| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.600 | AlteredExpression | disease | BEFREE | Immunohistochemistry was used to assess EPCAM expression in Lynch syndrome-associated MSH2-negative tumors (n = 26). | 21115857 | 2011 | ||||
|
0.600 | GeneticVariation | disease | BEFREE | We previously showed that constitutional 3' end deletions of EPCAM can cause Lynch syndrome through epigenetic silencing of MSH2 in EPCAM-expressing tissues, resulting in tissue-specific MSH2 deficiency. | 21145788 | 2011 | ||||
|
0.600 | GeneticVariation | disease | BEFREE | Members of Family R and Family A, all with the same EPCAM deletion, predominantly presented with CRC but no LS-associated endometrial cancer, confirming findings seen in other, smaller, LS families with EPCAM mutations. | 21769135 | 2011 | ||||
|
0.600 | GeneticVariation | disease | BEFREE | It was recently shown that constitutional 3' end deletions of EPCAM could cause Lynch syndrome in tissues with MSH2 deficiency. | 21791569 | 2011 | ||||
|
0.600 | GeneticVariation | disease | BEFREE | Recent studies have shown that some Lynch syndrome cases are due to 3' EPCAM/TACSTD1 deletions that subsequently lead to MSH2 promoter hypermethylation. | 21227399 | 2011 | ||||
|
0.600 | GeneticVariation | disease | BEFREE | EPCAM deletion analysis followed by MSH2 methylation testing of the tumor is a fast low-cost procedure that can be used to identify mutations that cause LS. | 20864635 | 2010 | ||||
|
0.600 | GeneticVariation | disease | BEFREE | Our results provide evidence that deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome. | 19177550 | 2009 | ||||
|
0.600 | GeneticVariation | disease | BEFREE | Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome. | 19455606 | 2009 | ||||
|
0.600 | GeneticVariation | disease | BEFREE | Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1. | 19098912 | 2009 | ||||
|
0.600 | Biomarker | disease | GENOMICS_ENGLAND |