Condition: Colorectal Adenomatous Polyposis, Autosomal Recessive


rs1057517765 in MUTYH gene and Colorectal Adenomatous Polyposis, Autosomal Recessive PMID 19836313 2009 Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer.

PMID 18515411 2008 Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3.

PMID 19732775 2009 Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.

PMID 16557584 2006 MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype.

PMID 18534194 2008 Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

PMID 20663686 2011 MUTYH-associated polyposis (MAP).

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 25820570 2015 Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain.

PMID 24470512 2014 Prevalence and characteristics of MUTYH-associated polyposis in patients with multiple adenomatous and serrated polyps.

PMID 14991577 2004 Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer.

PMID 27194394 2016 Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH.

PMID 15673720 2005 Functional characterization of two human MutY homolog (hMYH) missense mutations (R227W and V232F) that lie within the putative hMSH6 binding domain and are associated with hMYH polyposis.

PMID 12393807 2002 Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations.

PMID 17219385 2007 Germline MYH mutations in a clinic-based series of Canadian multiple colorectal adenoma patients.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 18564191 2008 Pathological features of colorectal carcinomas in MYH-associated polyposis.

PMID 17273161 2007 BRAF mutations in multiple sebaceous hyperplasias of patients belonging to MYH-associated polyposis pedigrees.

PMID 18091433 2007 Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis.

PMID 16492921 2006 Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study.

PMID 16890597 2006 Immunohistochemical expression of MYH protein can be used to identify patients with MYH-associated polyposis.

PMID 24444654 2014 Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer.

PMID 28533537 2017 Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort.

PMID 23605219 2014 MUTYH-associated colorectal cancer and adenomatous polyposis.

PMID 25590978 2015 Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing.

PMID 26902849 2016 Inactivating MUTYH germline mutations in pediatric patients with high-grade midline gliomas.

PMID 15635083 2005 The potential for increased clinical sensitivity in genetic testing for polyposis colorectal cancer through the analysis of MYH mutations in North American patients.

PMID 17874208 2008 Sebaceous adenomas in an MYH associated polyposis patient of Indian (Gujarati) origin.

PMID 19032956 2009 Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis.

PMID 17369389 2007 Analysis of inherited MYH/(MutYH) mutations in British Asian patients with colorectal cancer.

PMID 12853198 2003 Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH.

PMID 25645574 2015 ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.

PMID 25452455 2015 Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

PMID 24310308 2014 ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 12606733 2003 Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.

PMID 19793053 2009 APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas.

PMID 18301448 2008 No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients.

PMID 17949294 2007 Similar colorectal cancer risk in patients with monoallelic and biallelic mutations in the MYH gene identified in a population with adenomatous polyposis.

PMID 20618354 2010 MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations.

PMID 20848659 2010 Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer.

PMID 16134147 2005 Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli.

PMID 19953527 2010 MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay.

PMID 23108399 2013 Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability.

PMID 16287072 2006 Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients.

PMID 26694661 2016 Functional Evaluation of Nine Missense-Type Variants of the Human DNA Glycosylase Enzyme MUTYH in the Japanese Population.

PMID 20418187 2010 Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis.

PMID 26446593 2016 Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary.

PMID 24569162 2014 Genetic instability in lymphoblastoid cell lines expressing biallelic and monoallelic variants in the human MUTYH gene.

PMID 17081686 2007 Functional characterization of human MutY homolog (hMYH) missense mutation (R231L) that is linked with hMYH-associated polyposis.

PMID 15366000 2004 Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas.

PMID 16941501 2006 Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis.

PMID 11818965 2002 Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors.

PMID 23322991 2012 Impaired suppressive activities of human MUTYH variant proteins against oxidative mutagenesis.

PMID 19394335 2009 Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.

PMID 11092888 2001 Human homolog of the MutY repair protein (hMYH) physically interacts with proteins involved in long patch DNA base excision repair.

PMID 11433026 2001 hMYH cell cycle-dependent expression, subcellular localization and association with replication foci: evidence suggesting replication-coupled repair of adenine:8-oxoguanine mispairs.

PMID 26377631 2015 Distinct functional consequences of MUTYH variants associated with colorectal cancer: Damaged DNA affinity, glycosylase activity and interaction with PCNA and Hus1.

PMID 11864576 2002 Replication-associated repair of adenine:8-oxoguanine mispairs by MYH.

PMID 27978560 2017 Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.

PMID 25638157 2015 MUTYH mediates the toxicity of combined DNA 6-thioguanine and UVA radiation.

PMID 12917422 2003 Mutator phenotype of MUTYH-null mouse embryonic stem cells.

PMID 9611236 1998 Mitochondrial targeting of human DNA glycosylases for repair of oxidative DNA damage.

PMID 15761860 2005 Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations.

PMID 29406563 2018 Spectrum of APC and MUTYH germ-line mutations in Russian patients with colorectal malignancies.

PMID 19506731 2008 MUTYH Associated Polyposis (MAP).

PMID 22703879 2012 Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

PMID 15890374 2005 Germline mutations of the MYH gene in Japanese patients with multiple colorectal adenomas.

PMID 23561487 2013 Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients.

PMID 17161978 2007 MUTYH-associated polyposis--from defect in base excision repair to clinical genetic testing.

PMID 17931073 2007 The thorough screening of the MUTYH gene in a large French cohort of sporadic colorectal cancers.

PMID 16140997 2005 Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP).

PMID 27829682 2017 Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study.

