Disease: Endometrial Carcinoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.030 GeneticVariation disease BEFREE Loss of MDC1 expression (defined as negative nuclear staining) was found in 8.9% (38/426) of ECs and was significantly associated with the loss of MRE11 homolog, double-strand break repair nuclease, RAD50 double-strand break repair protein and nibrin complex components. 31810920 2019
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.030 GeneticVariation disease BEFREE For the first time, we show that mutations in chromatin remodelling-related genes (KMT2D, KMT2C, SETD1B and BCOR) and in DNA-repair-related genes (BRCA1, BRCA2, RAD50 and CHD4) are frequent in this subtype of endometrial cancer. 27997699 2017
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.030 GeneticVariation disease BEFREE Loss of MRE11 protein was found in 30.7% of EC tumours and significantly associated with loss of RAD50, NBS1 and mismatch repair protein expression. 24927325 2014