Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
tumoral
| germinal mutation
|  
|  
|  
|
in pulmonary lymphangioleiomyomatosis |
tumoral
| somatic mutation
|  
|  
|  
|
in renal angiomyolipoma, clear cell renal carcinoma and bladder carcinoma |
tumoral
|  
| LOH
|  
|  
|
in transitional cell carcinoma of the bladder |
tumoral
|  
| LOH
|  
|  
|
in hamartoma |
tumoral
|  
|  
|  
| loss of function
|
in hamartoma, in kidney tumor |
tumoral
| somatic mutation
|  
|  
| loss of function
|
two-hit mechanism of biallelic inactivation of TSC1 or TSC2, leading to activation of MTOR and to subependymal giant cell |
tumoral
|  
|  
| --other
|  
|
aberrantly expressed in breast cancer cell lines and breast tumour tissues with poor prognosis and promoters are seen to be methylated in breast tumour tissues |
constitutional
|  
|  
|  
|  
|
cells lacking TSC1 have cilia that are on average 17–27 p100 longer than wild-type cells, which indicates a defect in normal ciliogenesis (Hartman 2009) |
constitutional
|  
|  
| --over
|  
|
increased resistance to oxygen glucose deprivation (OGD) by inducing productive autophagy through an MTOR-dependent mechanism |
constitutional
|  
|  
| --low
| loss of function
|
loss of the TSC1 gene in the distal convoluted tubules is sufficient for renal cystogenesis |