Disease: Lynch Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.020 GeneticVariation disease BEFREE This study has the main goal to identify cFSM in MSI target genes relevant in CMMR-D and to compare the spectrum of common somatic mutations, including alterations in DNA polymerases POLE and D1 between LS and CMMR-D. CMMR-D-associated tumors harbored more somatic mutations compared to LS cases, especially in the TP53 gene and in POLE and POLD1, where novel mutations were additionally identified. 28218421 2017
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.020 Biomarker disease BEFREE Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers. 26648449 2016