The Molecular Basis of Lynch-like Syndrome
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[1] S. Neuhausen,et al. The spectrum of genetic variants in hereditary pancreatic cancer includes Fanconi anemia genes , 2018, Familial Cancer.
[2] A. Valencia,et al. Elucidating the molecular basis of MSH2‐deficient tumors by combined germline and somatic analysis , 2017, International journal of cancer.
[3] E. Vilar,et al. Identification of MSH2 inversion of exons 1–7 in clinical evaluation of families with suspected Lynch syndrome , 2017, Familial Cancer.
[4] P. Goodfellow,et al. Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer , 2017, JAMA oncology.
[5] Diarmuid P. O'Donoghue,et al. Screening for mismatch repair deficiency in colorectal cancer: data from three academic medical centers , 2017, Cancer medicine.
[6] Hajime Uno,et al. Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer. , 2017, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[7] Y. Okazaki,et al. Prevalence of Lynch syndrome and Lynch‐like syndrome among patients with colorectal cancer in a Japanese hospital‐based population , 2016, Japanese journal of clinical oncology.
[8] M. A. Sloane,et al. Pathogenic germline MCM9 variants are rare in Australian Lynch-like syndrome patients. , 2016, Cancer genetics.
[9] Å. Borg,et al. Expanding the genotype–phenotype spectrum in hereditary colorectal cancer by gene panel testing , 2016, Familial Cancer.
[10] P. Devilee,et al. Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients , 2016, PloS one.
[11] M. A. Sloane,et al. Understanding the Pathogenicity of Noncoding Mismatch Repair Gene Promoter Variants in Lynch Syndrome , 2016, Human mutation.
[12] Julie O. Culver,et al. Increased yield of actionable mutations using multi-gene panels to assess hereditary cancer susceptibility in an ethnically diverse clinical cohort. , 2016, Cancer genetics.
[13] Lincoln D. Stein,et al. Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer. , 2016, Cancer letters.
[14] Wendy K Chung,et al. Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing , 2015, Genetics in Medicine.
[15] P. Devilee,et al. Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers , 2015, European Journal of Human Genetics.
[16] V. Meiner,et al. Mutated MCM9 is associated with predisposition to hereditary mixed polyposis and colorectal cancer in addition to primary ovarian failure. , 2015, Cancer genetics.
[17] R. Pai,et al. Clinicopathological comparison of colorectal and endometrial carcinomas in patients with Lynch-like syndrome versus patients with Lynch syndrome. , 2015, Human pathology.
[18] M. Senthil,et al. Initial Results of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer and Lynch Syndrome , 2015, The American surgeon.
[19] J. R. Hutchins,et al. MCM9 Is Required for Mammalian DNA Mismatch Repair. , 2015, Molecular cell.
[20] S. Syngal,et al. Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. , 2015, Gastroenterology.
[21] A. Valencia,et al. Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair. , 2015, Gastroenterology.
[22] D. Chang,et al. Lynch‐like syndrome: Characterization and comparison with EPCAM deletion carriers , 2015, International journal of cancer.
[23] Hiroyuki Yamamoto,et al. Microsatellite instability: an update , 2015, Archives of Toxicology.
[24] Roland Arnold,et al. Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers , 2015, Nature Genetics.
[25] Randall W Burt,et al. ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes , 2015, The American Journal of Gastroenterology.
[26] P. Goodfellow,et al. Polymerase ɛ (POLE) mutations in endometrial cancer: Clinical outcomes and implications for Lynch syndrome testing , 2015, Cancer.
[27] P. Broderick,et al. Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. , 2015, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[28] W. Frankel,et al. Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations. , 2014, Gastroenterology.
[29] E. Kuipers,et al. Somatic aberrations of mismatch repair genes as a cause of microsatellite‐unstable cancers , 2014, The Journal of pathology.
[30] H. Morreau,et al. Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer , 2014, European Journal of Human Genetics.
