Variant: rs121434629 

    present in Gene: PMS2
    present in Chromosome: 7
    Position on Chromosome: 6005918
    Alleles of this Variant: C/A;T

rs121434629 in PMS2 gene and COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 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 17557300 2007 Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.

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.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

PMID 24897087 2014 Clinical problem-solving. Spot diagnosis.

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

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

rs121434629 in PMS2 gene and Hereditary Nonpolyposis Colorectal Neoplasms PMID 26866578 2016 Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses.

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

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

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

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

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

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

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

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

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

rs121434629 in PMS2 gene and Neoplastic Syndromes, Hereditary PMID 25871621 2015 Germline MLH1 Mutations Are Frequently Identified in Lynch Syndrome Patients With Colorectal and Endometrial Carcinoma Demonstrating Isolated Loss of PMS2 Immunohistochemical Expression.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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