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

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

rs193922343 in FBXO11;MSH6 gene and COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 PMID 21642682 2011 Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.

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

PMID 18389388 2008 Mutation spectrum in HNPCC in the Israeli population.

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

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

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

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

PMID 9354786 1997 Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer.

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

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

PMID 23047549 2012 Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer.

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

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

PMID 22006311 2011 Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

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

PMID 9929971 1999 Germline mutations in a polycytosine repeat of the hMSH6 gene in Korean hereditary nonpolyposis colorectal cancer.

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

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

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

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

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

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

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

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

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 8063241 1994 Endometrial cancer in four sisters: report of a kindred with presumed cancer family syndrome.

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

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

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

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 16283884 2005 Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome.

PMID 26720728 2016 Inherited Mutations in Women With Ovarian Carcinoma.

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

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

PMID 27443514 2016 Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort.

rs267608140 in FBXO11;MSH6 gene and Colorectal Carcinoma 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 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 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 22102614 2012 A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.

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

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

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

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

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

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

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

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

rs63750342 in FBXO11;MSH6 gene and Colorectal cancer, hereditary nonpolyposis, type 1 PMID 10348829 1999 New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC.

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 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.

rs63750741 in FBXO11;MSH6 gene and Endometrial Carcinoma 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 11153917 2000 Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?

rs1553333346 in FBXO11;MSH6 gene and Gaucher Disease, Type 1 PMID 22493294 2012 Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis.

rs1021631442 in FBXO11;MSH6 gene and Hereditary Nonpolyposis Colorectal Cancer PMID 23047549 2012 Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer.

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

PMID 26633542 2016 Clinical application of whole-exome sequencing across clinical indications.

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

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

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

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

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

PMID 22006311 2011 Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

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

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

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

PMID 15837969 2005 Molecular analysis of familial endometrial carcinoma: a manifestation of hereditary nonpolyposis colorectal cancer or a separate syndrome?

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

PMID 20007843 2010 Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients.

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

PMID 20045164 2010 Taiwan hospital-based detection of Lynch syndrome distinguishes 2 types of microsatellite instabilities in colorectal cancers.

PMID 19526325 2009 Screening for germline mutations of MLH1, MSH2, MSH6 and PMS2 genes in Slovenian colorectal cancer patients: implications for a population specific detection strategy of Lynch syndrome.

PMID 21674763 2011 High-grade brain tumors in siblings with biallelic MSH6 mutations.

PMID 22480969 2012 Simplified identification of Lynch syndrome: a prospective, multicenter study.

PMID 20591884 2010 Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers.

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

PMID 9929971 1999 Germline mutations in a polycytosine repeat of the hMSH6 gene in Korean hereditary nonpolyposis colorectal cancer.

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

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

PMID 24068316 2014 Diversity of the clinical presentation of the MMR gene biallelic mutations.

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

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

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

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

PMID 9307272 1997 Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred.

PMID 25110875 2015 Lynch-like syndrome: characterization and comparison with EPCAM deletion carriers.

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

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

PMID 22219001 2012 The founder Ashkenazi Jewish mutations in the MSH2 and MSH6 genes in Israeli patients with gastric and pancreatic cancer.

PMID 15098177 2004 Penetrance and expressivity of MSH6 germline mutations in seven kindreds not ascertained by family history.

PMID 23990280 2014 Lynch Syndrome in high risk Ashkenazi Jews in Israel.

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

PMID 15872200 2005 Screening for the Lynch syndrome (hereditary nonpolyposis 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 18415027 2008 Genome-wide copy neutral LOH is infrequent in familial and sporadic microsatellite unstable carcinomas.

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

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

PMID 21868491 2012 Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer.

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

PMID 28502729 2017 Improving Mutation Screening in Patients with Colorectal Cancer Predisposition Using Next-Generation Sequencing.

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

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 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 25111426 2014 Somatic aberrations of mismatch repair genes as a cause of microsatellite-unstable cancers.

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

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

PMID 25370038 2015 Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer.

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 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 19931546 2010 Detection of genetic alterations in hereditary colorectal cancer screening.

PMID 16283884 2005 Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome.

PMID 18550572 2008 Differential cancer predisposition in Lynch syndrome: insights from molecular analysis of brain and urinary tract tumors.

PMID 15805151 2005 No MSH6 germline mutations in breast cancer families with colorectal and/or endometrial cancer.

PMID 25318681 2015 Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population.

PMID 11479205 2001 p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition.

PMID 22691310 2012 Breast carcinoma and Lynch syndrome: molecular analysis of tumors arising in mutation carriers, non-carriers, and sporadic cases.

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 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 22250089 2012 Human MSH6 deficiency is associated with impaired antibody maturation.

PMID 28481244 2017 Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome.

