FH, fumarate hydratase, 2271

N. diseases: 231; N. variants: 143
Disease: Breast Carcinoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.120 Biomarker disease BEFREE Depletion of TKT or addition of alpha-ketoglutarate (αKG) enhanced the levels of tumor suppressors succinate dehydrogenase and fumarate hydratase (FH), decreasing oncometabolites succinate and fumarate, and further stabilizing HIF prolyl hydroxylase 2 (PHD2) and decreasing HIF1α, ultimately suppressing breast cancer metastasis. 29599405 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.120 GeneticVariation disease BEFREE These data validate p53-MCL as reliable and specific test for germline ATM variants, confirm ATM as breast cancer susceptibility gene, and highlight a possible association with breast/thyroid cancers. 27599564 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.120 GeneticVariation disease CLINVAR