POLE, POLD1, and NTHL1: the last but not the least hereditary cancer-predisposing genes

Definition and management of colorectal polyposis not associated with APC/MUTYH germline pathogenic variants: AIFEG consensus statement

(2021) Emanuele Damiano Luca Urso et al.   DIGESTIVE AND LIVER DISEASE

Clinical, pathological, and PAM50 gene expression features of HER2-low breast cancer

(2021) Francesco Schettini et al.   npj Breast Cancer

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

(2021) Claire Palles et al.   Familial Cancer

The Spectrum of Benefit from Checkpoint Blockade in Hypermutated Tumors

(2021) Benoit Rousseau et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

(2021) Rong Mao et al.   GENETICS IN MEDICINE

Clinicopathological characteristics and prognostic value of POLE mutations in endometrial cancer

(2020) Ya He et al.   MEDICINE

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

(2020) Hu Fang et al.   PLoS Genetics

Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction

(2020) Nadim Hamzaoui et al.   GENETICS IN MEDICINE

Role of POLE and POLD1 in familial cancer

(2020) Pilar Mur et al.   GENETICS IN MEDICINE

NTHL1 in genomic integrity, aging and cancer

(2020) Lipsa Das et al.   DNA REPAIR

National recommendations of the French Genetics and Cancer Group - Unicancer on the modalities of multi-genes panel analyses in hereditary predispositions to tumors of the digestive tract.

(2020) Marion Dhooge et al.   European Journal of Medical Genetics

Monoallelic NTHL1 Loss-of-Function Variants and Risk of Polyposis and Colorectal Cancer

(2020) Fadwa A. Elsayed et al.   GASTROENTEROLOGY

New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients

(2020) Malene Djursby et al.   Frontiers in Genetics

POLE and POLD1 pathogenic variants in the proofreading domain in papillary thyroid cancer

(2020) Abdul K Siraj et al.   Endocrine Connections

Detection of Germline Mutations in a Cohort of 139 Patients with Bilateral Breast Cancer by Multi-Gene Panel Testing: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2

(2020) Daniele Fanale et al.   Cancers

Tumor Mutational Burden as a Predictor of Immunotherapy Response: Is More Always Better?

(2020) John H. Strickler et al.   CLINICAL CANCER RESEARCH

Tyrosine kinase inhibitor discontinuation in patients with chronic myeloid leukemia: a single-institution experience

(2019) Kamal Chamoun et al.   Journal of Hematology & Oncology

Phenotype of POLE-mutated endometrial cancer

(2019) Sara Imboden et al.   PLoS One

NTHL1-associate polyposis: first Australian case report

(2019) Alexandra Groves et al.   Familial Cancer

Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype

(2019) Judith E. Grolleman et al.   CANCER CELL

POLD1 deficiency is involved in cognitive function impairment in AD patients and SAMP8 mice

(2019) Shichao Gao et al.   BIOMEDICINE & PHARMACOTHERAPY

NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas

(2019) Sami Belhadj et al.   Scientific Reports

Tumor mutational burden quantification from targeted gene panels: major advancements and challenges

(2019) Laura Fancello et al.   Journal for ImmunoTherapy of Cancer

Morphologic, Immunophenotypic and Molecular Features of Hypermutation in Colorectal Carcinomas with Mutations in DNA Polymerase Ɛ ( POLE )

(2019) Erna Forgó et al.   HISTOPATHOLOGY

Evaluation of POLE and POLD1 Mutations as Biomarkers for Immunotherapy Outcomes Across Multiple Cancer Types

(2019) Feng Wang et al.   JAMA Oncology

Hereditary gastrointestinal cancers: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up†

(2019) N Stjepanovic et al.   ANNALS OF ONCOLOGY

The missing heritability of familial colorectal cancer

(2019) Stephanie A Schubert et al.   MUTAGENESIS

Germline POLE and POLD1 proofreading domain mutations in endometrial carcinoma from Middle Eastern region

