Table 2.
#0054 | #0094 | #0122 | #0134 | #0152 | #0159 | |||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Gene | Base Change | AA Change | Prim | P1 | Prim | P1 | P2 | P3 | P4 | Prim | P1 | P2 | P3 | Prim | P1 | P2 | P3 | Prim | P1 | P2 | Prim | P1 | P2 | P3 |
APC | c.4326T > A | p.(=) | 0 | 0 | 51 | 45 | 45 | 45 | 46 | 0 | 0 | 0 | 48 | 48 | 45 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | ||
0 | 0 | 45 | 45 | |||||||||||||||||||||
APC | c.4479G > a | p.(=) | 0 | 0 | 100 | 100 | 100 | 100 | 100 | 49 | 52 | 50 | 100 | 99 | 100 | 100 | 100 | 100 | 0 | 0 | 0 | 0 | ||
50 | 51 | 100 | 100 | |||||||||||||||||||||
ATM | c.*29C > G | p.? | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 49 | 50 | 50 | 53 | ||||
0 | 0 | 0 | 0 | 0 | 0 | |||||||||||||||||||
ATM | c.5793T > C | p.(=) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 52 | 50 | 50 | 51 | ||||
0 | 0 | 0 | 0 | 0 | 0 | |||||||||||||||||||
BRAF | c.1789C > T | p.(=) | 47 | 52 | 51 | 49 | 47 | 0 | 0 | 0 | 51 | 48 | 49 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | ||||
0 | 0 | 0 | 0 | 46 | 50 | |||||||||||||||||||
CSF1R | c.*36CA > TC | p.? | 100 | 100 | 100 | 100 | 100 | 100 | 100 | 34 | 29 | 31 | 100 | 100 | 100 | 36 | 31 | 28 | 100 | 100 | 100 | 100 | ||
13 | 30 | 100 | 100 | |||||||||||||||||||||
EGFR | c.2361G > A | p.(=) | 51 | 51 | 100 | 100 | 100 | 100 | 100 | 53 | 44 | 52 | 100 | 100 | 100 | 100 | 100 | 100 | 51 | 49 | 49 | 48 | ||
48 | 47 | 100 | 100 | |||||||||||||||||||||
ERBB4 | c.421+58A > G | p.? | 59 | 59 | 0 | 0 | 0 | 0 | 0 | 100 | 100 | 100 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | ||
100 | 100 | 0 | 0 | |||||||||||||||||||||
ERBB4 | c.884-20T > C | p.? | 2 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | ||
0 | 0 | 0 | 0 | |||||||||||||||||||||
FBXW7 | c.1524A > G | p.(=) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 3 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | ||
0 | 0 | 0 | 0 | |||||||||||||||||||||
FGFR3 | c.1953G > A | p.(=) | 100 | 100 | 0 | 0 | 0 | 0 | 0 | 100 | 100 | 100 | 100 | 100 | 100 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | ||
100 | 100 | 100 | 100 | |||||||||||||||||||||
FGFR3 | c.1959+22G > A | p.? | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | ||
49 | 50 | 0 | 0 | |||||||||||||||||||||
FLT3 | c.1310-3T > C | p.? | 100 | 100 | 100 | 100 | 100 | 100 | 100 | 0 | 0 | 0 | 100 | 100 | 100 | 100 | 100 | 100 | 51 | 52 | 52 | 52 | ||
0 | 0 | 100 | 100 | |||||||||||||||||||||
FLT3 | c.1775T > C | p.Val592Ala | 0 | 0 | 44 | 50 | 51 | 51 | 49 | 0 | 0 | 0 | 51 | 52 | 49 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | ||
0 | 0 | 56 | 52 | |||||||||||||||||||||
FLT3 | c.2504A > T | p.As p835Val | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 3 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | ||
0 | 0 | 0 | 0 | |||||||||||||||||||||
HRAS | c.81T > C | p.(=) | 0 | 0 | 60 | 49 | 54 | 48 | 48 | 52 | 49 | 52 | 48 | 53 | 51 | 55 | 55 | 46 | 0 | 0 | 0 | 0 | ||
50 | 51 | 50 | 50 | |||||||||||||||||||||
IDH1 | c.315C > T | p.(=) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 51 | 53 | 53 | 52 | ||
0 | 0 | 0 | 0 | |||||||||||||||||||||
JAK3 | c.2164G > A | p.Val722le | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 51 | 49 | 49 | 52 | ||
0 | 0 | 0 | 0 | |||||||||||||||||||||
KDR | c.798+54G > A | p.? | 0 | 0 | 52 | 44 | 48 | 45 | 47 | 49 | 50 | 45 | 46 | 48 | 52 | 100 | 100 | 100 | 100 | 98 | 98 | 100 | ||
