Table 2.

Genes mutated in 19 PSC-IBD-CRC.a

GeneMutations, nMutated samples, n (%)Mutations in COSMIC Cancer Gene CensusMutations in OncoKB
TP531013 (68)10/10 pathogenic6/10 likely oncogenic, 2/10 oncogenic
NOTCH134 (21)--
ATM33 (16)2/3 pathogenic, 1/3 SNP-
FBXW723 (16)1/2 pathogenic1/2 likely oncogenic
ERBB222 (11)2/2 pathogenic1/2 oncogenic
PIK3CA22 (11)2/2 pathogenic1/2 oncogenic
PDGFRA22 (11)--
KDR22 (11)1/2 pathogenic-
CDKN2A22 (11)2/2 neutral-
MPL11 (5)--
KRAS11 (5)1/1 pathogenic1/1 oncogenic
FLT311 (5)1/1 pathogenic-
CDH111 (5)--
SMAD411 (5)1/1 pathogenic-
STK1111 (5)1/1 pathogenic-
ALK11 (5)--
IDH111 (5)--
GNAS31 (5)--
MLH111 (5)--
CTNNB111 (5)--
APC11 (5)--
CSF1R11 (5)--
EGFR11 (5)1/1 pathogenic-
JAK221 (5)1/1 pathogenic-
GeneMutations, nMutated samples, n (%)Mutations in COSMIC Cancer Gene CensusMutations in OncoKB
TP531013 (68)10/10 pathogenic6/10 likely oncogenic, 2/10 oncogenic
NOTCH134 (21)--
ATM33 (16)2/3 pathogenic, 1/3 SNP-
FBXW723 (16)1/2 pathogenic1/2 likely oncogenic
ERBB222 (11)2/2 pathogenic1/2 oncogenic
PIK3CA22 (11)2/2 pathogenic1/2 oncogenic
PDGFRA22 (11)--
KDR22 (11)1/2 pathogenic-
CDKN2A22 (11)2/2 neutral-
MPL11 (5)--
KRAS11 (5)1/1 pathogenic1/1 oncogenic
FLT311 (5)1/1 pathogenic-
CDH111 (5)--
SMAD411 (5)1/1 pathogenic-
STK1111 (5)1/1 pathogenic-
ALK11 (5)--
IDH111 (5)--
GNAS31 (5)--
MLH111 (5)--
CTNNB111 (5)--
APC11 (5)--
CSF1R11 (5)--
EGFR11 (5)1/1 pathogenic-
JAK221 (5)1/1 pathogenic-

A hyphen (-) indicates that the value is not present in the database. Abbreviations: COSMIC, catalogue of somatic mutations in cancer; PSC-IBD-CRC, colorectal cancer associated with primary sclerosing cholangitis and inflammatory bowel disease; SNP, single nucleotide polymorphism.

Table 2.

Genes mutated in 19 PSC-IBD-CRC.a

GeneMutations, nMutated samples, n (%)Mutations in COSMIC Cancer Gene CensusMutations in OncoKB
TP531013 (68)10/10 pathogenic6/10 likely oncogenic, 2/10 oncogenic
NOTCH134 (21)--
ATM33 (16)2/3 pathogenic, 1/3 SNP-
FBXW723 (16)1/2 pathogenic1/2 likely oncogenic
ERBB222 (11)2/2 pathogenic1/2 oncogenic
PIK3CA22 (11)2/2 pathogenic1/2 oncogenic
PDGFRA22 (11)--
KDR22 (11)1/2 pathogenic-
CDKN2A22 (11)2/2 neutral-
MPL11 (5)--
KRAS11 (5)1/1 pathogenic1/1 oncogenic
FLT311 (5)1/1 pathogenic-
CDH111 (5)--
SMAD411 (5)1/1 pathogenic-
STK1111 (5)1/1 pathogenic-
ALK11 (5)--
IDH111 (5)--
GNAS31 (5)--
MLH111 (5)--
CTNNB111 (5)--
APC11 (5)--
CSF1R11 (5)--
EGFR11 (5)1/1 pathogenic-
JAK221 (5)1/1 pathogenic-
GeneMutations, nMutated samples, n (%)Mutations in COSMIC Cancer Gene CensusMutations in OncoKB
TP531013 (68)10/10 pathogenic6/10 likely oncogenic, 2/10 oncogenic
NOTCH134 (21)--
ATM33 (16)2/3 pathogenic, 1/3 SNP-
FBXW723 (16)1/2 pathogenic1/2 likely oncogenic
ERBB222 (11)2/2 pathogenic1/2 oncogenic
PIK3CA22 (11)2/2 pathogenic1/2 oncogenic
PDGFRA22 (11)--
KDR22 (11)1/2 pathogenic-
CDKN2A22 (11)2/2 neutral-
MPL11 (5)--
KRAS11 (5)1/1 pathogenic1/1 oncogenic
FLT311 (5)1/1 pathogenic-
CDH111 (5)--
SMAD411 (5)1/1 pathogenic-
STK1111 (5)1/1 pathogenic-
ALK11 (5)--
IDH111 (5)--
GNAS31 (5)--
MLH111 (5)--
CTNNB111 (5)--
APC11 (5)--
CSF1R11 (5)--
EGFR11 (5)1/1 pathogenic-
JAK221 (5)1/1 pathogenic-

A hyphen (-) indicates that the value is not present in the database. Abbreviations: COSMIC, catalogue of somatic mutations in cancer; PSC-IBD-CRC, colorectal cancer associated with primary sclerosing cholangitis and inflammatory bowel disease; SNP, single nucleotide polymorphism.

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