Oncogenes
| | |
HRAS (11p15) | Activating mutation | 10–15% overall (high grade)2–4 |
FGFR3 (4p16) | Activating mutation | 30–40%5 6 |
ERBB2 (17q ) | Amplification/overexpression | Amplified 10–14% high grade/stage7–11 |
CCND1(11q13) | Amplification/overexpression | 10–20% all grades and stages12–14 |
MDM2 (12q13) | Amplification/overexpression | Amplified 1–4%15 16 |
Tumour suppressor genes
| | |
INK4A-ARF (9p21) | Homozygous deletion/methylation/mutation | 20–30% high grade/stage17–19 |
| | LOH 60% all grades/stages |
| | Immortalisation in vitro20 |
RB1 (13q14) | Deletion/mutation | 10–15% overall21–23 |
| | 37% muscle invasive |
TP53 (17p13) | Deletion/mutation | 70% muscle invasive24–26 |
| | High grade and stage |
PTEN (10q23) | Homozygous deletion/mutation | 10q LOH in 35% muscle invasive27 28 |
| | 6.6% superficial |
PTCH (9q22) | Deletion/mutation | LOH 60% all grades/stages29 |
| | Mutation frequency low |
TSC1 (9q34) | Deletion/mutation | LOH 60% all grades/stages30 |
| | Mutation frequency low |
*DBCCR1 (9q32–33) | Deletion/methylation | LOH 60% all grades/stages31 32 |
*DCC/SMAD (18q) | Deletion | LOH 30% high grade/stage33 |
| | No mutation analysis to date |