Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis

Collision of germline POLE and PMS2 variants in a young patient treated with immune checkpoint inhibitors

(2022) Enrico Berrino et al.   npj Precision Oncology

Cancer Statistics, 2021

(2021) Rebecca L. Siegel et al.   CA-A CANCER JOURNAL FOR CLINICIANS

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

(2021) Claire Palles et al.   Familial Cancer

Enhancing the landscape of colorectal cancer using targeted deep sequencing

(2021) Chul Seung Lee et al.   Scientific Reports

The diverse molecular profiles of lynch syndrome-associated colorectal cancers are (highly) dependent on underlying germline mismatch repair mutations

(2021) Noah C. Helderman et al.   CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY

Di‐genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition

(2021) Orli Michaeli et al.   CLINICAL GENETICS

The coding microsatellite mutation profile of PMS2-deficient colorectal cancer

(2021) Sanne W. Bajwa - ten Broeke et al.   EXPERIMENTAL AND MOLECULAR PATHOLOGY

Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency

(2021) Astrid Sehested et al.   HUMAN MUTATION

Novel Genetic Causes of Gastrointestinal Polyposis Syndromes

(2021) Anne Marie Jelsig et al.   Application of Clinical Genetics

Genetic Cancer Susceptibility in Adolescents and Adults 25 Years or Younger With Colorectal Cancer

(2021) Marjolijn C.J. Jongmans et al.   GASTROENTEROLOGY

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Clinical, Pathology, Genetic, and Molecular Features of Colorectal Tumors in Adolescents and Adults 25 Years or Younger

(2020) Richarda M. de Voer et al.   Clinical Gastroenterology and Hepatology

Role of POLE and POLD1 in familial cancer

(2020) Pilar Mur et al.   GENETICS IN MEDICINE

Age‐dependent performance of BRAF mutation testing in Lynch syndrome diagnostics

(2020) Hendrik Bläker et al.   INTERNATIONAL JOURNAL OF CANCER

DNA polymerase and mismatch repair exert distinct microsatellite instability signatures in normal and malignant human cells

(2020) Jiil Chung et al.   Cancer Discovery

A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes

(2019) Richard Gallon et al.   HUMAN MUTATION

POLE proofreading defects: Contributions to mutagenesis and cancer

(2019) Vivian S. Park et al.   DNA REPAIR

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

(2019) Mev Dominguez-Valentin et al.   GENETICS IN MEDICINE

Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum

(2019) Fernandez-Rozadilla et al.   Cancers

Three molecular pathways model colorectal carcinogenesis in Lynch syndrome

(2018) Aysel Ahadova et al.   INTERNATIONAL JOURNAL OF CANCER

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

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

Explosive mutation accumulation triggered by heterozygous human Pol ε proofreading-deficiency is driven by suppression of mismatch repair

(2018) Karl P Hodel et al.   eLife

Prevalence of Germline Mutations in Polyposis and Colorectal Cancer-associated Genes in Patients With Multiple Colorectal Polyps

(2018) Peter P. Stanich et al.   Clinical Gastroenterology and Hepatology

Human mismatch repair system balances mutation rates between strands by removing more mismatches from the lagging strand

(2017) Maria A. Andrianova et al.   GENOME RESEARCH

Mismatch repair deficiency commonly precedes adenoma formation in Lynch Syndrome-Associated colorectal tumorigenesis

(2017) Shigeki Sekine et al.   MODERN PATHOLOGY

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MultiQC: summarize analysis results for multiple tools and samples in a single report

(2016) Philip Ewels et al.   BIOINFORMATICS

A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency

(2016) Katharina Wimmer et al.   Familial Cancer

Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing

(2016) Diana Mandelker et al.   GENETICS IN MEDICINE

Colorectal cancer in the very young: a comparative study of tumor markers, pathology and survival in early onset and adult onset patients

(2016) Sajid A. Khan et al.   JOURNAL OF PEDIATRIC SURGERY

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

High Prevalence of Hereditary Cancer Syndromes in Adolescents and Young Adults With Colorectal Cancer

(2015) Maureen E. Mork et al.   JOURNAL OF CLINICAL ONCOLOGY

Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses

(2015) Heleen M. van der Klift et al.   Molecular Genetics & Genomic Medicine

Colorectal Cancer Cell Lines Are Representative Models of the Main Molecular Subtypes of Primary Cancer

(2014) D. Mouradov et al.   CANCER RESEARCH

Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD)

(2014) Katharina Wimmer et al.   JOURNAL OF MEDICAL GENETICS

Comparison of Pre-Analytical FFPE Sample Preparation Methods and Their Impact on Massively Parallel Sequencing in Routine Diagnostics

(2014) Carina Heydt et al.   PLoS One

Surveillance for urinary tract cancer in Lynch syndrome

(2013) Inge Thomsen Bernstein et al.   Familial Cancer

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation

(2013) J. B. Hiatt et al.   GENOME RESEARCH

Base Excision Repair

(2013) H. E. Krokan et al.   Cold Spring Harbor Perspectives in Biology

Snakemake--a scalable bioinformatics workflow engine

(2012) J. Koster et al.   BIOINFORMATICS

Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL

(2012) Annekatrin Wernstedt et al.   GENES CHROMOSOMES & CANCER

Prevalence of mismatch repair-deficient crypt foci in Lynch syndrome: a pathological study

(2012) Matthias Kloor et al.   LANCET ONCOLOGY

Comprehensive molecular characterization of human colon and rectal cancer

(2012)   NATURE

Molecular Genetics of Colorectal Cancer

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

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Distinct features of colorectal cancer in children and adolescents

(2009) Iyad Sultan et al.   CANCER

RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference

(2007) J. Etzler et al.   HUMAN MUTATION