Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1

Unraveling the impact of a germline heterozygous POLD1 frameshift variant in serrated polyposis syndrome

(2023) Laia Bonjoch et al.   Frontiers in Molecular Biosciences

From cue to meaning: The involvement of POLD1 gene in DNA replication, repair and aging

(2023) Michela Murdocca et al.   MECHANISMS OF AGEING AND DEVELOPMENT

Replication DNA polymerases, genome instability and cancer therapies

(2023) Juliet D Strauss et al.   NAR Cancer

Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency

(2022) Anirban Das et al.   NATURE MEDICINE

Novel POLE mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus

(2022) Tomohiro Nakano et al.   JOURNAL OF MEDICAL GENETICS

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

(2022) Vikas Pejaver et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Optimising clinical care throughCDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines

(2022) Xi Luo et al.   JOURNAL OF MEDICAL GENETICS

Considerations for using population frequency data in germline variant interpretation: Cancer syndrome genes as a model

(2021) Aimee L. Davidson et al.   HUMAN MUTATION

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

(2021) Claire Palles et al.   Familial Cancer

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants

(2021) Lucy Loong et al.   GENETICS IN MEDICINE

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

(2021) Astrid Sehested et al.   HUMAN MUTATION

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

(2021) Philip S. Robinson et al.   NATURE GENETICS

The repertoire of mutational signatures in human cancer

(2020) Ludmil B. Alexandrov et al.   NATURE

Relationships Between Immune Landscapes, Genetic Subtypes and Responses to Immunotherapy in Colorectal Cancer

(2020) Emilie Picard et al.   Frontiers in Immunology

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

(2020) Konrad J. Karczewski et al.   NATURE

Role of POLE and POLD1 in familial cancer

(2020) Pilar Mur et al.   GENETICS IN MEDICINE

Considerations in assessing germline variant pathogenicity using cosegregation analysis

(2020) Sophie Belman et al.   GENETICS IN MEDICINE

Filling in the gaps on FILS syndrome: A case report and literature review

(2020) Chelsea Eason et al.   PEDIATRIC DERMATOLOGY

Cancers from novel Pole mutant mouse models provide insights into polymerase-mediated hypermutagenesis and immune checkpoint blockade

(2020) Melissa A. Galati et al.   CANCER RESEARCH

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

Reply to: “Development of an MSI-positive colon tumor with aberrant DNA methylation in a PPAP patient”

(2019) Pilar Mur et al.   JOURNAL OF HUMAN GENETICS

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

(2019) Sarah E. Brnich et al.   Genome Medicine

The ACMG/AMP reputable source criteria for the interpretation of sequence variants

(2018) Leslie G Biesecker et al.   GENETICS IN MEDICINE

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

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

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

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

Current review of TP53 pathogenic germline variants in breast cancer patients outside Li-Fraumeni syndrome

(2018) Cristina Fortuno et al.   HUMAN MUTATION

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

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

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

(2018) Clare V. Logan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

(2018) Jessica L. Mester et al.   HUMAN MUTATION

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants

(2018) Kristy Lee et al.   HUMAN MUTATION

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Using high-resolution variant frequencies to empower clinical genome interpretation

(2017) Nicola Whiffin et al.   GENETICS IN MEDICINE

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

(2016) Katharina Wimmer et al.   Familial Cancer

Immune activation and response to pembrolizumab in POLE-mutant endometrial cancer

(2016) Janice M. Mehnert et al.   JOURNAL OF CLINICAL INVESTIGATION

Immunogenomics of Hypermutated Glioblastoma: A Patient with Germline POLE Deficiency Treated with Checkpoint Blockade Immunotherapy

(2016) T. M. Johanns et al.   Cancer Discovery

Performance evaluation for rapid detection of pan-cancer microsatellite instability with MANTIS

(2016) Esko A. Kautto et al.   Oncotarget

Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma

(2016) Marios Giannakis et al.   Cell Reports

A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes

(2015) Isabelle Thiffault et al.   BMC Medical Genetics

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

SIFT missense predictions for genomes

(2015) Robert Vaser et al.   Nature Protocols

SomaticPOLEmutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis

(2015) E. Zeynep Erson-Omay et al.   NEURO-ONCOLOGY

Mutational landscape determines sensitivity to PD-1 blockade in non-small cell lung cancer

(2015) N. A. Rizvi et al.   SCIENCE

POLE proofreading mutation, immune response and prognosis in endometrial cancer

(2015) Inge C. van Gool et al.   OncoImmunology

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

Prognostic Significance of POLE Proofreading Mutations in Endometrial Cancer

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

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

MSIsensor: microsatellite instability detection using paired tumor-normal sequence data

(2013) Beifang Niu et al.   BIOINFORMATICS

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

Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”)

(2012) Jana Pachlopnik Schmid et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

Features and development ofCoot

(2010) P. Emsley et al.   ACTA CRYSTALLOGRAPHICA SECTION D-BIOLOGICAL CRYSTALLOGRAPHY

A Novel Syndrome of Mandibular Hypoplasia, Deafness, and Progeroid Features Associated with Lipodystrophy, Undescended Testes, and Male Hypogonadism

(2010) Savitha Shastry et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

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

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

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

The fidelity of DNA synthesis by eukaryotic replicative and translesion synthesis polymerases

(2008) Scott D McCulloch et al.   CELL RESEARCH