Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria

[1]  P. Devilee,et al.  Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome , 2016, Human mutation.

[2]  M. Nöthen,et al.  Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. , 2016, American journal of human genetics.

[3]  R. Hofstra,et al.  Review: Clinical aspects of hereditary DNA Mismatch repair gene mutations. , 2016, DNA repair.

[4]  Christopher D. Heinen,et al.  Mismatch repair defects and Lynch syndrome: The role of the basic scientist in the battle against cancer. , 2016, DNA repair.

[5]  Z. Cohen,et al.  Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium , 2016, The American Journal of Gastroenterology.

[6]  Aung Ko Win,et al.  PMS2 monoallelic mutation carriers: the known unknown , 2015, Genetics in Medicine.

[7]  P. Møller,et al.  Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database , 2015, Gut.

[8]  T. Kunkel,et al.  Eukaryotic Mismatch Repair in Relation to DNA Replication. , 2015, Annual review of genetics.

[9]  H. Blanché,et al.  Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents. , 2015, Gastroenterology.

[10]  M. Nielsen,et al.  A PMS2-specific colorectal surveillance guideline , 2015, Genetics in Medicine.

[11]  C. Hawkins,et al.  Phenotypic and genotypic characterisation of biallelic mismatch repair deficiency (BMMR-D) syndrome. , 2015, European journal of cancer.

[12]  P. Devilee,et al.  Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses , 2015, Molecular genetics & genomic medicine.

[13]  Michael J. McGuffin,et al.  A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype , 2015, Journal of Medical Genetics.

[14]  P. Møller,et al.  Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk. , 2015, Journal of Clinical Oncology.

[15]  I. Tomlinson,et al.  Clinical management of hereditary colorectal cancer syndromes , 2015, Nature Reviews Gastroenterology &Hepatology.

[16]  Randall W Burt,et al.  ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes , 2015, The American Journal of Gastroenterology.

[17]  Bale,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[18]  Á. Carracedo,et al.  High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families , 2014, Clinical genetics.

[19]  A. Duval,et al.  Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD) , 2014, Journal of Medical Genetics.

[20]  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.

[21]  M. Drost,et al.  Inactivation of DNA Mismatch Repair by Variants of Uncertain Significance in the PMS2 Gene , 2013, Human mutation.

[22]  D. Bonthron,et al.  Simple Detection of Germline Microsatellite Instability for Diagnosis of Constitutional Mismatch Repair Cancer Syndrome , 2013, Human mutation.

[23]  C. Lázaro,et al.  Refining the role of pms2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants , 2013, Journal of Medical Genetics.

[24]  Steven Gallinger,et al.  A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Registry , 2013, Human mutation.

[25]  R. Hofstra,et al.  Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines. , 2011, European journal of cancer.

[26]  K. Shah The diagnostic and clinical significance of café-au-lait macules. , 2010, Pediatric clinics of North America.

[27]  H. Kehrer-Sawatzki,et al.  Functional PMS2 hybrid alleles containing a pseudogene‐specific missense variant trace back to a single ancient intrachromosomal recombination event , 2010, Human mutation.

[28]  A. Green,et al.  Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of lynch syndrome patients , 2010, Human mutation.

[29]  Pinar Bayrak-Toydemir,et al.  Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes , 2010, Human mutation.

[30]  H. Brunner,et al.  Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2 , 2009, European Journal of Human Genetics.

[31]  Monica R McClain,et al.  EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome , 2009, Genetics in Medicine.

[32]  A. Spurdle,et al.  Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results , 2008, Human mutation.

[33]  J. Hainfellner,et al.  RNA‐based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference , 2008, Human mutation.

[34]  P. Pérez-Segura,et al.  Lynch syndrome in a 15-year-old boy , 2008, European Journal of Pediatrics.

[35]  I. Tomlinson,et al.  Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer. , 2007, Gastroenterology.

[36]  Thomas Lengauer,et al.  Mutations in the MutSα interaction interface of MLH1 can abolish DNA mismatch repair , 2006, Nucleic acids research.

[37]  A. de la Chapelle,et al.  Long‐range PCR facilitates the identification of PMS2‐specific mutations , 2006, Human mutation.