Associated Papers
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
Prevalence and Distribution of MUTYH Pathogenic Variants, Is There a Relation with an Increased Risk of Breast Cancer?
Peña-López J et al.
Cancers, 2024
Potential pathogenic germline variant reporting from tumor comprehensive genomic profiling complements classic approaches to germline testing.
Tung N et al.
Npj Precision Oncology, 2023
Hereditary cancer syndromes.
Imyanitov EN et al.
World Journal of Clinical Oncology, 2023
Genomic landscape of colorectal carcinogenesis.
Kim JC et al.
Journal of Cancer Research and Clinical Oncology, 2022
From APC to the genetics of hereditary and familial colon cancer syndromes.
Olkinuora AP et al.
Human Molecular Genetics, 2021
Evaluation of literature searching tools for curation of mismatch repair gene variants in hereditary colon cancer.
Kaushik V et al.
Advanced Genetics (hoboken, N.j.), 2021
MUTYH as an Emerging Predictive Biomarker in Ovarian Cancer.
Hutchcraft ML et al.
Diagnostics (basel, Switzerland), 2021
NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas.
Belhadj S et al.
Scientific Reports, 2019
Genetic predisposition to colorectal cancer: syndromes, genes, classification of genetic variants and implications for precision medicine.
Valle L et al.
The Journal of Pathology, 2019
Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history.
Chaffee KG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Repair of 8-oxoG:A mismatches by the MUTYH glycosylase: Mechanism, metals and medicine.
Banda DM et al.
Free Radical Biology & Medicine, 2017
Genetics and Genetic Testing in Hereditary Colorectal Cancer.
Stoffel EM et al.
Gastroenterology, 2015
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
Syngal S et al.
The American Journal of Gastroenterology, 2015
Establishing a clinical and molecular diagnosis for hereditary colorectal cancer syndromes: Present tense, future perfect?
Jansen M et al.
Gastrointestinal Endoscopy, 2014
Biallelic MUTYH mutations can mimic Lynch syndrome.
Morak M et al.
European Journal of Human Genetics : Ejhg, 2014
MutY-glycosylase: an overview on mutagenesis and activities beyond the GO system.
de Oliveira AH et al.
Mutation Research, 2014
Reprint of: gene susceptibility to oxidative damage: from single nucleotide polymorphisms to function.
Simonelli V et al.
Mutation Research, 2012
MUTYH associated polyposis coli: one common and one rare mutation.
De Schepper HU et al.
Digestive Diseases and Sciences, 2012
Gene susceptibility to oxidative damage: from single nucleotide polymorphisms to function.
Simonelli V et al.
Mutation Research, 2012
Lower gastrointestinal tract cancer predisposition syndromes.
Shah NB et al.
Hematology/oncology Clinics of North America, 2010
Detection of genetic alterations in hereditary colorectal cancer screening.
Pineda M et al.
Mutation Research, 2010
Ser 524 is a phosphorylation site in MUTYH and Ser 524 mutations alter 8-oxoguanine (OG): a mismatch recognition.
Kundu S et al.
Dna Repair, 2010
The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease.
Woods MO et al.
Gut, 2010
A novel complex mutation in MSH2 contributes to both Muir-Torre and Lynch Syndrome.
Perera S et al.
Journal of Human Genetics, 2010
Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer.
Kundu S et al.
Dna Repair, 2009
Mutations of the MYH gene do not substantially contribute to the risk of breast cancer.
Beiner ME et al.
Breast Cancer Research and Treatment, 2009
Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study.
Cleary SP et al.
Gastroenterology, 2009
Endometrial cancer and somatic G>T KRAS transversion in patients with constitutional MUTYH biallelic mutations.
Tricarico R et al.
Cancer Letters, 2009
Genetic variants in MUTYH are not associated with endometrial cancer risk.
Ashton KA et al.
Hereditary Cancer in Clinical Practice, 2009
Management of MUTYH-associated neoplasia in Australia.
Worthley DL et al.
Internal Medicine Journal, 2008
Characterization of mutant MUTYH proteins associated with familial colorectal cancer.
Ali M et al.
Gastroenterology, 2008
Detection of APC gene deletions using quantitative multiplex PCR of short fluorescent fragments.
Castellsagué E et al.
Clinical Chemistry, 2008
Sebaceous adenomas in an MYH associated polyposis patient of Indian (Gujarati) origin.
Ajith Kumar VK et al.
Familial Cancer, 2008
Contribution of common monoallelic MUTYH gene variants in German patients with familial colorectal cancer.
Grünhage F et al.
Cancer Biomarkers : Section a of Disease Markers, 2008
Base excision repair and the role of MUTYH.
Kairupan C et al.
Hereditary Cancer in Clinical Practice, 2007
Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis.
Cattaneo F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007
Colorectal cancer risks in relatives of young-onset cases: is risk the same across all first-degree relatives?
Boardman LA et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2007
Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study.
Balaguer F et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2007
The thorough screening of the MUTYH gene in a large French cohort of sporadic colorectal cancers.
Küry S et al.
Genetic Testing, 2007
Similar colorectal cancer risk in patients with monoallelic and biallelic mutations in the MYH gene identified in a population with adenomatous polyposis.
Olschwang S et al.
Genetic Testing, 2007
The value of MUTYH testing in patients with early onset microsatellite stable colorectal cancer referred for hereditary nonpolyposis colon cancer syndrome testing.
Riegert-Johnson DL et al.
Genetic Testing, 2007
Implication of MYH in colorectal polyposis.
Lefevre JH et al.
Annals of Surgery, 2006
Genetic testing for colon cancer.
Kaz AM et al.
Nature Clinical Practice. Gastroenterology & Hepatology, 2006
The role of MYH and microsatellite instability in the development of sporadic colorectal cancer.
Colebatch A et al.
British Journal of Cancer, 2006
Immunohistochemical expression of MYH protein can be used to identify patients with MYH-associated polyposis.
Di Gregorio C et al.
Gastroenterology, 2006
MUTYH Mutations Do Not Cause HNPCC or Late Onset Familial Colorectal Cancer.
Stormorken A et al.
Hereditary Cancer in Clinical Practice, 2006
Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.
Pagenstecher C et al.
Human Genetics, 2006
Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study.
Jenkins MA et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2006
Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations.
Kairupan CF et al.
International Journal of Cancer, 2005