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

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

PMID 19072991 2009 Population-based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test.

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

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

PMID 18409202 2008 Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus.

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 16283884 2005 In this study, we show segregation of the putative pathogenic MSH6 missense mutation c.1346T>C p.Leu449Pro with microsatellite instability-high Lynch syndrome-related tumours lacking MSH6 expression in a large 17th century pedigree.

PMID 24434690 2014 Prostate cancer incidence in males with Lynch syndrome.

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

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

PMID 29212164 2017 Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort.

PMID 23263490 2013 Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.

PMID 28176205 2017 Correlation between germline mutations in MMR genes and microsatellite instability in ovarian cancer specimens.

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

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

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

PMID 11641390 2001 Asymmetric recognition of DNA local distortion. Structure-based functional studies of eukaryotic Msh2-Msh6.

PMID 19659577 2009 DNA base repair--recognition and initiation of catalysis.

PMID 10938287 2000 Mismatch recognition and DNA-dependent stimulation of the ATPase activity of hMutSalpha is abolished by a single mutation in the hMSH6 subunit.

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

rs1057517764 in FBXO11;MSH6 gene and Hereditary Nonpolyposis Colorectal Neoplasms 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 24728189 2014 The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.

PMID 26485756 2015 Prognostic impact of mismatch repair genes germline defects in colorectal cancer patients: are all mutations equal?

PMID 25110875 2015 Lynch-like syndrome: characterization and comparison with EPCAM deletion carriers.

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

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 26687385 2016 Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel.

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

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

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 22306203 2012 Prospective evaluation of molecular screening for Lynch syndrome in patients with endometrial cancer ≤ 70 years.

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

PMID 23729658 2013 UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families.

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

PMID 16464007 2006 DNA mismatch repair: functions and mechanisms.

PMID 15952900 2005 DNA mismatch repair.

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

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

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

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

PMID 18389388 2008 Mutation spectrum in HNPCC in the Israeli population.

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

PMID 23047549 2012 Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer.

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

PMID 22006311 2011 Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

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

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

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

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 9929971 1999 Germline mutations in a polycytosine repeat of the hMSH6 gene in Korean hereditary nonpolyposis colorectal cancer.

PMID 22734033 2012 Germline mutation in MSH6 associated with multiple malignant neoplasms in a patient With Muir-Torre syndrome.

PMID 9307272 1997 Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred.

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 15837969 2005 Molecular analysis of familial endometrial carcinoma: a manifestation of hereditary nonpolyposis colorectal cancer or a separate syndrome?

PMID 20591884 2010 Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers.

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

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 20007843 2010 Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients.

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

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

PMID 15098177 2004 Penetrance and expressivity of MSH6 germline mutations in seven kindreds not ascertained by family history.

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

PMID 16360201 2006 The contribution of the hereditary nonpolyposis colorectal cancer syndrome to the development of ovarian cancer.

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

PMID 12376742 2002 Ovarian cancer of endometrioid type as part of the MSH6gene mutation phenotype.

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

PMID 23990280 2014 Lynch Syndrome in high risk Ashkenazi Jews in Israel.

PMID 26544533 2016 Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity.

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

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

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

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

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 21868491 2012 Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer.

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

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

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

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

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

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

PMID 27443514 2016 Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort.

PMID 22144684 2012 Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases.

PMID 25142776 2015 Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations.

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 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 17199584 2007 MSH6 mutation in Muir-Torre syndrome: could this be a rare finding?

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

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

PMID 18409202 2008 Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus.

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

PMID 22250089 2012 Human MSH6 deficiency is associated with impaired antibody maturation.

PMID 16283884 2005 Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome.

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

PMID 2059188 1991 """Central arousal"" and sexual responsiveness in the snail, Helix aspersa."

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

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

PMID 23263490 2013 Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.

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

PMID 19130300 2009 Sarcomas associated with hereditary nonpolyposis colorectal cancer: broad anatomical and morphological spectrum.

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

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

rs1553335247 in FBXO11;MSH6 gene and INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES PMID 29796876 2018 De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.

PMID 27620904 2017 High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.

PMID 30057029 2018 De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

rs1021631442 in FBXO11;MSH6 gene and Malignant tumor of colon PMID 23047549 2012 Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer.

rs1057517764 in FBXO11;MSH6 gene and Neoplastic Syndromes, Hereditary PMID 20028993 2010 Risks of Lynch syndrome cancers for MSH6 mutation carriers.

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 26687385 2016 Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel.

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

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

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

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

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

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

PMID 23047549 2012 Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer.

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

PMID 22006311 2011 Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

PMID 19194194 2009 Compound heterozygosity for MSH6 mutations in a pediatric lymphoma patient.

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

PMID 19526325 2009 Screening for germline mutations of MLH1, MSH2, MSH6 and PMS2 genes in Slovenian colorectal cancer patients: implications for a population specific detection strategy of Lynch syndrome.

