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

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

(2017) Camilla Pilati et al.   JOURNAL OF PATHOLOGY

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

(2017) Jarno Drost et al.   SCIENCE

A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer

(2017) Alessandra Viel et al.   EBioMedicine

Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis

(2016) Ronja Adam et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Risk of extracolonic cancers for people with biallelic and monoallelic mutations inMUTYH

(2016) Aung Ko Win et al.   INTERNATIONAL JOURNAL OF CANCER

Landscape of somatic mutations in 560 breast cancer whole-genome sequences

(2016) Serena Nik-Zainal et al.   NATURE

COSMIC: somatic cancer genetics at high-resolution

(2016) Simon A. Forbes et al.   NUCLEIC ACIDS RESEARCH

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

(2016) Daniel Chubb et al.   Nature Communications

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

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

Genetic Diagnosis of High-Penetrance Susceptibility for Colorectal Cancer (CRC) Is Achievable for a High Proportion of Familial CRC by Exome Sequencing

(2015) Daniel Chubb et al.   JOURNAL OF CLINICAL ONCOLOGY

Adenoma development in familial adenomatous polyposis andMUTYH-associated polyposis: somatic landscape and driver genes

(2015) Mamunur Rashid et al.   JOURNAL OF PATHOLOGY

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

Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers

(2015) Adam Shlien et al.   NATURE GENETICS

Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors

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

NTHL1 defines novel cancer syndrome

(2015) Roland P. Kuiper et al.   Oncotarget

Colorectal cancer statistics, 2014

(2014) Rebecca Siegel et al.   CA-A CANCER JOURNAL FOR CLINICIANS

Error-free versus mutagenic processing of genomic uracil—Relevance to cancer

(2014) Hans E. Krokan et al.   DNA REPAIR

Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer

(2014) Fadwa A Elsayed et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2014) Laura Valle et al.   HUMAN MOLECULAR GENETICS

8-oxoguanine causes spontaneous de novo germline mutations in mice

(2014) Mizuki Ohno et al.   Scientific Reports

The growing complexity of the intestinal polyposis syndromes

(2013) Emanuela Lucci-Cordisco et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cancer incidence and mortality patterns in Europe: Estimates for 40 countries in 2012

(2013) J. Ferlay et al.   EUROPEAN JOURNAL OF CANCER

MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events

(2013) Stefan Aretz et al.   EUROPEAN JOURNAL OF HUMAN 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

Role of the Oxidative DNA Damage Repair Gene OGG1 in Colorectal Tumorigenesis

(2013) Christopher G. Smith et al.   JNCI-Journal of the National Cancer Institute

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

Base excision repair and cancer

(2012) Susan S. Wallace et al.   CANCER LETTERS

Clinical utility gene card for: MUTYH-associated polyposis (MAP), Autosomal recessive colorectal adenomatous polyposis, Multiple colorectal adenomas, Multiple adenomatous polyps (MAP) - update 2012

(2012) Stefan Aretz et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Guidelines for Colonoscopy Surveillance After Screening and Polypectomy: A Consensus Update by the US Multi-Society Task Force on Colorectal Cancer

(2012) David A. Lieberman et al.   GASTROENTEROLOGY

Prevalence and Phenotypes of APC and MUTYH Mutations in Patients With Multiple Colorectal Adenomas

(2012) Shilpa Grover et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

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

(2012) Claire Palles et al.   NATURE GENETICS

Base Excision Repair and Lesion-Dependent Subpathways for Repair of Oxidative DNA Damage

(2010) David Svilar et al.   ANTIOXIDANTS & REDOX SIGNALING

MUTYH-associated polyposis (MAP)

(2010) Maartje Nielsen et al.   CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY

Survival of MUTYH-Associated Polyposis Patients With Colorectal Cancer and Matched Control Colorectal Cancer Patients

(2010) M. Nielsen et al.   JNCI-Journal of the National Cancer Institute

DNA Repair in Mammalian Cells

(2009) A. B. Robertson et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Targeted deletion of the genes encoding NTH1 and NEIL1 DNA N-glycosylases reveals the existence of novel carcinogenic oxidative damage to DNA

(2009) Michael K. Chan et al.   DNA REPAIR

Clinical Implications of the Colorectal Cancer Risk Associated With MUTYH Mutation

(2009) Steven J. Lubbe et al.   JOURNAL OF CLINICAL ONCOLOGY

Familial adenomatous polyposis

(2009) Elizabeth Half et al.   Orphanet Journal of Rare Diseases

Colorectal Cancer Epidemiology: Incidence, Mortality, Survival, and Risk Factors

(2009) Fatima Haggar et al.   Clinics in Colon and Rectal Surgery

A Pooled Analysis of Advanced Colorectal Neoplasia Diagnoses After Colonoscopic Polypectomy

(2008) María Elena Martínez et al.   GASTROENTEROLOGY

Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3

(2008) A R Dallosso et al.   GUT