Gene: PMS2

Alternate names for this Gene: HNPCC4|MLH4|MMRCS4|PMS2CL|PMSL2

Gene Summary: The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination. This protein forms heterodimers with the gene product of the mutL homolog 1 (MLH1) gene to form the MutL-alpha heterodimer. The MutL-alpha heterodimer possesses an endonucleolytic activity that is activated following recognition of mismatches and insertion/deletion loops by the MutS-alpha and MutS-beta heterodimers, and is necessary for removal of the mismatched DNA. There is a DQHA(X)2E(X)4E motif found at the C-terminus of the protein encoded by this gene that forms part of the active site of the nuclease. Mutations in this gene have been associated with hereditary nonpolyposis colorectal cancer (HNPCC; also known as Lynch syndrome) and Turcot syndrome.

Gene is located in Chromosome: 7

Location in Chromosome : 7p22.1

Description of this Gene: PMS1 homolog 2, mismatch repair system component

Type of Gene: protein-coding

rs1057515572 in PMS2 gene and COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 PMID 17557300 2007 Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.

PMID 22577899 2013 Recurrent and founder mutations in the PMS2 gene.

PMID 21204794 2011 Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations.

PMID 24027009 2013 Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.

PMID 23709753 2013 Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.

PMID 16619239 2006 Long-range PCR facilitates the identification of PMS2-specific mutations.

PMID 20205264 2010 Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.

PMID 18602922 2008 The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.

PMID 22949387 2013 Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

PMID 21239990 2011 Integrated analysis of unclassified variants in mismatch repair genes.

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 21376568 2011 Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.

PMID 16144131 2005 Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.

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 19479271 2009 Four novel germline mutations in the MLH1 and PMS2 mismatch repair genes in patients with hereditary nonpolyposis colorectal cancer.

PMID 16472587 2006 Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).

PMID 10480359 1999 Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer.

PMID 11793469 2002 Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms.

PMID 18178629 2008 A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.

PMID 15887124 2005 Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer.

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

PMID 25477341 2015 Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis.

PMID 25637381 2015 Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

PMID 26247049 2015 Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.

PMID 26110232 2016 The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.

PMID 23612316 2013 Implementation of tumor testing for lynch syndrome in endometrial cancers at a large academic medical center.

PMID 16616355 2006 Cancer risks for mismatch repair gene mutation carriers: a population-based early onset case-family study.

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

PMID 26845104 2016 Improving performance of multigene panels for genomic analysis of cancer predisposition.

PMID 24763289 2014 Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

PMID 27696107 2017 Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.

PMID 24362816 2014 Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

PMID 27435373 2016 Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.

PMID 22658618 2012 ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing.

PMID 22081473 2012 Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome.

PMID 9488480 1998 A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype.

PMID 26895986 2016 Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.

PMID 15077197 2004 Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.

PMID 18824584 2008 Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination.

PMID 23012243 2013 The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene.

PMID 7629132 1995 A hPMS2 mutant cell line is defective in strand-specific mismatch repair.

PMID 25512458 2015 Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.

PMID 16507833 2006 PMS2 mutations in childhood cancer.

PMID 27589204 2016 Germline PMS2 mutation screened by mismatch repair protein immunohistochemistry of colorectal cancer in Japan.

PMID 28640387 2017 DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer.

PMID 25856668 2016 PMS2 monoallelic mutation carriers: the known unknown.

rs63750250 in PMS2 gene and Colorectal cancer, hereditary nonpolyposis, type 1 PMID 20205264 2010 Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.

PMID 24362816 2014 Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

PMID 15887099 2005 Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer.

PMID 18602922 2008 The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.

rs121434629 in PMS2 gene and Hereditary Nonpolyposis Colorectal Cancer PMID 17557300 2007 Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.

PMID 16144131 2005 Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.

PMID 16619239 2006 Long-range PCR facilitates the identification of PMS2-specific mutations.

PMID 15256438 2004 Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation.

PMID 27433846 2016 Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

PMID 28596308 2017 Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade.

PMID 20531397 2010 The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations.

PMID 27863258 2017 Detection of Mismatch Repair Deficiency and Microsatellite Instability in Colorectal Adenocarcinoma by Targeted Next-Generation Sequencing.

PMID 19156169 2009 Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome.

PMID 28528518 2018 A multi-gene panel study in hereditary breast and ovarian cancer in Colombia.

PMID 18273873 2008 Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2.

PMID 24027009 2013 Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.

PMID 21376568 2011 Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.

PMID 7628019 1995 Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis.

PMID 27435373 2016 Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.

PMID 21239990 2011 Integrated analysis of unclassified variants in mismatch repair genes.

PMID 23709753 2013 Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.

PMID 22577899 2013 Recurrent and founder mutations in the PMS2 gene.

PMID 18602922 2008 The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.

PMID 22949387 2013 Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

PMID 24055113 2013 Actionable, pathogenic incidental findings in 1,000 participants' exomes.

PMID 21182953 2011 Hepatic adenomas caused by somatic HNF1A mutations in children with biallelic mismatch repair gene mutations.

PMID 24897087 2014 Clinical problem-solving. Spot diagnosis.

PMID 25194673 2014 Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.

PMID 26116798 2015 Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.

PMID 25856668 2016 PMS2 monoallelic mutation carriers: the known unknown.

PMID 24440087 2014 Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.

PMID 26895986 2016 Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 16817031 2006 The added value of PMS2 immunostaining in the diagnosis of hereditary nonpolyposis colorectal cancer.

PMID 20186688 2010 Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.

PMID 23733757 2013 Population-based molecular screening for Lynch syndrome: implications for personalized medicine.

PMID 18178629 2008 A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.

PMID 24323032 2014 Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.

PMID 21204794 2011 Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations.

PMID 20682701 2010 The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease.

PMID 17312306 2007 Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.

PMID 26318770 2015 Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.

PMID 26110232 2016 The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.

PMID 26247049 2015 Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.

PMID 16472587 2006 Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).

PMID 23612316 2013 Implementation of tumor testing for lynch syndrome in endometrial cancers at a large academic medical center.

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

PMID 20205264 2010 Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.

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

PMID 25871621 2015 Germline MLH1 Mutations Are Frequently Identified in Lynch Syndrome Patients With Colorectal and Endometrial Carcinoma Demonstrating Isolated Loss of PMS2 Immunohistochemical Expression.

PMID 19132747 2009 PMS2 involvement in patients suspected of Lynch syndrome.

PMID 27001570 2016 Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency.

PMID 23012243 2013 The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene.

PMID 27476653 2016 Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.

PMID 15887124 2005 Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer.

PMID 17072973 2006 Mannose-binding lectin and maladies of the bowel and liver.

PMID 15887099 2005 Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer.

PMID 25512458 2015 Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.

PMID 23652311 2013 Evaluation of a new panel of six mononucleotide repeat markers for the detection of DNA mismatch repair-deficient tumours.

PMID 22120844 2012 A state-wide population-based program for detection of lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours.

PMID 15872200 2005 Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).

PMID 7632227 1995 Mismatch repair deficiency in phenotypically normal human cells.

PMID 26270727 2015 Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.

PMID 26720728 2016 Inherited Mutations in Women With Ovarian Carcinoma.

PMID 15077197 2004 Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.

PMID 9488480 1998 A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype.

PMID 16426742 2006 Overexpression of the DNA mismatch repair factor, PMS2, confers hypermutability and DNA damage tolerance.

PMID 24362816 2014 Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

PMID 7661930 1995 The molecular basis of Turcot's syndrome.

PMID 15845562 2005 Family history and molecular features of children, adolescents, and young adults with colorectal carcinoma.

PMID 12714694 2003 Variation in the extent of microsatellite instability in human cell lines with defects in different mismatch repair genes.

PMID 16283678 2005 Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6.

PMID 19283792 2009 Pediatric duodenal cancer and biallelic mismatch repair gene mutations.

PMID 22658618 2012 ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing.

PMID 25637381 2015 Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

PMID 28449805 2017 Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.

PMID 28640387 2017 DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer.

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

PMID 28514183 2017 Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.

rs1060503110 in PMS2 gene and Hereditary Nonpolyposis Colorectal Neoplasms PMID 25430799 2015 Genetic features of Lynch syndrome in the Israeli population.

PMID 22585707 2012 Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL.

PMID 23012243 2013 The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 21376568 2011 Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.

PMID 24362816 2014 Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

PMID 26866578 2016 Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses.

PMID 24027009 2013 Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.

PMID 23709753 2013 Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.

PMID 25006859 2014 Screening for germline mismatch repair mutations following diagnosis of sebaceous neoplasm.

PMID 22577899 2013 Recurrent and founder mutations in the PMS2 gene.

PMID 21204794 2011 Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations.

PMID 16619239 2006 Long-range PCR facilitates the identification of PMS2-specific mutations.

PMID 16144131 2005 Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.

PMID 18273873 2008 Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2.

PMID 25856668 2016 PMS2 monoallelic mutation carriers: the known unknown.

PMID 10037723 1999 The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer.

PMID 20533529 2010 Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.

PMID 16338176 2006 Truncation of the C-terminus of human MLH1 blocks intracellular stabilization of PMS2 and disrupts DNA mismatch repair.

PMID 26248088 2015 Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome.

PMID 28874130 2017 A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

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

PMID 20186688 2010 Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.

PMID 22918162 2013 Secondary mutation in a coding mononucleotide tract in MSH6 causes loss of immunoexpression of MSH6 in colorectal carcinomas with MLH1/PMS2 deficiency.

PMID 27589204 2016 Germline PMS2 mutation screened by mismatch repair protein immunohistochemistry of colorectal cancer in Japan.

PMID 20205264 2010 Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.

PMID 18602922 2008 The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.

PMID 26720728 2016 Inherited Mutations in Women With Ovarian Carcinoma.

PMID 26110232 2016 The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.

PMID 26247049 2015 Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.

PMID 27435373 2016 Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.

PMID 26318770 2015 Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.

PMID 27696107 2017 Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.

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

PMID 25691505 2015 A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.

PMID 26437257 2015 Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.

PMID 10763829 2000 Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene.

PMID 17567544 2007 Mutations affecting a putative MutLalpha endonuclease motif impact multiple mismatch repair functions.

PMID 17029773 2007 The E705K mutation in hPMS2 exerts recessive, not dominant, effects on mismatch repair.

PMID 16873062 2006 Endonucleolytic function of MutLalpha in human mismatch repair.

PMID 20624957 2010 PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance.

PMID 20176959 2010 Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions.

PMID 25871621 2015 Germline MLH1 Mutations Are Frequently Identified in Lynch Syndrome Patients With Colorectal and Endometrial Carcinoma Demonstrating Isolated Loss of PMS2 Immunohistochemical Expression.

PMID 22608206 2012 Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a constitutional PMS2 deficiency.

PMID 28365877 2017 Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.

PMID 28503822 2018 Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?

PMID 19132747 2009 PMS2 involvement in patients suspected of Lynch syndrome.

PMID 25512458 2015 Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.

PMID 24689082 2014 A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.

PMID 19039682 2009 A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts.

PMID 19723918 2009 Germ-line mutations in mismatch repair genes associated with prostate cancer.

PMID 24790682 2014 The Norwegian PMS2 founder mutation c.989-1G > T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry.

PMID 28007021 2016 Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations.

PMID 21261604 2011 Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations.

PMID 24763289 2014 Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

PMID 27001570 2016 Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency.

PMID 27476653 2016 Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.

PMID 27064304 2016 Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.

PMID 20487569 2010 MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.

PMID 24728189 2014 The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.

PMID 15887099 2005 Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer.

PMID 19283792 2009 Pediatric duodenal cancer and biallelic mismatch repair gene mutations.

PMID 16472587 2006 Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).

PMID 17993636 2008 Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation.

PMID 22692065 2013 Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.

PMID 15872200 2005 Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).

PMID 9488480 1998 A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype.

PMID 12714694 2003 Variation in the extent of microsatellite instability in human cell lines with defects in different mismatch repair genes.

PMID 26895986 2016 Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.

PMID 7632227 1995 Mismatch repair deficiency in phenotypically normal human cells.

PMID 15077197 2004 Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.

PMID 25850602 2015 An Unusual Case of Constitutional Mismatch Repair Deficiency Syndrome With Anaplastic Ganglioglioma, Colonic Adenocarcinoma, Osteosarcoma, Acute Myeloid Leukemia, and Signs of Neurofibromatosis Type 1: Case Report.

PMID 16507833 2006 PMS2 mutations in childhood cancer.

PMID 2440087 1986 Review of the basic principles of drug action.

PMID 21618646 2011 Avoidance of pseudogene interference in the detection of 3' deletions in PMS2.

PMID 28805995 2017 Germline PMS2 and somatic POLE exonuclease mutations cause hypermutability of the leading DNA strand in biallelic mismatch repair deficiency syndrome brain tumours.

PMID 28449805 2017 Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.

PMID 28640387 2017 DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer.

PMID 27273229 2017 Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts.

PMID 28514183 2017 Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.

PMID 26232782 2015 A case of early onset rectal cancer of Lynch syndrome with a novel deleterious PMS2 mutation.

PMID 26691941 2016 [Retrospective NGS Study in High-risk Hereditary Cancer Patients at Masaryk Memorial Cancer Institute].

rs1057515572 in PMS2 gene and Hyperinsulinism PMID 17557300 2007 Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.

rs1057515572 in PMS2 gene and Large head (disorder) PMID 17557300 2007 Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.

rs1057515572 in PMS2 gene and Melanocortin 4 Receptor Deficiency PMID 17557300 2007 Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.

rs1060503110 in PMS2 gene and Neoplastic Syndromes, Hereditary PMID 25430799 2015 Genetic features of Lynch syndrome in the Israeli population.

PMID 25871621 2015 Germline MLH1 Mutations Are Frequently Identified in Lynch Syndrome Patients With Colorectal and Endometrial Carcinoma Demonstrating Isolated Loss of PMS2 Immunohistochemical Expression.

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

PMID 25194673 2014 Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 28528518 2018 A multi-gene panel study in hereditary breast and ovarian cancer in Colombia.

PMID 25637381 2015 Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

PMID 18602922 2008 The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.

PMID 28125078 2017 Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.

PMID 27433846 2016 Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

PMID 21376568 2011 Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.

PMID 28286799 2017 A 30-Year-Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency.

PMID 24055113 2013 Actionable, pathogenic incidental findings in 1,000 participants' exomes.

PMID 18273873 2008 Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2.

PMID 24027009 2013 Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.

PMID 25186627 2015 Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

PMID 22949387 2013 Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

PMID 21239990 2011 Integrated analysis of unclassified variants in mismatch repair genes.

PMID 23709753 2013 Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.

PMID 21204794 2011 Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations.

PMID 26318770 2015 Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.

PMID 22577899 2013 Recurrent and founder mutations in the PMS2 gene.

PMID 20186688 2010 Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.

PMID 16144131 2005 Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.

PMID 17557300 2007 Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.

PMID 15256438 2004 Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation.

PMID 16619239 2006 Long-range PCR facilitates the identification of PMS2-specific mutations.

PMID 20587412 2010 Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.

PMID 20531397 2010 The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations.

PMID 19283792 2009 Pediatric duodenal cancer and biallelic mismatch repair gene mutations.

PMID 25856668 2016 PMS2 monoallelic mutation carriers: the known unknown.

PMID 23435383 2013 Structure of the MutLα C-terminal domain reveals how Mlh1 contributes to Pms1 endonuclease site.

PMID 26391938 2015 Colorectal Cancer due to Constitutional Mismatch Repair Deficiency Mimicking Neurofibromatosis I.

PMID 23629955 2013 Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency.

PMID 25691505 2015 A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.

PMID 11574484 2001 Structure and function of the N-terminal 40 kDa fragment of human PMS2: a monomeric GHL ATPase.

PMID 27435373 2016 Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.

PMID 25512458 2015 Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.

PMID 27742654 2017 Practical guidance for mismatch repair-deficiency testing in endometrial cancer.

PMID 26247049 2015 Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.

PMID 26110232 2016 The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.

PMID 25477341 2015 Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis.

PMID 20205264 2010 Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.

PMID 27589204 2016 Germline PMS2 mutation screened by mismatch repair protein immunohistochemistry of colorectal cancer in Japan.

PMID 25648859 2015 Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome.

PMID 20487569 2010 MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.

PMID 28466842 2017 Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.

PMID 24323032 2014 Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.

PMID 18178629 2008 A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.

PMID 24362816 2014 Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

PMID 16472587 2006 Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).

PMID 23612316 2013 Implementation of tumor testing for lynch syndrome in endometrial cancers at a large academic medical center.

PMID 26437257 2015 Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.

PMID 10763829 2000 Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene.

PMID 9419979 1997 Drastic genetic instability of tumors and normal tissues in Turcot syndrome.

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

PMID 20624957 2010 PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance.

PMID 28454591 2017 Lost in translation: returning germline genetic results in genome-scale cancer research.

PMID 28514183 2017 Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.

PMID 16116158 2005 Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer.

PMID 16616355 2006 Cancer risks for mismatch repair gene mutation carriers: a population-based early onset case-family study.

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

PMID 22608206 2012 Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a constitutional PMS2 deficiency.

PMID 18709565 2008 Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?

PMID 26116798 2015 Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.

PMID 28365877 2017 Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.

PMID 22290698 2012 Classification of mismatch repair gene missense variants with PON-MMR.

PMID 28503822 2018 Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?

PMID 23837913 2014 High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families.

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

PMID 19132747 2009 PMS2 involvement in patients suspected of Lynch syndrome.

PMID 28874130 2017 A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

PMID 27694994 2016 Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

PMID 22848017 2013 Optic pathway glioma as part of a constitutional mismatch-repair deficiency syndrome in a patient meeting the criteria for neurofibromatosis type 1.

PMID 19039682 2009 A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts.

PMID 24790682 2014 The Norwegian PMS2 founder mutation c.989-1G > T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry.

PMID 24689082 2014 A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.

PMID 23729388 2013 Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies.

PMID 27096365 2016 Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.

PMID 25117502 2014 Cancer genetic testing panels for inherited cancer susceptibility: the clinical experience of a large adult genetics practice.

PMID 24763289 2014 Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

PMID 28152038 2017 Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

PMID 21261604 2011 Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations.

PMID 27001570 2016 Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency.

PMID 15887124 2005 Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer.

PMID 15887099 2005 Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer.

PMID 27037742 2016 Metachronous T-Lymphoblastic Lymphoma and Burkitt Lymphoma in a Child With Constitutional Mismatch Repair Deficiency Syndrome.

PMID 27017610 2016 Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency.

PMID 24728189 2014 The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.

PMID 17993636 2008 Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation.

PMID 15872200 2005 Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).

PMID 9488480 1998 A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype.

PMID 26895986 2016 Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.

PMID 7661930 1995 The molecular basis of Turcot's syndrome.

PMID 7632227 1995 Mismatch repair deficiency in phenotypically normal human cells.

PMID 19495563 2009 Anaplastic oligoastrocytoma in Turcot syndrome.

PMID 15845562 2005 Family history and molecular features of children, adolescents, and young adults with colorectal carcinoma.

PMID 16283678 2005 Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6.

PMID 10223463 1999 The hPMS2 exon 5 mutation and malignant glioma. Case report.

PMID 16284300 2005 PMS2 mutations in childhood cancer.

PMID 26720728 2016 Inherited Mutations in Women With Ovarian Carcinoma.

PMID 15077197 2004 Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.

PMID 21356188 2011 Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel.

PMID 27273229 2017 Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts.

PMID 22295133 2011 Lynch Syndrome Associated With PMS2 Mutation: Understanding Current Concepts.

PMID 17016615 2006 The mismatch repair gene hPMS2 is mutated in primary breast cancer.

PMID 28765196 2017 In Silico Systems Biology Analysis of Variants of Uncertain Significance in Lynch Syndrome Supports the Prioritization of Functional Molecular Validation.

PMID 10199405 1999 Transformation of MutL by ATP binding and hydrolysis: a switch in DNA mismatch repair.

PMID 26249686 2015 Structure of the human MLH1 N-terminus: implications for predisposition to Lynch syndrome.

rs1057515572 in PMS2 gene and Overgrowth PMID 17557300 2007 Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.

rs1057515572 in PMS2 gene and Poor school performance PMID 17557300 2007 Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.

rs1057515572 in PMS2 gene and Tall stature PMID 17557300 2007 Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.

rs1554298082 in PMS2 gene and Turcot syndrome (disorder) PMID 23629955 2013 Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency.

PMID 15077197 2004 Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.

PMID 7661930 1995 The molecular basis of Turcot's syndrome.

PMID 9419979 1997 Drastic genetic instability of tumors and normal tissues in Turcot syndrome.

PMID 27435373 2016 Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.

PMID 17557300 2007 Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.

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 22167527 2012 Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline.

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 15604628 2004 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

PMID 26691941 2016 [Retrospective NGS Study in High-risk Hereditary Cancer Patients at Masaryk Memorial Cancer Institute].

PMID 28218421 2017 Frameshift mutational target gene analysis identifies similarities and differences in constitutional mismatch repair-deficiency and Lynch syndrome.

PMID 26116798 2015 Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.