Gene (Cytogenetic Location) |
Alteration |
Frequency (%) |
Oncogenes |
HRAS (11p15)/NRAS (1p13)/KRAS2 (12p12) |
Activating mutations |
4-1515,27,28,32,221 |
FGFR3 (4p16) |
Activating mutations |
0-203,6,28,222,233 |
ERBB2 (17q) |
Amplification/overexpression |
10-14 amplification
10-50 overexpression64-66 |
CCND1 (11q13) |
Amplification/overexpression |
10-20 amplification223,224,234 |
MDM2 (12q13) |
Amplification/overexpression |
4-11 amplification85,235,236 |
E2F3 (6p22) |
Amplification/overexpression |
9-11 amplification in ≥T189,91 |
Tumor Suppressor Genes |
CDKN2A (9p21) |
Homozygous deletion/mutation/methylation |
HD 20-3040-42,228
LOH ˜60229 |
PTCH (9q22) |
Deletion/mutation |
LOH ˜60; mutation frequency low43,44 |
TSC1 (9q34) |
Deletion/mutation |
LOH ˜60; mutation ˜1226,27,48,230 |
STAG2 (Xq25) |
Deletion/mutation/methylation |
9-1331-34 |
TP53 (17p13) |
Deletion/mutation Mutation |
50-70237-239 |
RB1 (13q14) |
Deletion/mutation LOH or loss of expression |
3796,99 |
PTEN (10q23) |
Deletion/mutation |
LOH 30-35106-109; mutation 17111 |
ARID1A |
Mutation |
˜1032,240 |
KDM6A |
Mutation |
11-1531,32 |
CREBBP |
Mutation |
10-1531,32 |
EP300 |
Mutation |
6-831,32 |
DNA Copy Number Changesa |
2q, 3p, 3q, 4p, 4q, 5q, 6p, 6q, 8p, 9p, 9q, 10p, 10q, 11p, 11q, 12q, 13q, 14q, 15q, 16p, 16q, 17p, 18q, 19p, 19q, 22q |
Deletion |
>1557,135,231,232 |
1p, 1q, 2p, 2q, 3p, 3q, 4p, 4q, 5p, 5q, 6p, 7p, 7q, 8p, 8q, 9p, 10p, 10q, 11q, 12p, 12q, 13q, 14q, 15q, 16p, 16q, 17p, 17q, 18p, 19p, 19q, 20p, 20q, 21q, 22q |
Gain |
>1557,135,231,232 |
1q23, 3p25 (including RAF1, PPARG), 6p22 (including E2F3, SOX4), 8p12-p11.2 (including FGFR1, TACC1, POLB), 8q24 (including MYC), 8q22 (including YWHAZ), 11q13 (including CCND1), 12q15 (including MDM2), 17q12-q21 (including ERBB2), 20q12-q13.2 (including YWHAB, MYBL2), 20q13.32-q13.33 |
Amplification |
3-12 57,232 |
a Array-based comparative genomic hybridization analyses.HD, homozygous deletion; LOH, loss of heterozygosity. | |