Introduction
Results
Mutations in trastuzumab-resistant Her2-positive metastatic breast cancer
Gene: mutation | # of patients |
---|---|
ABL1: MUT = Y253H | 1 |
APC: MUT = Q1294X | 1 |
APC: MUT = R1114X | 1 |
ATM: MUT = Q2442P | 1 |
BRAF: MUT = G469E | 1 |
BRAF: MUT = I326T | 2 |
BRCA1: MUT = G778C | 2 |
BRCA1: MUT = W372X | 1 |
CSF1R: MUT = Y969H | 1 |
CTNNB1: MUT = D32N | 1 |
CTNNB1: MUT = S45P | 1 |
EGFR: MUT = R108K | 2 |
EGFR: MUT = R677H | 1 |
ERBB2: MUT = L755S | 1 |
FBXW7: MUT = R393X | 1 |
HRAS: MUT = Q61P | 1 |
KIT: MUT = E839K | 2 |
KIT: MUT = V825A | 1 |
KRAS: MUT = Q61K | 2 |
MAP2K4: MUT = S184L | 1 |
MET: MUT = 982 complex variant | 1 |
MET: MUT = R988C | 1 |
MSH2: MUT = R711X | 1 |
NF1: MUT = R304X | 1 |
NF2: MUT = Q362X | 2 |
NF2: MUT = R262X | 1 |
PIK3CA: MUT = C901F | 2 |
PIK3CA: MUT = E542K | 2 |
PIK3CA: MUT = E545K | 4 |
PIK3CA: MUT = H1047R | 5 |
PIK3CA: MUT = R108H | 2 |
PIK3CA: MUT = R38H | 1 |
PTEN: MUT = C165 | 1 |
SMAD4: MUT = E330A | 1 |
SMAD4: MUT = R445X | 1 |
SMARCB1: MUT = R158X | 1 |
SMARCB1: MUT = Y47X | 1 |
SMO: MUT = W535L | 2 |
WT1: MUT = F154S | 1 |
WT1: MUT = R301X | 1 |
TCGA: Her2− only (n = 985) | TCGA: Her2 + only (n = 120) | JCO 2011 (n = 22) | |
---|---|---|---|
PIK3CA
| 303 (30.8%) | 37 (30.8%) | 10 (45.4%) |
TP53
| 290 (29.4%) | 56 (46.7%) | n/a |
PTEN
| 50 (5.1%) | 4 (3.3%) | 1 (4.5%) |
MAP2K4
| 32 (3.2%) | 2 (1.7%) | 1 (4.5%) |
NF1
| 29 (2.9%) | 4 (3.3%) | 1 (4.5%) |
BRCA1
| 23 (2.3%) | 1 (0.8%) | 3 (13.6%) |
ATM
| 22 (2.2%) | 3 (2.5%) | 1 (4.5%) |
ERBB2
| 21 (2.1%) | 4 (3.3%) | 1 (4.5%) |
APC
| 14 (1.4%) | 2 (1.7%) | 2 (9.0%) |
FBXW7
| 14 (1.4%) | 1 (0.8%) | 1 (4.5%) |
ABL1
| 7 (0.7%) | 2 (1.7%) | 1 (4.5%) |
EGFR
| 7 (0.7%) | 1 (0.8%) | 3 (13.6%) |
KIT
| 7 (0.7%) | 1 (0.8%) | 3 (13.6%) |
KRAS
| 7 (0.7%) | 0 (0.0%) | 2 (9.0%) |
MET
| 7 (0.7%) | 2 (1.7%) | 2 (9.0%) |
MSH2
| 6 (0.6%) | 2 (1.7%) | 1 (4.5%) |
SMAD4
| 6 (0.6%) | 2 (1.7%) | 2 (9.0%) |
NF2
| 4 (0.4%) | 0 (0.0%) | 2 (9.0%) |
SMARCB1
| 4 (0.4%) | 0 (0.0%) | 2 (9.0%) |
SMO
| 4 (0.4%) | 1 (0.8%) | 2 (9.0%) |
HRAS
| 3 (0.3%) | 0 (0.0%) | 1 (4.5%) |
BRAF
| 2 (0.2%) | 3 (2.5%) | 3 (13.6%) |
CSF1R
| 2 (0.2%) | 2 (1.7%) | 1 (4.5%) |
CTNNB1
| 2 (0.2%) | 0 (0.0%) | 2 (9.0%) |
WT1
| 2 (0.2%) | 1 (0.8%) | 2 (9.0%) |
Tag number | Assay external id |
---|---|
tag100124 | TP53_pR342X_c1024C_T |
tag100067 | TP53_pE336X_c1006G_T |
tag110908 | TP53_pQ331X_c991C_T |
