|
Turcot syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.
|
15077197 |
2004 |
|
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 |
Biomarker
|
disease |
BEFREE |
Mismatch repair deficiency is strongly associated with responsiveness to anti-PD-1 in other cancers and can be detected using immunohistochemistry for MLH1, MSH2, MHS6, and PMS2.
|
31702999 |
2020 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Evidence from five published cases suggested that contrary to the Knudson principle, PMS2 mutations cause hereditary nonpolyposis colorectal cancer or Turcot syndrome only when they are biallelic in the germline or abnormally expressed.
|
15256438 |
2004 |
|
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 |
|
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 |
Biomarker
|
disease |
BEFREE |
Concerning the background endometrium, two cases showed partial loss of MLH1 and PMS2, corresponding to adjacent EC lesions, suggesting that MMR deficiency may already be present in the background endometrium.
|
31307113 |
2019 |
|
Turcot syndrome (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
Herein, we investigate the clinical meaning of MMR deficiency in breast cancer by immunohistochemical assessment of MSH2, MSH6, MLH1 and PMS2 on a large series of breast cancers linked to detailed biomarker and long-term outcome data.
|
31522348 |
2020 |
|
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 |
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Biallelic PMS2 mutations and a distinctive childhood cancer syndrome.
|
18376293 |
2008 |
|
Turcot syndrome (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our findings point out the association between PMS2 and TS, and support the hypothesis that patients with a few polyps, small bowel tumors with a very early onset, glioblastoma, and CALS should be considered as a variant of hereditary nonpolyposis colorectal cancer.
|
16144131 |
2005 |
|
Turcot syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Among these, PMS2 mutations are associated with diverse clinical features, including those of the Turcot syndrome.
|
16136382 |
2005 |
|
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 |
CLINVAR |
[Retrospective NGS Study in High-risk Hereditary Cancer Patients at Masaryk Memorial Cancer Institute].
|
26691941 |
2016 |