|
Turcot syndrome (disorder)
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Furthermore, we demonstrate, by the analysis of a PMS2/PMS2CL "hybrid" allele carrier, that RNA-based PMS2 testing effectively avoids the caveats of genomic DNA amplification approaches; i.e., pseudogene coamplification as well as allelic dropout, and will, thus, allow more sensitive mutation analysis in MMR deficiency and in HNPCC patients with PMS2 defects.
|
18030674 |
2008 |
|
Turcot syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe a patient with a clinical diagnosis of CMMRD based on colorectal polyposis and young-onset endometrial cancer who was identified to have two alterations in trans in PMS2: one known pathogenic mutation (c.1831insA; p.Ile611Asnfs*2) and one novel variant of uncertain significance (c.505C>G; p.Arg169Glu), a missense alteration.
|
27017610 |
2016 |
|
Turcot syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Overall, we found 52 different pathogenic PMS2 variants explaining 121 Lynch syndrome and nine CMMRD patients.
|
27435373 |
2016 |
|
Turcot syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts.
|
19039682 |
2009 |
|
Turcot syndrome (disorder)
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline Genetic Predisposition to Hematologic Malignancy.
|
28297620 |
2017 |
|
Turcot syndrome (disorder)
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.
|
17557300 |
2007 |
|
Turcot syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.
|
25691505 |
2015 |
|
Turcot syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mismatch repair deficiency in tumors can result from germ line mutations in one of the mismatch repair (MMR) genes (MLH1, MSH2, MSH6 and PMS2), or from sporadic promoter hypermethylation of MLH1.
|
18415027 |
2008 |
|
Turcot syndrome (disorder)
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Turcot syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Overall, we found 52 different pathogenic PMS2 variants explaining 121 Lynch syndrome and nine CMMRD patients.
|
27435373 |
2016 |
|
Turcot syndrome (disorder)
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
Lesions of both sites showed a DNA mismatch repair deficiency with immunohistochemical loss of MLH1 and PMS2 expression without MLH1 promoter hypermethylation.
|
29124495 |
2018 |
|
Turcot syndrome (disorder)
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Café-au-lait spots and early onset colorectal neoplasia: a variant of HNPCC?
|
14574005 |
2001 |
|
Turcot syndrome (disorder)
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Tumour susceptibility and spontaneous mutation in mice deficient in Mlh1, Pms1 and Pms2 DNA mismatch repair.
|
9500552 |
1998 |
|
Turcot syndrome (disorder)
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Furthermore, in the family with Turcot syndrome, in which the first inherited PMS2 mutation (R134X) was described, a further truncating mutation was identified on the other allele, in exon 13.
|
15077197 |
2004 |
|
Turcot syndrome (disorder)
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Neurofibromatosis and early onset of cancers in hMLH1-deficient children.
|
9927034 |
1999 |
|
Turcot syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Inherited mutations of the DNA Mismatch repair genes MLH1, MSH2, MSH6 and PMS2 can result in two hereditary tumor syndromes: the adult-onset autosomal dominant Lynch syndrome, previously referred to as Hereditary Non-Polyposis Colorectal Cancer (HNPCC) and the childhood-onset autosomal recessive Constitutional Mismatch Repair Deficiency syndrome.
|
26746812 |
2016 |
|
Turcot syndrome (disorder)
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.
|
25691505 |
2015 |
|
Turcot syndrome (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mechanistically, MMR deficiency in K-H-depleted cells was a consequence of reduced stability of the core MMR proteins (MLH1 and PMS2) caused by elevated basal caspase-dependent proteolysis.
|
26819409 |
2016 |
|
Turcot syndrome (disorder)
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene.
|
10763829 |
2000 |
|
Turcot syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
The molecular basis of Turcot's syndrome.
|
7661930 |
1995 |
|
Turcot syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.
|
26116798 |
2015 |
|
Turcot syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome.
|
30478739 |
2019 |
|
Turcot syndrome (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency.
|
23629955 |
2013 |
|
Turcot syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Furthermore, in the family with Turcot syndrome, in which the first inherited PMS2 mutation (R134X) was described, a further truncating mutation was identified on the other allele, in exon 13.
|
15077197 |
2004 |
|
Turcot syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Biallelic PMS2 mutations and a distinctive childhood cancer syndrome.
|
18376293 |
2008 |