) Brooke E. Howitt et al.   JAMA Oncology

Sequenza: allele-specific copy number and mutation profiles from tumor sequencing data

(2014) F. Favero et al.   ANNALS OF ONCOLOGY

OptiType: precision HLA typing from next-generation sequencing data

(2014) András Szolek et al.   BIOINFORMATICS

A Common Cancer-Associated DNA Polymerase   Mutation Causes an Exceptionally Strong Mutator Phenotype, Indicating Fidelity Defects Distinct from Loss of Proofreading

(2014) D. P. Kane et al.   CANCER 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

POLE exonuclease domain mutation predicts long progression-free survival in grade 3 endometrioid carcinoma of the endometrium

(2014) Bo Meng et al.   GYNECOLOGIC ONCOLOGY

Prognostic Significance of POLE Proofreading Mutations in Endometrial Cancer

(2014) David N. Church et al.   JNCI-Journal of the National Cancer Institute

Elevated APOBEC3B Correlates with Poor Outcomes for Estrogen-Receptor-Positive Breast Cancers

(2014) Anieta M. Sieuwerts et al.   Hormones & Cancer

Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms

(2013) Come Raczy et al.   BIOINFORMATICS

DNA polymerase ɛ and δ exonuclease domain mutations in endometrial cancer

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

Integrated genomic characterization of endometrial carcinoma

(2013) Gad Getz et al.   NATURE

Replication stress links structural and numerical cancer chromosomal instability

(2013) Rebecca A. Burrell et al.   NATURE

Mutational landscape and significance across 12 major cancer types

(2013) Cyriac Kandoth et al.   NATURE

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

(2013) Kristian Cibulskis et al.   NATURE BIOTECHNOLOGY

IntOGen-mutations identifies cancer drivers across tumor types

(2013) Abel Gonzalez-Perez et al.   NATURE METHODS

Strelka: accurate somatic small-variant calling from sequenced tumor–normal sample pairs

(2012) Christopher T. Saunders et al.   BIOINFORMATICS

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

LoFreq: a sequence-quality aware, ultra-sensitive variant caller for uncovering cell-population heterogeneity from high-throughput sequencing datasets

(2012) Andreas Wilm et al.   NUCLEIC ACIDS RESEARCH

Molecular Genetics of Colorectal Cancer

(2011) Eric R. Fearon   Annual Review of Pathology-Mechanisms of Disease

Proliferation of aneuploid human cells is limited by a p53-dependent mechanism

(2010) Sarah L. Thompson et al.   JOURNAL OF CELL BIOLOGY

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH