| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| tumoral
| somatic mutation
|
|
|
|
|
in desmoplastic medulloblastoma and in basal cells carcinoma |
| tumoral
|
|
|
| loss of function
|
|
in medulloblastoma and skin tumors |
| tumoral
| somatic mutation
|
|
|
|
|
in basal cell carcinoma (BCC) of the skin |
| tumoral
|
| LOH
|
|
|
|
in ovarian tumors, benign or malignant, sporadic basal cell carcinoma, small cell lung carcinoma, lymph node metastasis of primary breast cancer |
| tumoral
|
| deletion
|
|
|
|
in papillary thyroid carcinoma, in trichoepithelioma, sebaceous nevus, non-melanoma skin cancer, basal cell carcinoma |
| tumoral
| germinal mutation
|
|
|
|
|
in bladder carcinoma |
| tumoral
| somatic mutation
|
|
|
|
|
in keratocystic odontogenic tumors |
| constitutional
|
| amplification
|
|
|
duplication in a family with microcephaly and mild developmental delay  |
| tumoral
|
| LOH
|
|
|
|
in nonsyndromic or sporadic cardiac fibroma |
| tumoral
|
|
| --other
|
|
|
aberrant methylation of the PTCH1 promoter may be an early, initiating event of colon carcinogenesis |
| constitutional
|
|
|
| loss of function
|
|
concomitant loss of PTCH1 and PTCH2 activity inhibits epidermal lineage specification and differentiation |
