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Table 1 Results of histopathology and targeted molecular profiling of the eleven polyps

From: Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS)

Tumour ID

Localization

Size (mm)

Histopathological feature

TruSight® Tumor 15 Sequencing

TruSight® mutant allele frequency (%)

Exome Sequencing

WES mutant allele frequency (%)

Validation by SS

T69

Caecum

5

hyperplastic polyp

KRAS p.G12D

21

KRAS p.G12D

8

confirmed

T70

ascending colon

7

hyperplastic polyp

BRAF p.V600E

26

BRAF p.V600E

17

confirmed

T71

ascending colon

7

hyperplastic polyp

BRAF p.V600E

28

BRAF p.V600E

12

confirmed

T72

ascending colon

8

hyperplastic polyp

BRAF p.V600E

17

BRAF p.V600E

14

confirmed

T73

ascending colon

6

hyperplastic polyp

–

–

–

–

–

T74

transverse colon

10

sessile serrated polyp

BRAF p.V600E

13

BRAF p.V600E

10

confirmed

T76

transverse colon

11

sessile serrated polyp

BRAF p.V600E

21

BRAF p.V600E

11

confirmed

T77

descending colon

8

hyperplastic polyp

–

–

–

–

–

T78

descending colon

4

hyperplastic polyp

–

–

–

–

–

T79

descending colon

4

hyperplastic polyp

–

–

–

–

–

T80

descending colon

13

hyperplastic polyp

–

–

–

–

–

  1. SS sanger sequencing, WES whole exome sequencing