| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| tumoral
|
| deletion
|
|
|
|
P15 deleted in T or B cell acute lymphoblastic leukemia,follicle center lymphoma (poor prognosis) |
| tumoral
|
| deletion
|
|
|
|
in osteosarcomas, Ewing sarcomas and in breast cancer |
| tumoral
|
|
|
| loss of function
|
|
or deletion in ovarian granulosa cell tumors |
| tumoral
|
| deletion
|
|
|
by hypermethylation of CpG islands, in acute lymphoblastic leukemia (ALL)  |
| tumoral
|
| deletion
|
|
|
|
minimal common deleted region removing CDKN2A exon 1 and CDKN2B exon 2 in diffuse large B-cell lymphomas |
| constitutional
|
|
|
| loss of function
|
|
may not only promote cardiovascular disease through the development of atherosclerosis but may also impair TGFB1 signaling and hypoxic neovessel maturation |
| tumoral
|
|
| --low
|
|
|
by hypermethylation may be a poor prognostic marker in childhood ALL |
| tumoral
| germinal mutation
|
|
|
|
|
will have an impact on familial cancer screening and might prove to influence the management of disseminated disease |
| tumoral
|
|
| --low
|
|
|
by promoter methylation may be closely implicated in the pathogenesis of multiple myeloma (MM) |
| constitutional
|
|
| --low
|
|
|
and increased smooth muscle cell apoptosis may be one mechanism underlying the 9p21.3 association with aneurysmal disease |