[31] Aung Ko Win,et al. Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome) , 2014, The application of clinical genetics.
[32] I. Chirivella,et al. Prevalence of germline MUTYH mutations among Lynch-like syndrome patients. , 2014, European journal of cancer.
[33] Y. Chung,et al. Frameshift mutation of a histone methylation-related gene SETD1B and its regional heterogeneity in gastric and colorectal cancers with high microsatellite instability. , 2014, Human pathology.
[34] C. Lázaro,et al. New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. , 2014, Human molecular genetics.
[35] C. Boland,et al. Inversion of exons 1–7 of the MSH2 gene is a frequent cause of unexplained Lynch syndrome in one local population , 2014, Familial Cancer.
[36] Aung Ko Win,et al. Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer. , 2014, Gastroenterology.
[37] Tina Pesaran,et al. Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients , 2014, Genetics in Medicine.
[38] X. Puente,et al. Exome sequencing identifies MUTYH mutations in a family with colorectal cancer and an atypical phenotype , 2014, Gut.
[39] T. Pal,et al. Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory , 2014, Clinical genetics.
[40] Aung Ko Win,et al. Role of tumour molecular and pathology features to estimate colorectal cancer risk for first-degree relatives , 2014, Gut.
[41] 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.
[42] A. Chapelle,et al. Biallelic MUTYH mutations can mimic Lynch syndrome , 2014, European Journal of Human Genetics.
[43] A. Naccarati,et al. Molecular characteristics of mismatch repair genes in sporadic colorectal tumors in Czech patients , 2014, BMC Medical Genetics.
[44] J. Cubiella,et al. Prevalence and Characteristics of MUTYH-Associated Polyposis in Patients with Multiple Adenomatous and Serrated Polyps , 2014, Clinical Cancer Research.
[45] 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.
[46] Charis Eng,et al. Incidence of colorectal cancer in BRCA1 and BRCA2 mutation carriers: results from a follow-up study , 2013, British Journal of Cancer.
[47] L. Vreede,et al. Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer. , 2013, Gastroenterology.
[48] W. Zheng,et al. Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence , 2013, Gut.
[49] Á. Carracedo,et al. Risk of cancer in cases of suspected lynch syndrome without germline mutation. , 2013, Gastroenterology.
[50] P. Williamson,et al. Colorectal Cancer in a Monoallelic MYH Mutation Carrier , 2013, Journal of Gastrointestinal Surgery.
[51] Wei Yang,et al. The Histone Mark H3K36me3 Regulates Human DNA Mismatch Repair through Its Interaction with MutSα , 2013, Cell.
[52] F. Coulet,et al. Somatic mosaicism and double somatic hits can lead to MSI colorectal tumors , 2013, Familial Cancer.
[53] 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.
[54] Peter Donnelly,et al. Germline mutations in the proof-reading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas , 2012, Nature Genetics.
[55] J. Potter,et al. Identification of Lynch syndrome among patients with colorectal cancer. , 2012, JAMA.
[56] T. Fukagawa,et al. Mcm8 and Mcm9 form a complex that functions in homologous recombination repair induced by DNA interstrand crosslinks. , 2012, Molecular cell.
[57] H. Morreau,et al. MUTYH-associated polyposis (MAP). , 2011, Critical reviews in oncology/hematology.
[58] M. Kloor,et al. Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome , 2011, Journal of Medical Genetics.
[59] E. Oki,et al. Concurrent genetic alterations in DNA polymerase proofreading and mismatch repair in human colorectal cancer , 2011, European Journal of Human Genetics.
[60] J. Hopper,et al. Mutation deep within an intron of MSH2 causes Lynch syndrome , 2011, Familial Cancer.
[61] Y. Liu,et al. Replication error deficient and proficient colorectal cancer gene expression differences caused by 3′UTR polyT sequence deletions , 2010, Proceedings of the National Academy of Sciences.
