Familial syndromes associated with human brain tumours
| Disorder | Gene | Location | Protein function | Tumour types associated with disorder | Involved in sporadic CNS tumours | References |
|---|---|---|---|---|---|---|
| PNET, primitive neuroectodermal tumour; SHH, sonic hedgehog; SMO, smoothened. | ||||||
| Li fraumeni | TP53 (only 70%) | 17p13.1 | Transcription factor, apoptosis induction, etc | Many including astrocytomas | Mainly astrocytic | 114, 115 |
| Neurofibromatosis type 1 | NF1 | 17q11.2 | GTPase activating protein homology | Astrocytomas (brain stem optic nerve) ependymomas, PNETs and meningiomas (pheochromocytoma), etc | Unknown | 5, 116 |
| Neurofibromatosis type 2 | NF2 | 22q12.2 | Ezrin/moesin/radixin-like | Vestibular schwannomas, meningiomas, spinal schwannomas | Meningiomas, schwannomas | 117 |
| Familial adenomatous polyposis coli (or Turcot syndrome A) | APC | 5q21−q22 | Regulates β-catenin | Medulloblastoma | Unknown | 118, 119 |
| Hereditary non-polyposis colorectal cancer (or Turcot syndrome B) | MLH1 | 3p21.3 | Microsatellite instability (MIN+) | Glioblastoma (unknown if all germline mutations are associated with glioblastoma) | Unknown; astrocytic tumours that are MIN+ occur but are uncommon | 118 |
| MSH2 | 2p22−p21 | |||||
| MLH3 | 14q24 | |||||
| PMS1 | 2q31−q33 | |||||
| PMS2 | 7p22 | |||||
| Basal cell naevus syndrome/Gorlin’s syndrome | PTCH | 9q22.3 | Receptor for SHH inhibits SMO | Medulloblastoma | Medulloblastoma | 119 |
| Cowden disease (multiple hamartoma syndrome, Lhermitte-Duclos, etc) | PTEN | 10q22−q23 | Dual specificity phosphatase and Tensin homology | Astrocytomas reported but tumours in other organs more common—thyroid, breast, female genito-urinary tract | Glioblastomas | 120 |
| Melanoma-astrocytoma syndrome | CDKN2A/p14ARF | 9p21 | Cell cycle control (G1-S)/p53 level control | Astrocytomas | Astrocytic | 121 |