|
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 |
GermlineCausalMutation
|
disease |
ORPHANET |
Constitutional mismatch repair-deficiency syndrome.
|
20442441 |
2010 |
|
Turcot syndrome (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
We propose that staining for PMS2 and MSH6 alone will be sufficient to detect all cases of mismatch repair deficiency and should replace routine screening with all four antibodies.
|
20632815 |
2010 |
|
Turcot syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations.
|
21204794 |
2011 |
|
Turcot syndrome (disorder)
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome.
|
23483711 |
2013 |
|
Turcot syndrome (disorder)
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
|
24362816 |
2014 |
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.
|
25691505 |
2015 |
|
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 |
CLINVAR |
[Retrospective NGS Study in High-risk Hereditary Cancer Patients at Masaryk Memorial Cancer Institute].
|
26691941 |
2016 |
|
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 |
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 |
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 |
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 |
GENOMICS_ENGLAND |
Germline Mutations in Predisposition Genes in Pediatric Cancer.
|
27050224 |
2016 |
|
Turcot syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Frameshift mutational target gene analysis identifies similarities and differences in constitutional mismatch repair-deficiency and Lynch syndrome.
|
28218421 |
2017 |
|
Turcot syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Biallelic PMS2 Mutation and Heterozygous DICER1 Mutation Presenting as Constitutional Mismatch Repair Deficiency With Corpus Callosum Agenesis: Case Report and Review of Literature.
|
28562508 |
2017 |
|
Turcot syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline PMS2 and somatic POLE exonuclease mutations cause hypermutability of the leading DNA strand in biallelic mismatch repair deficiency syndrome brain tumours.
|
28805995 |
2017 |
|
Turcot syndrome (disorder)
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline Genetic Predisposition to Hematologic Malignancy.
|
28297620 |
2017 |
|
Turcot syndrome (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
- Ninety-three colorectal carcinomas with isolated PMS2 loss by immunohistochemistry and 193 with other forms of mismatch repair deficiency were identified.
|
29336605 |
2018 |
|
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 |
BEFREE |
Of note 8/9 (89%) IHC positive cases were both MMRd (all showing MLH1/PMS2 loss) and lacked BRAFV600E mutation.
|
31792356 |
2019 |