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

PMID 22734033 2012 Germline mutation in MSH6 associated with multiple malignant neoplasms in a patient With Muir-Torre syndrome.

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

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

PMID 20591884 2010 Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers.

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

PMID 9307272 1997 Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred.

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 28481244 2017 Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome.

PMID 9929971 1999 Germline mutations in a polycytosine repeat of the hMSH6 gene in Korean hereditary nonpolyposis colorectal cancer.

PMID 26648449 2016 Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers.

PMID 23541221 2013 Germline HOXB13 p.Gly84Glu mutation and risk of colorectal cancer.

PMID 12376742 2002 Ovarian cancer of endometrioid type as part of the MSH6gene mutation phenotype.

PMID 16360201 2006 The contribution of the hereditary nonpolyposis colorectal cancer syndrome to the development of ovarian cancer.

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

PMID 23990280 2014 Lynch Syndrome in high risk Ashkenazi Jews in Israel.

PMID 20007843 2010 Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients.

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

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

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

PMID 15098177 2004 Penetrance and expressivity of MSH6 germline mutations in seven kindreds not ascertained by family history.

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

PMID 12373605 2002 Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach.

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

PMID 23588873 2013 Genotype-phenotype correlation in MMR mutation-positive families with Lynch syndrome.

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

PMID 19575290 2010 Mismatch repair defective breast cancer in the hereditary nonpolyposis colorectal cancer syndrome.

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

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

PMID 28502729 2017 Improving Mutation Screening in Patients with Colorectal Cancer Predisposition Using Next-Generation Sequencing.

PMID 24244552 2013 Prevalence of Lynch syndrome among patients with newly diagnosed endometrial cancers.

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

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

PMID 27965287 2017 Clinical Challenges Associated with Universal Screening for Lynch Syndrome-Associated Endometrial Cancer.

PMID 25782445 2015 Clinical characterization and mutation spectrum in Caribbean Hispanic families with 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 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 27013479 2016 Frequent mismatch-repair defects link prostate cancer to Lynch syndrome.

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

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

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

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

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

PMID 27443514 2016 Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort.

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 12547705 2003 Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors.

PMID 10471527 1999 hMLH1, hMSH2 and hMSH6 mutations in hereditary non-polyposis colorectal cancer families from southern Sweden.

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

PMID 26720728 2016 Inherited Mutations in Women With Ovarian Carcinoma.

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 16283884 2005 Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome.

PMID 25370038 2015 Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer.

PMID 25142776 2015 Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations.

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 18550572 2008 Differential cancer predisposition in Lynch syndrome: insights from molecular analysis of brain and urinary tract tumors.

PMID 15837969 2005 Molecular analysis of familial endometrial carcinoma: a manifestation of hereditary nonpolyposis colorectal cancer or a separate syndrome?

PMID 11479205 2001 p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition.

PMID 17199584 2007 MSH6 mutation in Muir-Torre syndrome: could this be a rare finding?

PMID 22250089 2012 Human MSH6 deficiency is associated with impaired antibody maturation.

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

PMID 26832770 2016 Massively Parallel Sequencing-Based Clonality Analysis of Synchronous Endometrioid Endometrial and Ovarian Carcinomas.

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

PMID 27398995 2016 Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer.

PMID 18409202 2008 Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus.

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

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 19072991 2009 Population-based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test.

PMID 25345868 2015 Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome.

PMID 24434690 2014 Prostate cancer incidence in males with Lynch syndrome.

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

PMID 22277660 2012 Biochemical analysis of the human mismatch repair proteins hMutSα MSH2(G674A)-MSH6 and MSH2-MSH6(T1219D).

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

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

PMID 15324697 2004 Dominant effects of an Msh6 missense mutation on DNA repair and cancer susceptibility.

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

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

PMID 29212164 2017 Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort.

PMID 28176205 2017 Correlation between germline mutations in MMR genes and microsatellite instability in ovarian cancer specimens.

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

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

PMID 23263490 2013 Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.

PMID 27723366 2016 Teenage colorectal polyposis and cancer may be caused by constitutional mismatch repair deficiency (CMMRD).

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

PMID 26517685 2015 Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients.

PMID 16736289 2006 Germline mutations of the hMLH1 and hMSH2 mismatch repair genes in Belgian hereditary nonpolyposis colon cancer (HNPCC) patients.

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

PMID 10938287 2000 Mismatch recognition and DNA-dependent stimulation of the ATPase activity of hMutSalpha is abolished by a single mutation in the hMSH6 subunit.

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

PMID 21868491 2012 Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer.

rs1021631442 in FBXO11;MSH6 gene and Polyp of large intestine PMID 23047549 2012 Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer.