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Inactivated in tumors
Articles
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NF1
14 April 2004 -
AKT1
24 November 2004Proteine kinase B, PKB, PKB-alpha, Proteine kinase B-alpha
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FLCN
27 November 2004folliculin, FLCL
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PRDM2
19 March 2006RIZ1
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BRCA1
29 September 2003Wikipedia
Definition: BRCA1 is a tumor suppressor that functions in controlling cell growth and maintaining genomic stability. The breast and ovarian cancer susceptibility gene BRCA1 encodes a zinc-finger protein of unknown function.
BRCA1 is a tumour suppressor that has important roles in the protection against genomic instability.
Cells lacking BRCA1 are hypersensitive to many DNA-damaging agents such as ultraviolet light and ionizing radiation, and show defects in both S- and (...) -
CDKN2A
12 December 2003p16 protein, P16, INK4, INK4A, CYCLIN-DEPENDENT KINASE INHIBITOR 2A, CDKN2A
Definition: p16 is an inhibitor of cyclin-dependent kinases. p16INK4 gene encodes a specific inhibitor of cyclin-dependent kinase 4 (CDK4). p16INK4a binds to cyclin D-CDK4 and promotes the inhibitory effects of RB.
Since the CDK4/cyclin D complex propels a cell to go through the G1 check point of the cell cycle, a critical phase of cell division, alteration of the p16INK4 gene could lead a cell to uncontrolled (...) -
MLH1
29 September 2003mismatch repair gene
MLH is homologous to the E. coli MutL gene and is involved in DNA mismatch repair. Mutations in the MLH1 gene result in hereditary nonpolyposis colorectal cancer-2 (HNPCC2) (MIM.609310).
Pathology
Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant cancer predisposition syndrome caused by inherited germ line mutations in DNA mismatch repair genes, predominantly MSH2 and MLH1.
MLH1 loss of expression (...) -
MUTYH
20 November 2003DNA glycosylase MYH, homolog of E. coli MutY; mutY homolog (E. coli)
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SMARCB1
24 November 2003INI1, SNF5, INI1/SNF5
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CTNNB1
11 July 2003CTNNB1, cadherin-associated protein, beta-catenin PO WP
Definition: Protein encoded by CTNNB1 gene, coordinates cell–cell adhesion and gene transcription.
Function
Part of Wnt signalling pathway, highly conserved pathway with critical role in embryologic development (Dev Cell 2009;17:9), carcinogenesis and epithelial-to-mesenchymal transition.
Upon Wnt activation, β-catenin is translocated from membrane (where it interacts with E-cadherin) to cytoplasm and nucleus, where it (...)
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