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

The repertoire of mutational signatures in human cancer

(2020) Ludmil B. Alexandrov et al.   NATURE

Identifying mismatch repair deficient colon cancer: near perfect concordance between immunohistochemistry and microsatellite instability testing in a large, population‐based series

(2020) Maurice B Loughrey et al.   HISTOPATHOLOGY

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

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

Portrait of a cancer: mutational signature analyses for cancer diagnostics

(2019) Arne Van Hoeck et al.   BMC CANCER

Detecting the mutational signature of homologous recombination deficiency in clinical samples

(2019) Doga C. Gulhan et al.   NATURE GENETICS

Update on Hereditary Colorectal Cancer: Improving the Clinical Utility of Multigene Panel Testing

(2018) Marie Lorans et al.   Clinical Colorectal Cancer

Cohort Profile: The Colon Cancer Family Registry Cohort (CCFRC)

(2018) Mark A Jenkins et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

The therapeutic significance of mutational signatures from DNA repair deficiency in cancer

(2018) Jennifer Ma et al.   Nature Communications

Estimating the global cancer incidence and mortality in 2018: GLOBOCAN sources and methods

(2018) J. Ferlay et al.   INTERNATIONAL JOURNAL OF CANCER

Cancer risk and survival inpath_MMRcarriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database

(2017) Pål Møller et al.   GUT

Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts

(2017) Daniel D Buchanan et al.   JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY

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

(2017) Camilla Pilati et al.   JOURNAL OF PATHOLOGY

Exploring background mutational processes to decipher cancer genetic heterogeneity

(2017) Alexander Goncearenco et al.   NUCLEIC ACIDS RESEARCH

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

(2017) Alessandra Viel et al.   EBioMedicine

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

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

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome

(2015) Matthew B. Yurgelun et al.   GASTROENTEROLOGY

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

MSIseq: Software for Assessing Microsatellite Instability from Catalogs of Somatic Mutations

(2015) Mi Ni Huang et al.   Scientific Reports

Colon and Endometrial Cancers With Mismatch Repair Deficiency Can Arise From Somatic, Rather Than Germline, Mutations

(2014) Sigurdis Haraldsdottir et al.   GASTROENTEROLOGY

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

Risk of Metachronous Colon Cancer Following Surgery for Rectal Cancer in Mismatch Repair Gene Mutation Carriers

(2013) Aung Ko Win et al.   ANNALS OF SURGICAL ONCOLOGY

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

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

Emerging landscape of oncogenic signatures across human cancers

(2013) Giovanni Ciriello et al.   NATURE GENETICS

Colorectal and Other Cancer Risks for Carriers and Noncarriers From Families With a DNA Mismatch Repair Gene Mutation: A Prospective Cohort Study

(2012) Aung Ko Win et al.   JOURNAL OF CLINICAL ONCOLOGY

Risks of Primary Extracolonic Cancers Following Colorectal Cancer in Lynch Syndrome

(2012) A. K. Win et al.   JNCI-Journal of the National Cancer Institute

Comprehensive molecular characterization of human colon and rectal cancer

(2012)   NATURE

Quality Assessment and Correlation of Microsatellite Instability and Immunohistochemical Markers among Population- and Clinic-Based Colorectal Tumors

(2011) Mine S. Cicek et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer

(2010) Aung Ko Win et al.   INTERNATIONAL JOURNAL OF CANCER

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

(2008) Sean P. Cleary et al.   GASTROENTEROLOGY