Mutations present in cancer mucosa samples and frequencies of the same mutation appearing in adjacent nondysplastic mucosa of 11 patients with PSC-IBD.a
| Gene . | Mutation . | Cancer . | Adjacent mucosa . | Both cancer and mucosa . | Not present . |
|---|---|---|---|---|---|
| MPL | p.Arg102Pro | 0/11 | 0/11 | 1/11 | 10/11 |
| ATM | p.Ala220Val | 1/11 | 0/11 | 0/11 | 10/11 |
| p.Asp1853Val | 0/11 | 0/11 | 1/11 | 10/11 | |
| FLT3 | p.Ser102Phe | 0/11 | 0/11 | 1/11 | 10/11 |
| TP53 | p.Arg282Gln | 0/11 | 0/11 | 1/11 | 10/11 |
| p.Arg280Thr | 1/11 | 0/11 | 1/11 | 9/11 | |
| p.Arg273His | 1/11 | 0/11 | 0/11 | 10/11 | |
| p.Val272Met | 1/11 | 0/11 | 0/11 | 10/11 | |
| p.Glu271 | 1/11 | 0/11 | 0/11 | 10/11 | |
| p.Gly266Glu | 1/11 | 0/11 | 0/11 | 10/11 | |
| p.Arg248Gln | 3/11 | 0/11 | 0/11 | 8/11 | |
| p.Arg175His | 1/11 | 0/11 | 0/11 | 10/11 | |
| p.Trp146 | 0/11 | 1/11 | 0/11 | 10/11 | |
| ERBB2 | p.Ser310Phe | 1/11 | 0/11 | 0/11 | 10/11 |
| STK11 | p.Pro179Leu | 1/11 | 0/11 | 0/11 | 10/11 |
| ALK | p.Gly756Ser | 1/11 | 0/11 | 0/11 | 10/11 |
| IDH1 | p.Asp220Gly | 0/11 | 0/11 | 1/11 | 10/11 |
| GNAS | p.Pro22Leu | 1/11 | 0/11 | 0/11 | 10/11 |
| p.Glu192Asp | 1/11 | 0/11 | 0/11 | 10/11 | |
| MLH1 | p.Arg659Gln | 1/11 | 0/11 | 0/11 | 10/11 |
| CTNNB1 | p.Ile607Val | 0/11 | 0/11 | 1/11 | 10/11 |
| PIK3CA | p.Asp725Asn | 1/11 | 0/11 | 0/11 | 10/11 |
| PDGFRA | p.Thr200Ser | 0/11 | 0/11 | 1/11 | 10/11 |
| p.Arg293His | 0/11 | 0/11 | 1/11 | 10/11 | |
| KDR | p.Ser112Leu | 0/11 | 0/11 | 1/11 | 10/11 |
| FBXW7 | p.Arg465His | 1/11 | 0/11 | 1/11 | 9/11 |
| p.Thr385Ile | 0/11 | 1/11 | 0/11 | 10/11 | |
| p.Trp321Cys | 1/11 | 0/11 | 0/11 | 10/11 | |
| EGFR | p.Asn139Asp | 1/11 | 0/11 | 0/11 | 10/11 |
| CDKN2A | p.Arg128Gln | 1/11 | 0/11 | 0/11 | 10/11 |
| p.Arg58 | 1/11 | 0/11 | 0/11 | 10/11 | |
| NOTCH1 | p.Arg1350Leu | 0/11 | 0/11 | 1/11 | 10/11 |
| p.Arg621His | 0/11 | 0/11 | 1/11 | 10/11 |
| Gene . | Mutation . | Cancer . | Adjacent mucosa . | Both cancer and mucosa . | Not present . |
|---|---|---|---|---|---|
| MPL | p.Arg102Pro | 0/11 | 0/11 | 1/11 | 10/11 |
| ATM | p.Ala220Val | 1/11 | 0/11 | 0/11 | 10/11 |
| p.Asp1853Val | 0/11 | 0/11 | 1/11 | 10/11 | |
| FLT3 | p.Ser102Phe | 0/11 | 0/11 | 1/11 | 10/11 |
| TP53 | p.Arg282Gln | 0/11 | 0/11 | 1/11 | 10/11 |
| p.Arg280Thr | 1/11 | 0/11 | 1/11 | 9/11 | |
| p.Arg273His | 1/11 | 0/11 | 0/11 | 10/11 | |
