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Table 2 Mutations with exceptional high allele frequency

From: Integrating cfDNA liquid biopsy and organoid-based drug screening reveals PI3K signaling as a promising therapeutic target in colorectal cancer

ID

Gender/Age

Location

Stage

Metastasis

DNA

Protein

dbSNP

AF (%)

C004

M/73

Sigmoid

IV (cT4N2M1)

Liver

chr18:48591904 C > T

SMAD4 p.P356L

 

11.61

C025

M/69

Sigmoid

IV (pT4N2bM1)

Peritoneal cavity

chr17:7577548 C > T

TP53 p.G245S

rs28934575

52.92

C025

M/69

Sigmoid

IV (pT4N2bM1)

Peritoneal cavity

chr12:25398284 C > G

KRAS p.G12A

rs121913529

34.94

C031

F/55

Rectum

IV (pT4aN0M1)

Lung

chr12:25398284 C > G

KRAS p.G12R

rs121913529

12.38

C040

M/68

Sigmoid-Rectum

IV (cT4aNxM1)

Lung

chr17:7578406 C > T

TP53 p.R175H

rs28934578

56.86

C048

M/52

Sigmoid

IV (cTxNxM1)

Liver

chr12:25398284 C > G

KRAS p.G12R

rs121913529

11.37

C065

F/75

Rectum

I (pT1NxM0)

 

chr12:25398284 C > T

KRAS p.G12S

rs121913529

21.37

C088

M/60

Sigmoid-Rectum

IV (cTxNxM1)

Liver

chr17:7577539 G > A

TP53 p.R248W

rs121912651

83.42