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Table 1 Next generation sequencing (NGS) performed on tumor tissue collected from primary tumor biopsy at the initial diagnosis of ampullary adenocarcinoma. The NGS analysis was performed by FoundationOne CDx within the GO40782 clinical trial. Variant allele frequency (VAF) data were made available only for BRCA2 and FANCA genes upon clinical specific request to guide germline assessment in the context of patient’s genetic counseling

From: Multimodal treatment with curative intent in a germline BRCA2 mutant metastatic ampullary adenocarcinoma: a case report

Gene

Alterations

VAF

Genomic alterations identified

 BRCA2

W1692fs*3

44%

 FANCA

Q13fs*31

3%

 TP53

F328fs*6

NA

 APC

S1545*

NA

 NOTCH1

W2034_A2035 > C

NA

 NOTCH1

A2031fs*7

NA

Variant of unknown significance identified

 TNFAIP3

M112V

NA

 DOT1L

F1474L

NA

 PIK3R1

V718_A720del

NA

 ERCC4

R477Q

NA

 DDR1

E85_Q88del

NA

 KDM5A

R1506Q

NA

 AR

K809T

NA

 IDH2

S10L

NA

Advanced genomic analysis

 TMB

11.35 mut/Mb

NE

 Microsatellite status

NE

NE

  1. NA Not available, NE Not evaluable, TMB Tumor mutational burden, VAF Variant allele frequency