| p.Val272Met | 1/11 | 0/11 | 0/11 | 10/11 | |
| p.Glu271 | 1/11 | 0/11 | 0/11 | 10/11 | |
| p.Gly266Glu | 1/11 | 0/11 | 0/11 | 10/11 | |
| p.Arg248Gln | 3/11 | 0/11 | 0/11 | 8/11 | |
| p.Arg175His | 1/11 | 0/11 | 0/11 | 10/11 | |
| p.Trp146 | 0/11 | 1/11 | 0/11 | 10/11 | |
| ERBB2 | p.Ser310Phe | 1/11 | 0/11 | 0/11 | 10/11 |
| STK11 | p.Pro179Leu | 1/11 | 0/11 | 0/11 | 10/11 |
| ALK | p.Gly756Ser | 1/11 | 0/11 | 0/11 | 10/11 |
| IDH1 | p.Asp220Gly | 0/11 | 0/11 | 1/11 | 10/11 |
| GNAS | p.Pro22Leu | 1/11 | 0/11 | 0/11 | 10/11 |
| p.Glu192Asp | 1/11 | 0/11 | 0/11 | 10/11 | |
| MLH1 | p.Arg659Gln | 1/11 | 0/11 | 0/11 | 10/11 |
| CTNNB1 | p.Ile607Val | 0/11 | 0/11 | 1/11 | 10/11 |
| PIK3CA | p.Asp725Asn | 1/11 | 0/11 | 0/11 | 10/11 |
| PDGFRA | p.Thr200Ser | 0/11 | 0/11 | 1/11 | 10/11 |
| p.Arg293His | 0/11 | 0/11 | 1/11 | 10/11 | |
| KDR | p.Ser112Leu | 0/11 | 0/11 | 1/11 | 10/11 |
| FBXW7 | p.Arg465His | 1/11 | 0/11 | 1/11 | 9/11 |
| p.Thr385Ile | 0/11 | 1/11 | 0/11 | 10/11 | |
| p.Trp321Cys | 1/11 | 0/11 | 0/11 | 10/11 | |
| EGFR | p.Asn139Asp | 1/11 | 0/11 | 0/11 | 10/11 |
| CDKN2A | p.Arg128Gln | 1/11 | 0/11 | 0/11 | 10/11 |
| p.Arg58 | 1/11 | 0/11 | 0/11 | 10/11 | |
| NOTCH1 | p.Arg1350Leu | 0/11 | 0/11 | 1/11 | 10/11 |
| p.Arg621His | 0/11 | 0/11 | 1/11 | 10/11 |
Abbreviation: PSC-IBD, concomitant primary sclerosing cholangitis and inflammatory bowel disease.
Mutations present in cancer mucosa samples and frequencies of the same mutation appearing in adjacent nondysplastic mucosa of 11 patients with PSC-IBD.a
| Gene . | Mutation . | Cancer . | Adjacent mucosa . | Both cancer and mucosa . | Not present . |
|---|---|---|---|---|---|
| MPL | p.Arg102Pro | 0/11 | 0/11 | 1/11 | 10/11 |
| ATM | p.Ala220Val | 1/11 | 0/11 | 0/11 | 10/11 |
| p.Asp1853Val | 0/11 | 0/11 | 1/11 | 10/11 | |
| FLT3 | p.Ser102Phe | 0/11 | 0/11 | 1/11 | 10/11 |
| TP53 | p.Arg282Gln | 0/11 | 0/11 | 1/11 | 10/11 |
| p.Arg280Thr | 1/11 | 0/11 | 1/11 | 9/11 | |
| p.Arg273His | 1/11 | 0/11 | 0/11 | 10/11 | |
| p.Val272Met | 1/11 | 0/11 | 0/11 | 10/11 | |
| p.Glu271 | 1/11 | 0/11 | 0/11 | 10/11 | |
| p.Gly266Glu | 1/11 | 0/11 | 0/11 | 10/11 | |
| p.Arg248Gln | 3/11 | 0/11 | 0/11 | 8/11 | |
| p.Arg175His | 1/11 | 0/11 | 0/11 | 10/11 | |
| p.Trp146 | 0/11 | 1/11 | 0/11 | 10/11 | |
| ERBB2 | p.Ser310Phe | 1/11 | 0/11 | 0/11 | 10/11 |
| STK11 | p.Pro179Leu | 1/11 | 0/11 | 0/11 | 10/11 |