(2019) Abdul K. Siraj et al.   Cancer Cell International

Interpretation of somatic POLE mutations in endometrial carcinoma

(2019) Alicia León‐Castillo et al.   JOURNAL OF PATHOLOGY

Overexpression of the base excision repair NTHL1 glycosylase causes genomic instability and early cellular hallmarks of cancer

(2018) Kristin L Limpose et al.   NUCLEIC ACIDS RESEARCH

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

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

POLD1 and POLE Gene Mutations in Jewish Cohorts of Early-Onset Colorectal Cancer and of Multiple Colorectal Adenomas

(2018) Guy Rosner et al.   DISEASES OF THE COLON & RECTUM

Germline mutation p.N363K in POLE is associated with an increased risk of colorectal cancer and giant cell glioblastoma

(2018) P. Vande Perre et al.   Familial Cancer

Mutational signature analysis identifies MUTYH deficiency in colorectal cancers and adrenocortical carcinomas

(2017) Camilla Pilati et al.   JOURNAL OF PATHOLOGY

NTHL1 and MUTYH polyposis syndromes: two sides of the same coin?

(2017) Robbert DA Weren et al.   JOURNAL OF PATHOLOGY

Response to PD-1 Blockade in Microsatellite Stable Metastatic Colorectal Cancer Harboring aPOLEMutation

(2017) Jun Gong et al.   Journal of the National Comprehensive Cancer Network

Nucleotide selectivity defect and mutator phenotype conferred by a colon cancer-associated DNA polymerase δ mutation in human cells

(2017) T M Mertz et al.   ONCOGENE

Use of CRISPR-modified human stem cell organoids to study the origin of mutational signatures in cancer

(2017) Jarno Drost et al.   SCIENCE

POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer

(2017) Clara Esteban-Jurado et al.   Oncotarget

The evolving role of microsatellite instability in colorectal cancer: A review

(2016) Fabio Gelsomino et al.   CANCER TREATMENT REVIEWS

Endometrial Carcinomas with POLE Exonuclease Domain Mutations Have a Favorable Prognosis

(2016) M. K. McConechy et al.   CLINICAL CANCER RESEARCH

Mutation spectrum of POLE and POLD1 mutations in South East Asian women presenting with grade 3 endometrioid endometrial carcinomas

(2016) Adele Wong et al.   GYNECOLOGIC ONCOLOGY

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

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

Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer

(2016) Daniel Chubb et al.   Nature Communications

A synthetic lethal screen identifies ATR-inhibition as a novel therapeutic approach for POLD1-deficient cancers

(2016) Sandra Hocke et al.   Oncotarget

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

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

POLE mutations in families predisposed to cutaneous melanoma

(2015) Lauren G. Aoude et al.   Familial Cancer

A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine

(2015) Maren F. Hansen et al.   Familial Cancer

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

Frequency and phenotypic spectrum of germline mutations inPOLEand seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas

(2015) Isabel Spier et al.   INTERNATIONAL JOURNAL OF CANCER

Inherited predisposition to colorectal cancer: towards a more complete picture

(2015) Emma Short et al.   JOURNAL OF MEDICAL GENETICS

A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

(2015) Robbert D A Weren et al.   NATURE GENETICS

Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors

(2015) Barbara Rivera et al.   NEW ENGLAND JOURNAL OF MEDICINE

PD-1 Blockade in Tumors with Mismatch-Repair Deficiency

(2015) Dung T. Le et al.   NEW ENGLAND JOURNAL OF 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

Identifying hereditary cancer: Genetic counseling and cancer risk assessment

(2014) Kimberly Marie Lewis   CURRENT PROBLEMS IN CANCER

New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis

(2014) Laura Valle et al.   HUMAN MOLECULAR GENETICS

ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis and MYH-associated polyposis)

(2013) Madhuri Hegde et al.   GENETICS IN MEDICINE

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

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

(2012) Claire Palles et al.   NATURE GENETICS

Evidence for accelerated colorectal adenoma–carcinoma progression inMUTYH-associated polyposis?

(2011) M H Nieuwenhuis et al.   GUT

Synthetic lethality: General principles, utility and detection using genetic screens in human cells

(2010) Sebastian M.B. Nijman   FEBS LETTERS