tag110798 | TP53_p_c920_minus_1G_A |
tag100123 | TP53_pR306X_c916C_T |
tag100066 | TP53_pE298X_c892G_T |
tag100122 | TP53_pE285K_c853G_A |
tag100169 | TP53_pR273H_c818G_A |
tag100168 | TP53_pR273C_c817C_T |
tag100544 | TP53_pG266E_c797G_A |
tag110665 | TP53_p_c782_plus_1G_T |
tag100167 | TP53_pR249S_c747G_T |
amp904 | TP53_pR248Q_c743G_A |
amp905 | TP53_pR248W_c742C_T |
amp894 | TP53_pG245S_c733G_A |
tag100959 | TP53_pY236C_c707A_G |
tag100120 | TP53_p_c672_plus_1G_A |
amp913 | TP53_pY220C_c659A_G |
tag101899 | TP53_pR213X_c637C_T |
amp902 | TP53_pR196X_c586C_T |
tag100165 | TP53_pH193R_c578A_G |
tag100069 | TP53_pH179Q_c537T_G |
tag100070 | TP53_pH179R_c536A_G |
tag100065 | TP53_pC176F_c527G_T |
tag100072 | TP53_pR175H_c524G_A |
tag100076 | TP53_pY163C_c488A_G |
amp888 | TP53_pA159V_c476C_T |
tag100071 | TP53_pR158H_c473G_A |
tag100075 | TP53_pV157F_c469G_T |
amp889 | TP53_pC135F_c404G_T |
tag100166 | TP53_pK132Q_c394A_C |
tag100164 | TP53_p_c376_minus_1G_A |
tag110632 | TP53_pC124R_c370T_C |
tag110809 | TP53_pF113C_c338T_G |
a. TCGA Her2- vs TCGA Her2+ | b. TCGA Her2 + vs JCO 2011 | c. JCO 2011 versus TCGA | |||
---|---|---|---|---|---|
Gene |
P value | Gene |
P value | Gene |
P value |
ABL1 | 0.3386 | ABL1 | 0.3989 | ABL1 | 0.1625 |
APC | 0.6896 | APC | 0.1134 | APC | 0.0454 |
ATM | 0.7470 | ATM | 0.4940 | ATM | 0.4018 |
BRAF | 0.0106 | BRAF | 0.0477 | BRAF | <0.0001
|
BRCA1 | 0.5041 | BRCA1 | 0.0118 | BRCA1 | 0.0170 |
CSF1R | 0.0606 | CSF1R | 0.3989 | CSF1R | 0.0642 |
CTNNB1 | 1.0000 | CTNNB1 | 0.0231 | CTNNB1 | 0.0027 |
EGFR | 0.6026 | EGFR | 0.0118 | EGFR |
0.0010
|
ERBB2 | 0.3388 | ERBB2 | 0.5747 | ERBB2 | 0.3881 |
FBXW7 | 1.0000 | FBXW7 | 0.2868 | FBXW7 | 0.2837 |
HRAS | 1.0000 | HRAS | 0.1549 | HRAS | 0.0847 |
KIT | 0.6026 | KIT | 0.0118 | KIT |
0.0010
|
KRAS | 1.0000 | KRAS | 0.0231 | KRAS | 0.0150 |
MAP2K4 | 0.5721 | MAP2K4 | 0.3989 | MAP2K4 | 0.5233 |
MET | 0.2548 | MET | 0.1134 | MET | 0.0150 |
MSH2 | 0.2125 | MSH2 | 0.3989 | MSH2 | 0.1437 |
NF1 | 0.7754 | NF1 | 0.5747 | NF1 | 0.4896 |
NF2 | 1.0000 | NF2 | 0.0231 | NF2 | 0.0065 |
PIK3CA | 1.0000 | PIK3CA | 0.2194 | PIK3CA | 0.1631 |
PTEN | 0.5062 | PTEN | 0.5747 | PTEN | 1.0000 |
SMAD4 | 0.2125 | SMAD4 | 0.1134 | SMAD4 | 0.0118 |
SMARCB1 | 1.0000 | SMARCB1 | 0.0231 | SMARCB1 | 0.0065 |
SMO | 0.4378 | SMO | 0.0626 | SMO | 0.0065 |
TP53 |
0.0002
| TP53 | n/a | TP53 | n/a |
WT1 | 0.2919 | WT1 | 0.0626 | WT1 | 0.0027 |