Condition: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4


rs587780059 in AIMP2;PMS2 gene and COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 26898890 2016 Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.

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.

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

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

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

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

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

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

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

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

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

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

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

PMID 16507833 2006 PMS2 mutations in childhood cancer.

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

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

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

rs587779333 in PMS2;AIMP2 gene and COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 PMID 23709753 2013 Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.

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

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

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

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

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