PMID 22926731 2012 Cancer-associated variants and a common polymorphism of MUTYH exhibit reduced repair of oxidative DNA damage using a GFP-based assay in mammalian cells.

PMID 21171015 2011 Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer.

PMID 21178863 2010 Rectum-sparing surgery may be appropriate for biallelic MutYH-associated polyposis.

PMID 22266422 2012 The first mutations in the MYH gene reported in Moroccan colon cancer patients.

PMID 23361220 2014 MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.

PMID 21063410 2010 A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants.

PMID 17489848 2007 Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis.

PMID 22158503 2012 MUTYH-associated colon disease: adenomatous polyposis is only one of the possible phenotypes. A family report and literature review.

PMID 24082139 2013 Personalized genomic disease risk of volunteers.

PMID 23625202 2013 Colorectal cancer in a monoallelic MYH mutation carrier.

PMID 15931596 2005 Germline susceptibility to colorectal cancer due to base-excision repair gene defects.

PMID 21952991 2012 MutYH mutation carriers have increased breast cancer risk.

PMID 22744763 2012 High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis.

PMID 23805267 2013 Germline Mutations in the Polyposis-Associated Genes BMPR1A, SMAD4, PTEN, MUTYH and GREM1 Are Not Common in Individuals with Serrated Polyposis Syndrome.

PMID 22473953 2012 MUTYH gene expression and alternative splicing in controls and polyposis patients.

PMID 24728327 2014 Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

PMID 15987719 2005 Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair.

PMID 19998059 2010 Biallelic MYH germline mutations as cause of Muir-Torre syndrome.

PMID 3561487 1987 Adaptive variation in environmental and genetic sex determination in a fish.

PMID 20725929 2010 Leiden Open Variation Database of the MUTYH gene.

PMID 16616356 2006 Novel findings in Swedish patients with MYH-associated polyposis: mutation detection and clinical characterization.

PMID 17674103 2007 Colorectal adenomatous polyposis Associated with MYH mutations: genotype and phenotype characteristics.

PMID 18506705 2008 High frequency of copy-neutral LOH in MUTYH-associated polyposis carcinomas.

PMID 16774938 2006 Increased frequency of disease-causing MYH mutations in colon cancer families.

PMID 19732755 2010 Structural constraints and the importance of lipophilicity for the mitochondrial uncoupling activity of naturally occurring caffeic acid esters with potential for the treatment of insulin resistance.

PMID 17031395 2006 The role of MYH and microsatellite instability in the development of sporadic colorectal cancer.

PMID 19527492 2009 Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas.

PMID 12707038 2003 Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers.

PMID 24278394 2013 Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.

PMID 23341527 2013 Identification of a patient with atypical MUTYH-associated polyposis through detection of the KRAS c.34G>T mutation in liver metastasis.

PMID 14999774 2004 Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas.

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 19531215 2009 Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?

PMID 15188161 2004 High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis.

PMID 2084865 1990 [Two cases of allergic granulomatosis and angiitis (AGA); Churg-Strauss syndrome].

PMID 20687945 2010 Simplifying the detection of MUTYH mutations by high resolution melting analysis.

PMID 24733792 2014 Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.

PMID 22865608 2013 MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis.

PMID 22773231 2013 Factors affecting the treatment of multiple colorectal adenomas.

PMID 24556621 2014 Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.

PMID 15236166 2004 MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps.

PMID 25368107 2015 Genomic variations integrated database for MUTYH-associated adenomatous polyposis.

PMID 26689913 2015 Patterns and functional implications of rare germline variants across 12 cancer types.

PMID 19806110 2009 Idiopathic gastric acid hypersecretion in a patient with MUTYH-associated polyposis.

PMID 23729658 2013 UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families.

PMID 22402879 2012 MUTYH associated polyposis coli: one common and one rare mutation.

PMID 19245865 2009 Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study.

PMID 17703316 2007 Germline mutations of the MYH gene in Korean patients with multiple colorectal adenomas.

PMID 25892863 2015 Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases.

PMID 18422726 2008 Genomic and functional analyses of MUTYH in Japanese patients with adenomatous polyposis.

PMID 21195604 2011 First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes.

PMID 19279422 2009 Implication of adenomatous polyposis coli and MUTYH mutations in familial colorectal polyposis.

PMID 16042573 2005 MutYH (MYH) and colorectal cancer.

PMID 25151137 2015 Detection of inherited mutations for hereditary cancer using target enrichment and next generation sequencing.

PMID 28127763 2017 Mutational signature analysis identifies MUTYH deficiency in colorectal cancers and adrenocortical carcinomas.

PMID 24799981 2014 Impaired 8-hydroxyguanine repair activity of MUTYH variant p.Arg109Trp found in a Japanese patient with early-onset colorectal cancer.

PMID 28349240 2017 The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.

PMID 26511139 2015 Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition.

PMID 26976419 2016 Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

PMID 18271935 2008 Association between genetic polymorphisms of the base excision repair gene MUTYH and increased colorectal cancer risk in a Japanese population.

PMID 15180946 2004 A novel splice-site variant of the base excision repair gene MYH is associated with production of an aberrant mRNA transcript encoding a truncated MYH protein not localized in the nucleus.

PMID 26824983 2016 Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer.

PMID 20628285 2010 An in-frame exon-skipping MUTYH mutation is associated with early-onset colorectal cancer.

PMID 18172263 2008 Identification of patients with (atypical) MUTYH-associated polyposis by KRAS2 c.34G > T prescreening followed by MUTYH hotspot analysis in formalin-fixed paraffin-embedded tissue.