48 | 46 | 50 | 51 | |||||||||||||||||||||
KDR | c.4008C > T | p.(=) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 49 | 53 | 48 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | ||
49 | 48 | 0 | 0 | |||||||||||||||||||||
KIT | c.1638A > G | p.(=) | 51 | 50 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | ||
0 | 0 | 0 | 0 | |||||||||||||||||||||
KRAS | c.34G > A | p.Gly 12Ser | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 31 | 24 | 4 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | ||
6 | 7 | 0 | 0 | |||||||||||||||||||||
MET | c.3029C > T | p.Thr 1010lle | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 51 | 50 | 50 | 50 | ||
0 | 0 | 0 | 0 | |||||||||||||||||||||
NRAS | c.183A > C | p.Gln61His | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 6 | 0 | 0 | 0 | ||
0 | 0 | 0 | 0 | |||||||||||||||||||||
PDGFRA | c.1701A > G | p.(=) | 100 | 100 | 100 | 100 | 100 | 100 | 100 | 100 | 100 | 100 | 100 | 100 | 100 | 100 | 100 | 100 | 100 | 100 | 100 | 100 | ||
100 | 100 | 100 | 100 | |||||||||||||||||||||
PDGFRA | c.2472C > T | p.(=) | 49 | 47 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | ||
0 | 0 | 0 | 0 | |||||||||||||||||||||
PIK3CA | c.352+40A > G | p.? | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 51 | 53 | 53 | 51 | ||
0 | 0 | 0 | 0 | |||||||||||||||||||||
PIK3CA | c.1636C > A | p.Gln546Lys | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 4 | 0 | 0 | 0 | ||
0 | 0 | 0 | 0 | |||||||||||||||||||||
PIK3CA | c.3075C > T | p.(=) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 51 | 50 | 50 | 52 | ||
0 | 0 | 0 | 0 | |||||||||||||||||||||
RET | c.2307G > T | p.(=) | 48 | 51 | 54 | 49 | 52 | 54 | 50 | 0 | 0 | 0 | 51 | 50 | 54 | 54 | 50 | 49 | 100 | 100 | 100 | 100 | ||
0 | 0 | 51 | 52 | |||||||||||||||||||||
RET | c.2712C > G | p.(=) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 51 | 50 | 50 | 51 | 47 | 47 | 49 | ||
0 | 0 | 0 | 0 | |||||||||||||||||||||
SMAD4 | c.955+58C > T | p.? | 54 | 49 | 48 | 51 | 54 | 54 | 56 | 0 | 0 | 0 | 53 | 53 | 48 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | ||
0 | 0 | 51 | 48 | |||||||||||||||||||||
STK11 | c.126G > C | p.(=) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 5 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | ||
0 | 0 | 0 | 0 | |||||||||||||||||||||
STK11 | c.465-51T > C | p.? | 100 | 100 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 100 | 100 | 100 | 100 | ||
0 | 0 | 0 | 0 | |||||||||||||||||||||
TP53 | c.215C > G | p.Pro72Arg | 99 | 100 | 94 | 49 | 49 | 50 | 50 | 100 | 100 | 100 | 52 | 53 | 53 | 100 | 100 | 99 | 56 | 52 | 52 | 49 | ||
98 | 99 | 51 | 61 | |||||||||||||||||||||
TP53 | c.847C > A | p.Arg283Ser | 0 | 0 | 86 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | ||
0 | 0 | 0 | 0 |
All variants detected are summarized irrespectively of their pathogenicity. Numbers indicate the allele frequency (%). AA, amino acid; p.(=), no change in protein translation; p.?, extraexonic variant; Prim, primary tumor; P, passage. The color of the boxes indicates the allele frequency, with low frequencies displayed in red and high frequencies in blue shade. For patients #0122 and #0134, two individual mice were analyzed in passage 2. The allele frequencies of these animals are listed on top of each other. The cells of the second (lower) mouse were used for xenotransplantation and the generation of passage 3.