Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Conventional (Clear Cell) Renal Cell Carcinoma
0.400 GeneticVariation disease BEFREE PTEN expression and mutations in TSC1, TSC2 and MTOR are associated with response to rapalogs in patients with renal cell carcinoma. 31335987 2020
Conventional (Clear Cell) Renal Cell Carcinoma
0.400 GeneticVariation disease BEFREE Detecting TSC2 mutation in patients with early RCC onset would be beneficial and mTOR inhibitor could be a therapeutic option for TSC2 mutation-induced RCC. 31454656 2019
Conventional (Clear Cell) Renal Cell Carcinoma
0.400 GeneticVariation disease BEFREE This Review describes important advances in the TSC field and highlights several remaining critical knowledge gaps: the factors that promote aggressive behaviour by a subset of TSC-associated RCCs; the molecular mechanisms underlying early-onset cystogenesis in TSC2-PKD1 contiguous gene deletion syndrome; the effect of early, long-term mTORC1 inhibition on the development of TSC renal disease; and the identification of the cell or cells of origin of angiomyolipomas. 30232410 2018
Conventional (Clear Cell) Renal Cell Carcinoma
0.400 GeneticVariation disease BEFREE Using capture-based and amplicon-based next-generation sequencing, we now demonstrate the consistent presence of either TSC1 or TSC2 gene mutations in pediatric ESC RCC (8/9 cases) and adult ESC RCC (6/6 cases). 29975249 2018
Conventional (Clear Cell) Renal Cell Carcinoma
0.400 GeneticVariation disease BEFREE Somatic mutations in TSC1 and TSC2 have also been reported in adult RCC, which predict response to mTOR inhibitors. 27748010 2017
Conventional (Clear Cell) Renal Cell Carcinoma
0.400 Biomarker disease BEFREE Knockdown of TSC2 in Caki-2 cells had similar results to 786-O cells, and mTOR silencing in 786-O cells rescued the inhibitory effect of betulin, indicating that betulin inhibited RCC cell proliferation in an mTOR-dependent manner. 27908730 2017
Conventional (Clear Cell) Renal Cell Carcinoma
0.400 AlteredExpression disease BEFREE In conclusion, while TSC2 is broadly downregulated in sporadic ccRCC, TSC1 expression is reduced in two subsets of these tumors, those with monoallelic VHL gene inactivation and those with concurrent low HIF-1α and high HIF-2α expression. 27845047 2016
Conventional (Clear Cell) Renal Cell Carcinoma
0.400 Biomarker disease BEFREE These data suggest that Akt/tuberin/mTOR pathway plays an important role in the regulation DNA damage and repair pathways that may predispose diabetic kidneys to pathogenesis of renal cell carcinoma. 24797175 2014
Conventional (Clear Cell) Renal Cell Carcinoma
0.400 GeneticVariation disease BEFREE Germline mutations in the MET and fumarate hydratase (FH) genes lead to the development of type 1 and type 2 papillary RCCs, respectively, and such mutations of either the TSC1 or TSC2 gene increase the risk of RCC. 21228928 2010
Conventional (Clear Cell) Renal Cell Carcinoma
0.400 GeneticVariation disease BEFREE Here, we will address the genetic, cellular and biochemical mechanisms that may contribute to the unusually broad spectrum of renal disease in cells with TSC1 or TSC2 mutations, and consider how the TSC signaling pathways may be linked to other renal diseases such as polycystic kidney disease and renal cell carcinoma. 15856327 2005
Conventional (Clear Cell) Renal Cell Carcinoma
0.400 GeneticVariation disease BEFREE Here, we will review the clinical association of RCC in TSC, consider the factors that have led to its under-emphasis within the RCC field, address the cellular and biochemical mechanisms that may contribute to RCC in cells with TSC1 or TSC2 mutations, and finally discuss the ways in which the TSC signaling pathways may be linked to sporadic RCC in the general population. 15579029 2004
Conventional (Clear Cell) Renal Cell Carcinoma
0.400 GeneticVariation disease BEFREE TSC1 and TSC2 mutations are related to various phenotypic manifestations and risks of malignancy, such as an increased incidence of the TSC2 mutation in patients with renal cell carcinoma. 12686801 2003
Conventional (Clear Cell) Renal Cell Carcinoma
0.400 AlteredExpression disease BEFREE These data indicate that biallelic inactivation of TSC1 or TSC2 is not frequent in sporadic RCC and suggests that the molecular mechanisms of renal carcinogenesis in TSC are likely to be distinct. 11710839 2001
Conventional (Clear Cell) Renal Cell Carcinoma
0.400 CausalMutation disease CGI
Conventional (Clear Cell) Renal Cell Carcinoma
0.400 GenomicAlterations disease CGI