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Table 1 Molecular profiling results from FoundationOne™ testing. 73 deleterious mutations were identified among 62 genes known drivers of cancer. Additional 340 variants of unknown significance [VUS] abnormalities were identified among 166 genes (not shown). Four mutations were identified in mismatch repair genes MSH2 and MSH6

From: Mismatch repair deficiency associated with complete remission to combination programmed cell death ligand immune therapy in a patient with sporadic urothelial carcinoma: immunotheranostic considerations

ERBB4

R842Q

TP53

P222L, R175C, R282W

MSH6

R361H

FBXW7

R689Q

APC

R856C

MSH2

A913fs*2,E580* E226*

FGFR3

R248C

AR

R616H

  

JAK2

D319N

ARID1A

R1989*

MYST3

R79Q

KRAS

A18T

ARID2

L390fs*1, Q819*, R1677*

NOTCH2

R2036*

NF2

R424C

ATRX

R2131, 6849 + 2 T > C

POLE

V411L

PTCH1

R135*

CHEK2

W97*

PRDM1

A5O2T

ROS1

A114OT

CIC

R1515H

PREX2

R1149H

TET2

E149*

CTCF

R11W

SLIT2

C1022*, R942*,2417+ 2 T>C

ATM

R1875*

CUL3

R148*

  

ATR

R1082H

EPHB1

G642D

SMAD4

R361H

CDKN2A

p16INK4a, A68T, p14ARF l

FAT1

S4314fsa6

SMARCA4

R1093a

CHEK1

R160H

FLT3

485-1G > A

SPEN

R2081a

CREBBP

R2344W

GRIN2A

E1461K, R1206a

SPTA1

R374Q

EP300

R838C

HNF1A

S574N

TAF1

R1172a

FANCA

T1161M

KDM6A

R1279a

TGFBR2

R528C

NTRK1

R649W

MLL2

R4238C, R4904a

WT1

T358M