[62] D. Amadori,et al. MicroRNA-21 induces resistance to 5-fluorouracil by down-regulating human DNA MutS homolog 2 (hMSH2) , 2010, Proceedings of the National Academy of Sciences.
[63] Aung Ko Win,et al. A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants , 2010, British Journal of Cancer.
[64] C. Boland,et al. MSH6 and MUTYH Deficiency Is a Frequent Event in Early-Onset Colorectal Cancer , 2010, Clinical Cancer Research.
[65] D. Durocher,et al. DNA repair has a new FAN1 club. , 2010, Molecular cell.
[66] W. Bodmer,et al. MYH biallelic mutation can inactivate the two genetic pathways of colorectal cancer by APC or MLH1 transversions , 2010, Familial Cancer.
[67] Kay Hofmann,et al. Identification of KIAA1018/FAN1, a DNA Repair Nuclease Recruited to DNA Damage by Monoubiquitinated FANCD2 , 2010, Cell.
[68] M. Kloor,et al. Somatic hypermethylation of MSH2 is a frequent event in Lynch Syndrome colorectal cancers. , 2010, Cancer research.
[69] 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.
[70] F. Marchetti,et al. Heterozygosity for a Bub1 mutation causes female-specific germ cell aneuploidy in mice , 2009, Proceedings of the National Academy of Sciences.
[71] D. Evans,et al. Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. , 2009, Gastroenterology.
[72] 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.
[73] J. Potter,et al. Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study. , 2009, Gastroenterology.
[74] A. Viel,et al. Somatic mosaicism in a patient with Lynch syndrome , 2009, American journal of medical genetics. Part A.
[75] J. Rey,et al. DNA mismatch repair gene methylation in gastric cancer in individuals from northern Brazil. , 2008, Biocell : official journal of the Sociedades Latinoamericanas de Microscopia Electronica ... et. al.
[76] S. Gallinger,et al. Germline MYH mutations in a clinic‐based series of Canadian multiple colorectal adenoma patients , 2007, Journal of surgical oncology.
[77] H. Brunner,et al. Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer , 2007, British Journal of Cancer.
[78] 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.
[79] Ralph Schlapbach,et al. Characterization of the Interactome of the Human MutL Homologues MLH1, PMS1, and PMS2* , 2007, Journal of Biological Chemistry.
[80] R. Ward,et al. The role of MYH and microsatellite instability in the development of sporadic colorectal cancer , 2006, British Journal of Cancer.
[81] W. Frankel,et al. Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. , 2006, Cancer research.
[82] N. Grishin,et al. Identification of novel restriction endonuclease-like fold families among hypothetical proteins , 2005, Nucleic acids research.
[83] W. Frankel,et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). , 2005, The New England journal of medicine.
[84] Josef Jiricny,et al. Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer. , 2005, Gastroenterology.
[85] N. Rahman,et al. Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B , 2004, Nature Genetics.
[86] S. Thibodeau,et al. MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. , 2004, Gastroenterology.
[87] A. Wagner,et al. A 10‐Mb paracentric inversion of chromosome arm 2p inactivates MSH2 and is responsible for hereditary nonpolyposis colorectal cancer in a North‐American kindred , 2002, Genes, chromosomes & cancer.
[88] J. Herman,et al. Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma. , 1998, Proceedings of the National Academy of Sciences of the United States of America.
[89] P. Broderick,et al. Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review. , 2017, Gastroenterology.
[90] M. Greenblatt,et al. Multi-gene panel testing for hereditary cancer susceptibility in a rural Familial Cancer Program , 2016, Familial Cancer.
[91] M. A. Sloane,et al. A cryptic paracentric inversion of MSH2 exons 2-6 causes Lynch syndrome. , 2016, Carcinogenesis.
[92] P. Laird,et al. Frequency of deletions of EPCAM (TACSTD1) in MSH2-associated Lynch syndrome cases. , 2011, The Journal of molecular diagnostics : JMD.
[93] Suet Yi Leung,et al. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1 , 2009, Nature Genetics.