Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics
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John L Hopper | Sean V Tavtigian | Michael O Woods | M. Woods | J. Hopper | A. Spurdle | S. Tavtigian | M. Jenkins | Joanne P Young | Melissa A. Brown | D. Buchanan | D. Goldgar | M. Walsh | M. Barker | Amanda B Spurdle | David E Goldgar | Melissa A Brown | Mark A Jenkins | Michael D Walsh | Daniel D Buchanan | Sven Arnold | Melissa Barker | Lesley Jaskowski | Genevieve Birney | S. Arnold | L. Jaskowski | Genevieve Birney | M. Jenkins
[1] F. Couch,et al. Prediction and assessment of splicing alterations: implications for clinical testing , 2008, Human mutation.
[2] Alun Thomas,et al. Classification of rare missense substitutions, using risk surfaces, with genetic‐ and molecular‐epidemiology applications , 2008, Human mutation.
[3] A. Spurdle,et al. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results , 2008, Human mutation.
[4] Stephen B Gruber,et al. Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms–mismatch repair (MAPP‐MMR) , 2008, Human mutation.
[5] Sue Healey,et al. Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators. , 2008, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[6] N. de Wind,et al. Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes , 2007, Human mutation.
[7] Michael O Woods,et al. A new variant database for mismatch repair genes associated with Lynch syndrome , 2007, Human mutation.
[8] C. Ishioka,et al. Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. , 2007, Cancer research.
[9] M. Trivett,et al. Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer , 2007, Familial Cancer.
[10] G. Guanti,et al. In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects , 2006, BMC Genomics.
[11] G. Giles,et al. Cancer risks for mismatch repair gene mutation carriers: a population-based early onset case-family study. , 2006, Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association.
[12] Iain M. Wallace,et al. M-Coffee: combining multiple sequence alignment methods with T-Coffee , 2006, Nucleic acids research.
[13] J. Hopper,et al. Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. , 2006, Cancer research.
[14] Qing Wang,et al. Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing , 2006, Human mutation.
[15] A. Zharkikh,et al. Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral , 2005, Journal of Medical Genetics.
[16] J. Hopper,et al. The Colorectal Cancer Family Registry: An international resource for studying the genetic and molecular epidemiology of colorectal cancer , 2006 .
[17] J. Stockman. Conversion Analysis for Mutation Detection in MLH1 and MSH2 in Patients With Colorectal Cancer , 2006 .
[18] Georgia Chenevix-Trench,et al. Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms , 2005, Breast Cancer Research.
[19] John L Hopper,et al. Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer. , 2005, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[20] Eero Pukkala,et al. Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset. , 2005, Gastroenterology.
[21] H C van Houwelingen,et al. Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment , 2005, Journal of Medical Genetics.
[22] W. Foulkes,et al. Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family , 2005, Journal of Medical Genetics.
[23] A. Drousiotou,et al. Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile. , 2005, Human Genetics.
[24] M. Kohonen-Corish,et al. Gene symbol: MLH1. Disease: Hereditary nonpolyposis colorectal cancer. , 2005, Human Genetics.
[25] A. Krainer,et al. Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1 , 2004, Human mutation.
[26] K. Schulmann,et al. Familial adenomatous polyposis: Aberrant splicing due to missense or silent mutations in the APC gene , 2004, Human mutation.
[27] C. Amos,et al. Missense mutations in cancer suppressor gene TP53 are colocalized with exonic splicing enhancers (ESEs). , 2004, Mutation research.
[28] F. Couch,et al. Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. , 2004, American journal of human genetics.
[29] M. Benito,et al. Immunohistochemistry and microsatellite instability testing for selecting MLH1, MSH2 and MSH6 mutation carriers in hereditary non-polyposis colorectal cancer. , 2004, Oncology reports.
[30] A. Sharp,et al. RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1 , 2004, Human mutation.
[31] Yan Shen,et al. Mutation analysis of five candidate genes in Chinese patients with hypospadias , 2004, European Journal of Human Genetics.
[32] Ye Xu,et al. Gene symbol: hMLH1. Disease: Hereditary nonpolyposis colorectal cancer. , 2004, Human Genetics.
[33] Douglas F Easton,et al. A full-likelihood method for the evaluation of causality of sequence variants from family data. , 2003, American journal of human genetics.
[34] Jurg Ott,et al. Distribution and characterization of regulatory elements in the human genome. , 2002, Genome research.
[35] G. Capellá,et al. Mismatch repair gene analysis in Catalonian families with colorectal cancer , 2002, Journal of medical genetics.
[36] A. Krainer,et al. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1 , 2002, Nature Genetics.
[37] S. Henikoff,et al. Accounting for human polymorphisms predicted to affect protein function. , 2002, Genome research.
[38] C. Cruz,et al. Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing , 2002, Gut.
[39] Daniel J Sargent,et al. Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. , 2002, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[40] A. Davoodi-Semiromi,et al. Aberrant RNA splicing in the hMSH2 gene: molecular identification of three aberrant RNA in Scottish patients with colorectal cancer in the West of Scotland. , 2000, American journal of medical genetics.
[41] J. Saurin,et al. Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer , 1999, Human Genetics.
[42] A. Lindblom,et al. Microsatellite instability and mismatch repair gene inactivation in sporadic pancreatic and colon tumours , 1999, British Journal of Cancer.
[43] T. Kunkel,et al. Mutator phenotypes of yeast strains heterozygous for mutations in the MSH2 gene. , 1999, Proceedings of the National Academy of Sciences of the United States of America.
[44] A. Viel,et al. Lack of PMS2 gene-truncating mutations in patients with hereditary colorectal cancer. , 1998, International journal of oncology.
[45] J. Jass. Diagnosis of hereditary non‐polyposis colorectal cancer , 1998, Histopathology.
[46] T. Smyrk,et al. Molecular Genetics and Clinical-Pathology Features of Hereditary Nonpolyposis Colorectal Carcinoma (Lynch Syndrome) , 1998, Oncology.
[47] T. Smyrk,et al. Molecular genetics and clinical-pathology features of hereditary nonpolyposis colorectal carcinoma (Lynch syndrome): historical journey from pedigree anecdote to molecular genetic confirmation. , 1998, Oncology.
[48] P. Møller,et al. Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations. , 1997, American journal of human genetics.
[49] P. Propping,et al. Hereditary nonpolyposis colorectal cancer (HNPCC): eight novel germline mutations in hMSH2 or hMLH1 genes. , 1997, Human mutation.
[50] Sajeev P. Cherian,et al. In vitro transcription/translation assay for the screening of hMLH1 and hMSH2 mutations in familial colon cancer. , 1995, Gastroenterology.