Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265325
Disease: Turcot syndrome (disorder)
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
CUI: C0265325
Disease: Turcot syndrome (disorder)
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
CUI: C0265325
Disease: Turcot syndrome (disorder)
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
CUI: C0265325
Disease: Turcot syndrome (disorder)
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
CUI: C0265325
Disease: Turcot syndrome (disorder)
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
CUI: C0265325
Disease: Turcot syndrome (disorder)
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
CUI: C0265325
Disease: Turcot syndrome (disorder)
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
CUI: C0265325
Disease: Turcot syndrome (disorder)
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
CUI: C0265325
Disease: Turcot syndrome (disorder)
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
CUI: C0265325
Disease: Turcot syndrome (disorder)
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
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.800 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.800 GeneticVariation disease CLINVAR [Retrospective NGS Study in High-risk Hereditary Cancer Patients at Masaryk Memorial Cancer Institute]. 26691941 2016
CUI: C0265325
Disease: Turcot syndrome (disorder)
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
CUI: C0265325
Disease: Turcot syndrome (disorder)
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
CUI: C0265325
Disease: Turcot syndrome (disorder)
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
CUI: C0265325
Disease: Turcot syndrome (disorder)
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
CUI: C0265325
Disease: Turcot syndrome (disorder)
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
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.800 Biomarker disease GENOMICS_ENGLAND Germline Mutations in Predisposition Genes in Pediatric Cancer. 27050224 2016
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.800 GeneticVariation disease BEFREE A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype. 25691505 2015
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.800 Biomarker disease GENOMICS_ENGLAND A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype. 25691505 2015
CUI: C0265325
Disease: Turcot syndrome (disorder)
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
CUI: C0265325
Disease: Turcot syndrome (disorder)
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
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.800 GermlineCausalMutation disease ORPHANET Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome. 23483711 2013
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.800 Biomarker disease GENOMICS_ENGLAND ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.800 CausalMutation disease CLINVAR Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency. 23629955 2013