Prevalence of germline MUTYH mutations among Lynch-like syndrome patients.
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I. Chirivella | C. Lázaro | G. Capellá | T. Ramón Y Cajal | J. Balmaña | J. Brunet | I. Blanco | M. Navarro | S. González | O. Campos | M. Pineda | Ángela Velasco | A. Segura | S. Oltra | V. Barberá | I. Tena | E. Carrasco | J. Soto | A. Castillejo | M. Castillejo | G. Vargas | Eva Hernández-Illán | Sílvia Iglesias | Ares Solanes | A. B. Sánchez Heras | J. Gallego | D. González Juan | M. Juan | A. Solanes | E. Hernández-Illán | Olga Campos
[1] I. Nagtegaal,et al. Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors. , 2014, Gastroenterology.
[2] A. Chapelle,et al. Biallelic MUTYH mutations can mimic Lynch syndrome , 2014, European Journal of Human Genetics.
[3] Rodney J Scott,et al. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database , 2013, Nature Genetics.
[4] J. Chang-Claude,et al. Meta-Analysis of Mismatch Repair Polymorphisms within the Cogent Consortium for Colorectal Cancer Susceptibility , 2013, PloS one.
[5] W. Zheng,et al. Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence , 2013, Gut.
[6] H. Vasen,et al. A hundred years of Lynch syndrome research (1913–2013) , 2013, Familial Cancer.
[7] Á. Carracedo,et al. Risk of cancer in cases of suspected lynch syndrome without germline mutation. , 2013, Gastroenterology.
[8] P. Williamson,et al. Colorectal Cancer in a Monoallelic MYH Mutation Carrier , 2013, Journal of Gastrointestinal Surgery.
[9] P. Degan,et al. Understanding the role of the Q338H MUTYH variant in oxidative damage repair , 2013, Nucleic acids research.
[10] E. Kampman,et al. Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review , 2013, Familial Cancer.
[11] Yali Xie,et al. Cancer-associated variants and a common polymorphism of MUTYH exhibit reduced repair of oxidative DNA damage using a GFP-based assay in mammalian cells. , 2012, Carcinogenesis.
[12] J. Potter,et al. Identification of Lynch syndrome among patients with colorectal cancer. , 2012, JAMA.
[13] V. Moreno,et al. Nanofluidic digital PCR for KRAS mutation detection and quantification in gastrointestinal cancer. , 2012, Clinical chemistry.
[14] S. Gruber,et al. MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness study , 2012, European Journal of Human Genetics.
[15] Aung Ko Win,et al. Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer , 2011, International journal of cancer.
[16] H. Morreau,et al. MUTYH-associated polyposis (MAP). , 2011, Critical reviews in oncology/hematology.
[17] M. Nielsen,et al. MUTYH associated polyposis , 2011 .
[18] MSH6 and MUTYH Deficiency Is a Frequent Event in Early-Onset Colorectal Cancer , 2010, Clinical Cancer Research.
[19] W. Bodmer,et al. MYH biallelic mutation can inactivate the two genetic pathways of colorectal cancer by APC or MLH1 transversions , 2010, Familial Cancer.
[20] Antoni Castells,et al. Methylation analysis of MLH1 improves the selection of patients for genetic testing in Lynch syndrome. , 2010, The Journal of molecular diagnostics : JMD.
[21] L. Påhlman,et al. Common variants in human CRC genes as low-risk alleles. , 2010, European journal of cancer.
[22] A. Carrato,et al. Biallelic MYH germline mutations as cause of Muir-Torre syndrome , 2010, Familial Cancer.
[23] Richard D Kolodner,et al. Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases. , 2009, Cancer research.
[24] R. Houlston,et al. Clinical implications of the colorectal cancer risk associated with MUTYH mutation. , 2009, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[25] E. Jordanova,et al. Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas , 2009, BMC Cancer.
[26] J. Potter,et al. Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study. , 2009, Gastroenterology.
[27] Á. Carracedo,et al. Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations? , 2009, BMC Medical Genetics.
[28] A. Pollett,et al. Pathological features of colorectal carcinomas in MYH‐associated polyposis , 2008, Histopathology.
[29] H. Morreau,et al. 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 , 2008, Clinical Cancer Research.
[30] H. Lynch,et al. Hereditary colorectal cancer syndromes: molecular genetics, genetic counseling, diagnosis and management , 2007, Familial Cancer.
[31] J. Gisbert,et al. Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study. , 2007, Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association.
[32] H. Lynch,et al. Toward a consensus in molecular diagnosis of hereditary nonpolyposis colorectal cancer (Lynch syndrome). , 2007, Journal of the National Cancer Institute.
[33] R. Ward,et al. The role of MYH and microsatellite instability in the development of sporadic colorectal cancer , 2006, British Journal of Cancer.
[34] M. Kloor,et al. Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer , 2005, International journal of cancer.
[35] A. Tenesa,et al. Re: Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk. , 2005, Journal of the National Cancer Institute.
[36] L. Lipton,et al. Refining the Amsterdam Criteria and Bethesda Guidelines: testing algorithms for the prediction of mismatch repair mutation status in the familial cancer clinic. , 2004, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[37] S. Thibodeau,et al. MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. , 2004, Gastroenterology.
[38] A. Lu,et al. Human MutY Homolog, a DNA Glycosylase Involved in Base Excision Repair, Physically and Functionally Interacts with Mismatch Repair Proteins Human MutS Homolog 2/Human MutS Homolog 6* , 2002, The Journal of Biological Chemistry.
[39] Kirsten ras mutations in patients with colorectal cancer: the ‘RASCAL II’ study , 2001, British Journal of Cancer.
[40] J. Garber,et al. Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing. , 1999, JAMA.