Monoallelic deleterious MUTYH germline variants as a driver for tumorigenesis

Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers

(2021) Peter Georgeson et al.   GUT

A novel patient-derived cell line of adrenocortical carcinoma shows a pathogenic role of germline MUTYH mutation and high tumour mutational burden

(2021) Laura-Sophie Landwehr et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

The repertoire of mutational signatures in human cancer

(2020) Ludmil B. Alexandrov et al.   NATURE

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

(2020) Konrad J. Karczewski et al.   NATURE

Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities

(2020) Caitlin A. Nichols et al.   Nature Communications

Etiologic Index — A Case-Only Measure of BRCA1/2–Associated Cancer Risk

(2020) Raymond Hughley et al.   NEW ENGLAND JOURNAL OF MEDICINE

Favorable response to immunotherapy in a pancreatic neuroendocrine tumor with temozolomide‐induced high tumor mutational burden

(2020) Yanshuo Cao et al.   Cancer Communications

Endoscopic Phenotype of Monoallelic Carriers of MUTYH Gene Mutations in the Family of Polyposis Patients

(2019) Noha El Hachem et al.   DISEASES OF THE COLON & RECTUM

Tumour lineage shapes BRCA-mediated phenotypes

(2019) Philip Jonsson et al.   NATURE

Genomic and Functional Approaches to Understanding Cancer Aneuploidy

(2018) Alison M. Taylor et al.   CANCER CELL

Pathogenic Germline Variants in 10,389 Adult Cancers

(2018) Kuan-lin Huang et al.   CELL

MutationalPatterns: comprehensive genome-wide analysis of mutational processes

(2018) Francis Blokzijl et al.   Genome Medicine

Scalable Open Science Approach for Mutation Calling of Tumor Exomes Using Multiple Genomic Pipelines

(2018) Kyle Ellrott et al.   Cell Systems

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

(2017) Camilla Pilati et al.   JOURNAL OF PATHOLOGY

mSignatureDB: a database for deciphering mutational signatures in human cancers

(2017) Po-Jung Huang et al.   NUCLEIC ACIDS RESEARCH

DNA Damage and Repair Biomarkers of Immunotherapy Response

(2017) Kent W. Mouw et al.   Cancer Discovery

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

(2017) Alessandra Viel et al.   EBioMedicine

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

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

Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer

(2016) Aung Ko Win et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

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

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

Functional Complementation Assay for 47MUTYHVariants in aMutY-DisruptedEscherichia ColiStrain

(2015) Keigo Komine et al.   HUMAN MUTATION

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

(2015) Mamunur Rashid et al.   JOURNAL OF PATHOLOGY

Mutational signatures: the patterns of somatic mutations hidden in cancer genomes

(2014) Ludmil B Alexandrov et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Risk of Colorectal Cancer for Carriers of Mutations in MUTYH, With and Without a Family History of Cancer

(2014) Aung Ko Win et al.   GASTROENTEROLOGY

Cellular Levels of 8-Oxoguanine in either DNA or the Nucleotide Pool Play Pivotal Roles in Carcinogenesis and Survival of Cancer Cells

(2014) Yusaku Nakabeppu   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

−7/7q− syndrome in myeloid-lineage hematopoietic malignancies: attempts to understand this complex disease entity

(2014) H Honda et al.   ONCOGENE

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

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Base Excision Repair

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

Deciphering Signatures of Mutational Processes Operative in Human Cancer

(2013) Ludmil B. Alexandrov et al.   Cell Reports

Absolute quantification of somatic DNA alterations in human cancer

(2012) Scott L Carter et al.   NATURE BIOTECHNOLOGY

MUTYH-associated polyposis (MAP)

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

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

Increased Colorectal Cancer Incidence in Obligate Carriers of Heterozygous Mutations in MUTYH

(2009) Natalie Jones et al.   GASTROENTEROLOGY

Mutations of the MYH gene do not substantially contribute to the risk of breast cancer

(2008) Mario E. Beiner et al.   BREAST CANCER RESEARCH AND TREATMENT

The role of MYH gene in genetic predisposition to colorectal cancer: Another piece of the puzzle

(2008) Alessandra Avezzù et al.   CANCER LETTERS

Characterization of Mutant MUTYH Proteins Associated With Familial Colorectal Cancer

(2008) Mohsin Ali et al.   GASTROENTEROLOGY

Analysis of MUTYH Genotypes and Colorectal Phenotypes in Patients With MUTYH-Associated Polyposis

(2008) Maartje Nielsen et al.   GASTROENTEROLOGY

Germline MutY Human Homologue Mutations and Colorectal Cancer: A Multisite Case-Control Study

(2008) Sean P. Cleary et al.   GASTROENTEROLOGY

High frequency of copy-neutral LOH inMUTYH-associated polyposis carcinomas

(2008) A Middeldorp et al.   JOURNAL OF PATHOLOGY