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 |
GermlineCausalMutation
|
disease |
ORPHANET |
Constitutional mismatch repair-deficiency syndrome.
|
20442441 |
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 |
Biomarker
|
disease |
CLINGEN |
A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots.
|
11809679 |
2002 |
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 |
Biomarker
|
disease |
CTD_human |
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 |
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 |
GermlineCausalMutation
|
disease |
ORPHANET |
Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome.
|
23483711 |
2013 |
Turcot syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
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 |
Biomarker
|
disease |
CLINGEN |
Contributions by MutL homologues Mlh3 and Pms2 to DNA mismatch repair and tumor suppression in the mouse.
|
16204034 |
2005 |
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 |
UNIPROT |
Drastic genetic instability of tumors and normal tissues in Turcot syndrome.
|
9419979 |
1997 |
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 |
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 |
CTD_human |
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 |
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 |
CLINGEN |
A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer.
|
15340263 |
2004 |
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 |
GENOMICS_ENGLAND |
PMS2 mutations in childhood cancer.
|
16507833 |
2006 |
Turcot syndrome (disorder)
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
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 |
GENOMICS_ENGLAND |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
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 |