Table 2 |
||||||||
|
Point mutations identified in the cancer mini-exome of patients 1 to 4 |
||||||||
|
Patient 1 |
Patient 2 |
Patient 3 |
Patient 4 |
|||||
|
|
||||||||
|
Gene |
TC |
LM |
TC |
LM |
TC |
LM |
TC |
LM |
|
|
||||||||
|
APC |
5:112175523 T/- |
5:112175523 T/- |
E1536* (5:1121758970) |
E1536* (5:1121758970) |
Y1376* (5:112175419) |
Y1376* (5:112175419) |
5:112128152 C/- |
R499* (5:112162891) |
|
R876* (5:112173917) |
R876* (5:112173917) |
|||||||
|
DDR2 |
H340D (1:162731163) |
|||||||
|
KRAS |
G12A (12:25398284) |
G12A (12:25398284) |
G12A (12:25398284) |
|||||
|
PTPRF |
D562G (1:44058144) |
D562G (1:44058144) |
||||||
|
SMAD2 |
R321* (18:45374882) |
|||||||
|
SMAD4 |
L495P (18:48604662) |
|||||||
|
TP53 |
R273C (17:7577121) |
R273C (17:7577121) |
R175H (17:7578406) |
C275W (17:7577113) |
||||
|
MLL3 |
I155T (7:152012349) |
I155T (7:152012349) |
||||||
|
PARP14 |
Q1332P (3:122437236) |
Q1332P (3:122437236) |
||||||
|
PIK3CA |
E545K (3: 178936091) |
E545K (3: 178936091) |
E545K (3: 178936091) |
|||||
|
KDR |
R1032* (4:55956221) |
|||||||
|
PRKCD |
T419I (3:53220352) |
|||||||
|
RFC1 |
4:39290432 T/C |
|||||||
|
EXOC4 |
K765R (7:133682332) |
|||||||
|
TSC1 |
R288C (9:135787720) |
|||||||
|
FGFR2 |
R399* (10:123274723) |
R399* (10:123274723) |
||||||
|
NUP98 |
H1647D (11:3704460) |
H1647D (11:3704460) |
||||||
|
ERBB3 |
V104M (12:56478854) |
V104M (12:56478854) |
||||||
|
RASA3 |
V117M (13:114806499) |
|||||||
|
DNAH9 |
R4106H (17:11837216) |
|||||||
|
TAOK1 |
K484M (17:27835026) |
K484M (17:27835026) |
||||||
|
ATRX |
X:76845412 +A |
|||||||
|
TTN |
K13350N (2:179445230) |
H8533Y (2:179571272) |
||||||
|
E4246K (2:179604510) |
||||||||
|
EPHA4 |
2:222298957 +T |
|||||||
|
|
||||||||
|
TC, colon tumor; LM, liver metastasis. Genomic coordinates are based on the hg19 genome build. |
||||||||
|
Kloosterman et al. Genome Biology 2011 12:R103 doi:10.1186/gb-2011-12-10-r103 |
||||||||
