Variant: rs63750250 

    present in Gene: PMS2
    present in Chromosome: 7
    Position on Chromosome: 5986933
    Alleles of this Variant: -/T

rs63750250 in PMS2 gene and Colorectal cancer, hereditary nonpolyposis, type 1 PMID 20205264 2010 Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.

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 15887099 2005 Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer.

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

rs63750250 in PMS2 gene and Hereditary Nonpolyposis Colorectal Cancer PMID 25512458 2015 Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.

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

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

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

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

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

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

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

PMID 22120844 2012 A state-wide population-based program for detection of lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours.

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

PMID 15887099 2005 Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer.

rs63750250 in PMS2 gene and Hereditary Nonpolyposis Colorectal Neoplasms PMID 24728189 2014 The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.

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

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

PMID 15887099 2005 Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer.

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

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

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

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

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

rs63750250 in PMS2 gene and Neoplastic Syndromes, Hereditary PMID 27037742 2016 Metachronous T-Lymphoblastic Lymphoma and Burkitt Lymphoma in a Child With Constitutional Mismatch Repair Deficiency Syndrome.

PMID 27017610 2016 Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency.

PMID 15887099 2005 Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer.

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

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

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

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