Condition: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5


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.

rs267608026 in MSH6 gene and COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 PMID 10480359 1999 Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis 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 10521294 1999 Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations.

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

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

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

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

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.