Gene: MSH6

Alternate names for this Gene: GTBP|GTMBP|HNPCC5|HSAP|MMRCS3|p160

Gene Summary: This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described.

Gene is located in Chromosome: 2

Location in Chromosome : 2p16.3

Description of this Gene: mutS homolog 6

Type of Gene: protein-coding

Gene: FBXO11

Alternate names for this Gene: FBX11|IDDFBA|PRMT9|UBR6|UG063H01|VIT1

Gene Summary: This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It can function as an arginine methyltransferase that symmetrically dimethylates arginine residues, and it acts as an adaptor protein to mediate the neddylation of p53, which leads to the suppression of p53 function. This gene is known to be down-regulated in melanocytes from patients with vitiligo, a skin disorder that results in depigmentation. Polymorphisms in this gene are associated with chronic otitis media with effusion and recurrent otitis media (COME/ROM), a hearing loss disorder, and the knockout of the homologous mouse gene results in the deaf mouse mutant Jeff (Jf), a single gene model of otitis media. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene.

Gene is located in Chromosome: 2

Location in Chromosome : 2p16.3

Description of this Gene: F-box protein 11

Type of Gene: protein-coding

rs1800932 in MSH6;FBXO11 gene and Age at menopause PMID 26414677 2015 Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.

rs2020908 in MSH6;FBXO11 gene and COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 PMID 9354786 1997 Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer.

PMID 21120944 2011 Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.

PMID 12658575 2003 Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.

PMID 14974087 2004 Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue.

PMID 22102614 2012 A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.

PMID 15365995 2004 Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families.

PMID 11586295 2001 A role for MLH3 in hereditary nonpolyposis colorectal cancer.

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

PMID 10521294 1999 Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations.

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 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 16418736 2006 Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor.

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

PMID 21056691 2011 Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer.

PMID 10537275 1999 Germ-line msh6 mutations in colorectal cancer families.

PMID 20028993 2010 Risks of Lynch syndrome cancers for MSH6 mutation carriers.

PMID 26440929 2015 Identification of germline genetic mutations in patients with pancreatic cancer.

PMID 25307252 2015 The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis-like phenotype and early onset cancer.

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

PMID 19851887 2010 An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC.

PMID 14520694 2003 MSH6 germline mutations are rare in colorectal cancer families.

PMID 21155762 2011 Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome.

PMID 22495361 2012 MSH6 mutations are frequent in hereditary nonpolyposis colorectal cancer families with normal pMSH6 expression as detected by immunohistochemistry.

PMID 21836479 2011 Challenges in the identification of MSH6-associated colorectal cancer: rectal location, less typical histology, and a subset with retained mismatch repair function.

PMID 18809606 2008 Feasibility of screening for Lynch syndrome among patients with colorectal cancer.

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

PMID 26552419 2015 Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study.

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

PMID 22949379 2013 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.

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

PMID 25559809 2015 Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.

PMID 18625694 2008 A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting.

PMID 15236168 2004 Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance.

PMID 16807412 2006 Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer.

PMID 18269114 2008 Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts.

PMID 28944238 2017 Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

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

rs2020912 in MSH6;FBXO11 gene and Colorectal Carcinoma PMID 14520694 2003 MSH6 germline mutations are rare in colorectal cancer families.

PMID 14961575 2004 Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden.

PMID 22102614 2012 A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.

PMID 15483016 2004 Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium.

PMID 12522549 2003 Two mismatch repair gene mutations found in a colon cancer patient--which one is pathogenic?

PMID 11807791 2002 Involvement of hMSH6 in the development of hereditary and sporadic colorectal cancer revealed by immunostaining is based on germline mutations, but rarely on somatic inactivation.

PMID 11470537 2001 Germline and somatic mutations in hMSH6 and hMSH3 in gastrointestinal cancers of the microsatellite mutator phenotype.

PMID 11709755 2002 Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.

PMID 10537275 1999 Germ-line msh6 mutations in colorectal cancer families.

PMID 10699937 2000 Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer.

PMID 10413423 1999 Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer.

PMID 11153917 2000 Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?

rs587783056 in MSH6;FBXO11 gene and Colorectal cancer, hereditary nonpolyposis, type 1 PMID 20028993 2010 Risks of Lynch syndrome cancers for MSH6 mutation carriers.

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 15483016 2004 Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium.

PMID 18301448 2008 No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients.

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

PMID 1548301 1992 In vivo measurement of the volume of distribution of water in cerebral grey matter: effects on the calculation of regional cerebral blood flow.

PMID 10508506 1999 Familial endometrial cancer in female carriers of MSH6 germline mutations.

rs2020912 in MSH6;FBXO11 gene and Endometrial Carcinoma PMID 11153917 2000 Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?

PMID 14961575 2004 Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden.

rs1114167801 in MSH6;FBXO11 gene and Hereditary Nonpolyposis Colorectal Cancer PMID 17453009 2007 Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.

PMID 9819445 1998 Saccharomyces cerevisiae Msh2p and Msh6p ATPase activities are both required during mismatch repair.

PMID 22102614 2012 A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.

PMID 16203774 2005 High frequency of hereditary colorectal cancer in Newfoundland likely involves novel susceptibility genes.

PMID 28873162 2017 Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing.

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

PMID 19851887 2010 An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC.

PMID 20028993 2010 Risks of Lynch syndrome cancers for MSH6 mutation carriers.

PMID 22949379 2013 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.

PMID 28944238 2017 Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

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

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

PMID 16885385 2006 Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients.

PMID 25559809 2015 Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.

PMID 17117178 2006 Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability.

PMID 25617771 2015 Impact of an immunohistochemistry-based universal screening protocol for Lynch syndrome in endometrial cancer on genetic counseling and testing.

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

PMID 16418736 2006 Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor.

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

PMID 18301448 2008 No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients.

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

PMID 21056691 2011 Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer.

PMID 26552419 2015 Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study.

PMID 22810696 2012 Comprehensive molecular characterization of human colon and rectal cancer.

PMID 16034045 2005 Immunohistochemistry identifies carriers of mismatch repair gene defects causing hereditary nonpolyposis colorectal cancer.

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

PMID 21642682 2011 Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.

PMID 10537275 1999 Germ-line msh6 mutations in colorectal cancer families.

PMID 11900875 2002 DNA mismatch repair defects: role in colorectal carcinogenesis.

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

PMID 25255306 2014 Complex MSH2 and MSH6 mutations in hypermutated microsatellite unstable advanced prostate cancer.

PMID 18566915 2009 Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population.

PMID 21155762 2011 Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome.

PMID 14520694 2003 MSH6 germline mutations are rare in colorectal cancer families.

PMID 27329137 2016 Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.

PMID 18809606 2008 Feasibility of screening for Lynch syndrome among patients with colorectal cancer.

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

PMID 26374070 2015 Targeted sequencing reveals clonal genetic changes in the progression of early lung neoplasms and paired circulating DNA.

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

PMID 23700467 2013 Targeted sequencing of cancer-related genes in colorectal cancer using next-generation sequencing.

PMID 25117503 2014 High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry.

PMID 19698169 2009 Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario.

PMID 28528517 2017 Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6.

PMID 26023681 2015 Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

PMID 15483016 2004 Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium.

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

PMID 29360161 2018 Germline mutation prevalence in individuals with pancreatic cancer and a history of previous malignancy.

PMID 20937110 2010 Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families.

PMID 20379851 2010 Atypical identification of Lynch syndrome by immunohistochemistry and microsatellite instability analysis on jejunal adenocarcinoma.

PMID 11807791 2002 Involvement of hMSH6 in the development of hereditary and sporadic colorectal cancer revealed by immunostaining is based on germline mutations, but rarely on somatic inactivation.

PMID 30013564 2018 No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency.

PMID 10508506 1999 Familial endometrial cancer in female carriers of MSH6 germline mutations.

PMID 29922827 2018 Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.

PMID 18307539 2008 Clinical features and mismatch repair genes analyses of Chinese suspected hereditary non-polyposis colorectal cancer: a cost-effective screening strategy proposal.

PMID 21671081 2011 Familial colorectal cancer: eleven years of data from a registry program in Switzerland.

PMID 23621914 2013 CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.

PMID 26274037 2015 Management of Acute Myeloblastic Leukemia in a Child With Biallelic Mismatch Repair Deficiency.

PMID 25307252 2015 The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis-like phenotype and early onset cancer.

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

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

PMID 26333163 2015 Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.

PMID 27498913 2016 Monogenic and polygenic determinants of sarcoma risk: an international genetic study.

PMID 30128536 2019 Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.

PMID 14974087 2004 In addition, an amino acid substitution of an arginine residue (c.2314C>T [p.R772W]) conserved throughout a wide variety of mutS homologs has been found in a patient not fulfilling the Bethesda criteria for HNPCC.

PMID 12732731 2003 Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers.

PMID 11470537 2001 Germline and somatic mutations in hMSH6 and hMSH3 in gastrointestinal cancers of the microsatellite mutator phenotype.

PMID 18176851 2008 Comprehensive analysis of the mismatch repair genes associated with Lynch syndrome revealed a germline hMSH6 missense mutation 2314C>T (arg772trp) and normal sequencing for hMSH2 and hMLH1.

PMID 21081928 2010 Tumours with loss of MSH6 expression are MSI-H when screened with a pentaplex of five mononucleotide repeats.

PMID 14974087 2004 Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue.

PMID 21247423 2011 Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome.

PMID 24278394 2013 Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.

PMID 16010685 2005 Rapid recognition of aberrant dHPLC elution profiles using the Transgenomic Navigator software.

PMID 16807412 2006 Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer.

PMID 27456091 2016 A cohort analysis of men with a family history of BRCA1/2 and Lynch mutations for prostate cancer.

PMID 19459153 2009 High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families.

PMID 15236168 2004 Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance.

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

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

PMID 20924129 2010 MSH6 and MUTYH deficiency is a frequent event in early-onset colorectal cancer.

PMID 18269114 2008 Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts.

PMID 28369758 2017 Atypical dermal melanocytosis: a diagnostic clue in constitutional mismatch repair deficiency syndrome.

PMID 9774676 1998 Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancer.

rs1060502926 in MSH6;FBXO11 gene and Hereditary Nonpolyposis Colorectal Neoplasms 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 26436112 2015 Multigene panel analysis identified germline mutations of DNA repair genes in breast and ovarian cancer.

PMID 18269114 2008 Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts.

PMID 24100870 2013 Molecular and clinical characteristics of MSH6 germline variants detected in colorectal cancer patients.

PMID 26787237 2016 Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol.

PMID 26200421 2015 [Constitutional mismatch repair deficiency syndrome].

PMID 15952900 2005 DNA mismatch repair.

PMID 16464007 2006 DNA mismatch repair: functions and mechanisms.

PMID 21155762 2011 Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome.

PMID 17531815 2007 Structure of the human MutSalpha DNA lesion recognition complex.

PMID 20028993 2010 Risks of Lynch syndrome cancers for MSH6 mutation carriers.

PMID 19851887 2010 An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC.

PMID 18301448 2008 No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients.

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

PMID 9774676 1998 Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancer.

PMID 12019211 2002 Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome.

PMID 16237223 2005 Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6.

PMID 14520694 2003 MSH6 germline mutations are rare in colorectal cancer families.

PMID 15236168 2004 Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance.

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

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 17718861 2007 Frequency of constitutional MSH6 mutations in a consecutive series of families with clinical suspicion of HNPCC.

PMID 25782445 2015 Clinical characterization and mutation spectrum in Caribbean Hispanic families with Lynch syndrome.

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

PMID 19324997 2009 Deficient DNA mismatch repair is common in Lynch syndrome-associated colorectal adenomas.

PMID 16885385 2006 Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients.

PMID 25617771 2015 Impact of an immunohistochemistry-based universal screening protocol for Lynch syndrome in endometrial cancer on genetic counseling and testing.

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

PMID 17117178 2006 Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability.

PMID 28195393 2017 Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome.

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

PMID 16418736 2006 Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor.

PMID 16034045 2005 Immunohistochemistry identifies carriers of mismatch repair gene defects causing hereditary nonpolyposis colorectal cancer.

PMID 21642682 2011 Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.

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

PMID 27601186 2016 Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.

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

PMID 21056691 2011 Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer.

PMID 10537275 1999 Germ-line msh6 mutations in colorectal cancer families.

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

PMID 26483394 2016 Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients.

PMID 26440929 2015 Identification of germline genetic mutations in patients with pancreatic cancer.

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

PMID 22495361 2012 MSH6 mutations are frequent in hereditary nonpolyposis colorectal cancer families with normal pMSH6 expression as detected by immunohistochemistry.

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

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

PMID 28944238 2017 Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

PMID 28531214 2017 Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.

PMID 26552419 2015 Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study.

PMID 22949379 2013 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.

PMID 25559809 2015 Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.

PMID 18809606 2008 Feasibility of screening for Lynch syndrome among patients with colorectal cancer.

PMID 10612827 2000 UMD (Universal mutation database): a generic software to build and analyze locus-specific databases.

PMID 25093288 2014 Lynch Syndrome in patients with clear cell and endometrioid cancers of the ovary.

PMID 19698169 2009 Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario.

PMID 25117503 2014 High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry.

PMID 26023681 2015 Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

PMID 11807791 2002 Involvement of hMSH6 in the development of hereditary and sporadic colorectal cancer revealed by immunostaining is based on germline mutations, but rarely on somatic inactivation.

PMID 20379851 2010 Atypical identification of Lynch syndrome by immunohistochemistry and microsatellite instability analysis on jejunal adenocarcinoma.

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

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

PMID 18625694 2008 A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting.

PMID 10508506 1999 Familial endometrial cancer in female carriers of MSH6 germline mutations.

PMID 15483016 2004 Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium.

PMID 17453009 2007 Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.

PMID 17323113 2007 An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation.

PMID 23621914 2013 CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.

PMID 16525781 2006 Polyposis and early cancer in a patient with low penetrant mutations in MSH6 and APC: hereditary colorectal cancer as a polygenic trait.

PMID 27456091 2016 A cohort analysis of men with a family history of BRCA1/2 and Lynch mutations for prostate cancer.

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 19459153 2009 High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families.

PMID 27616075 2017 Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.

PMID 21039432 2011 Constitutional mismatch repair-deficiency syndrome presenting as colonic adenomatous polyposis: clues from the skin.

PMID 21836479 2011 Challenges in the identification of MSH6-associated colorectal cancer: rectal location, less typical histology, and a subset with retained mismatch repair function.

PMID 25430799 2015 Genetic features of Lynch syndrome in the Israeli population.

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

PMID 16807412 2006 Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer.

PMID 23554159 2013 Design of a core classification process for DNA mismatch repair variations of a priori unknown functional significance.

PMID 28369758 2017 Atypical dermal melanocytosis: a diagnostic clue in constitutional mismatch repair deficiency syndrome.

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

PMID 24933100 2014 Consequences of universal MSI/IHC in screening ENDOMETRIAL cancer patients for Lynch syndrome.

rs1553413710 in MSH6;FBXO11 gene and Malignant tumor of colon PMID 22949379 2013 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.

rs1060502901 in MSH6;FBXO11 gene and Neoplastic Syndromes, Hereditary PMID 23733757 2013 Population-based molecular screening for Lynch syndrome: implications for personalized medicine.

PMID 25740784 2015 Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis.

PMID 17453009 2007 Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.

PMID 17117178 2006 Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability.

PMID 18301448 2008 No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients.

PMID 24040339 2013 Functional analysis in mouse embryonic stem cells reveals wild-type activity for three MSH6 variants found in suspected Lynch syndrome patients.

PMID 28531214 2017 Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.

PMID 16203774 2005 High frequency of hereditary colorectal cancer in Newfoundland likely involves novel susceptibility genes.

PMID 22851212 2012 Sub-cellular localization analysis of MSH6 missense mutations does not reveal an overt MSH6 nuclear transport impairment.

PMID 22102614 2012 A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.

PMID 20028993 2010 Risks of Lynch syndrome cancers for MSH6 mutation carriers.

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

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