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Table 4 Genetic alterations assessed through targeted NGS profiling in CRC primary tissues and relative PDCOs

From: Integrated multi-omics analyses on patient-derived CRC organoids highlight altered molecular pathways in colorectal cancer progression involving PTEN

Sample ID

Gene ID

Protein Change

VAF (%)

COSMIC Classification

P12T

primary tissue

PIK3CA

P449T

16

Pathogenic

APC

R876X

34

Pathogenic

APC

E1554X

28

Pathogenic

PTEN

F273X

7

Unknown

KRAS

G12V

26

Pathogenic

P12T

-W early

PIK3CA

P449T

38

Pathogenic

APC

R876X

50

Pathogenic

APC

E1554X

50

Pathogenic

PTEN

F273X

58

Unknown

PTEN

R335X

20

Pathogenic

KRAS

G12V

50

Pathogenic

P14T

primary tissue

PIK3CA

E545G

12

Pathogenic

APC

E1379X

22

Pathogenic

KRAS

G13C

12

Pathogenic

TP53

R196X

18

Pathogenic

P14T

-W early

PIK3CA

E545G

50

Pathogenic

APC

E1379X

100

Pathogenic

KRAS

G13C

50

Pathogenic

TP53

R196X

100

Pathogenic

  1. For every variant, we indicate the variant allele fraction (VAF) and the putative pathogenicity