| ALK | p.Gly756Ser | 1/11 | 0/11 | 0/11 | 10/11 |
| IDH1 | p.Asp220Gly | 0/11 | 0/11 | 1/11 | 10/11 |
| GNAS | p.Pro22Leu | 1/11 | 0/11 | 0/11 | 10/11 |
| p.Glu192Asp | 1/11 | 0/11 | 0/11 | 10/11 | |
| MLH1 | p.Arg659Gln | 1/11 | 0/11 | 0/11 | 10/11 |
| CTNNB1 | p.Ile607Val | 0/11 | 0/11 | 1/11 | 10/11 |
| PIK3CA | p.Asp725Asn | 1/11 | 0/11 | 0/11 | 10/11 |
| PDGFRA | p.Thr200Ser | 0/11 | 0/11 | 1/11 | 10/11 |
| p.Arg293His | 0/11 | 0/11 | 1/11 | 10/11 | |
| KDR | p.Ser112Leu | 0/11 | 0/11 | 1/11 | 10/11 |
| FBXW7 | p.Arg465His | 1/11 | 0/11 | 1/11 | 9/11 |
| p.Thr385Ile | 0/11 | 1/11 | 0/11 | 10/11 | |
| p.Trp321Cys | 1/11 | 0/11 | 0/11 | 10/11 | |
| EGFR | p.Asn139Asp | 1/11 | 0/11 | 0/11 | 10/11 |
| CDKN2A | p.Arg128Gln | 1/11 | 0/11 | 0/11 | 10/11 |
| p.Arg58 | 1/11 | 0/11 | 0/11 | 10/11 | |
| NOTCH1 | p.Arg1350Leu | 0/11 | 0/11 | 1/11 | 10/11 |
| p.Arg621His | 0/11 | 0/11 | 1/11 | 10/11 |
| Gene . | Mutation . | Cancer . | Adjacent mucosa . | Both cancer and mucosa . | Not present . |
|---|---|---|---|---|---|
| MPL | p.Arg102Pro | 0/11 | 0/11 | 1/11 | 10/11 |
| ATM | p.Ala220Val | 1/11 | 0/11 | 0/11 | 10/11 |
| p.Asp1853Val | 0/11 | 0/11 | 1/11 | 10/11 | |
| FLT3 | p.Ser102Phe | 0/11 | 0/11 | 1/11 | 10/11 |
| TP53 | p.Arg282Gln | 0/11 | 0/11 | 1/11 | 10/11 |
| p.Arg280Thr | 1/11 | 0/11 | 1/11 | 9/11 | |
| p.Arg273His | 1/11 | 0/11 | 0/11 | 10/11 | |
| p.Val272Met | 1/11 | 0/11 | 0/11 | 10/11 | |
| p.Glu271 | 1/11 | 0/11 | 0/11 | 10/11 | |
| p.Gly266Glu | 1/11 | 0/11 | 0/11 | 10/11 | |
| p.Arg248Gln | 3/11 | 0/11 | 0/11 | 8/11 | |
| p.Arg175His | 1/11 | 0/11 | 0/11 | 10/11 | |
| p.Trp146 | 0/11 | 1/11 | 0/11 | 10/11 | |
| ERBB2 | p.Ser310Phe | 1/11 | 0/11 | 0/11 | 10/11 |
| STK11 | p.Pro179Leu | 1/11 | 0/11 | 0/11 | 10/11 |
| ALK | p.Gly756Ser | 1/11 | 0/11 | 0/11 | 10/11 |
| IDH1 | p.Asp220Gly | 0/11 | 0/11 | 1/11 | 10/11 |
| GNAS | p.Pro22Leu | 1/11 | 0/11 | 0/11 | 10/11 |
| p.Glu192Asp | 1/11 | 0/11 | 0/11 | 10/11 | |
| MLH1 | p.Arg659Gln | 1/11 | 0/11 | 0/11 | 10/11 |
| CTNNB1 | p.Ile607Val | 0/11 | 0/11 | 1/11 | 10/11 |
| PIK3CA | p.Asp725Asn | 1/11 | 0/11 | 0/11 | 10/11 |
| PDGFRA | p.Thr200Ser | 0/11 | 0/11 | 1/11 | 10/11 |
| p.Arg293His | 0/11 | 0/11 | 1/11 | 10/11 | |
| KDR | p.Ser112Leu | 0/11 | 0/11 | 1/11 | 10/11 |
| FBXW7 | p.Arg465His | 1/11 | 0/11 | 1/11 | 9/11 |
| p.Thr385Ile | 0/11 | 1/11 | 0/11 | 10/11 | |
| p.Trp321Cys | 1/11 | 0/11 | 0/11 | 10/11 | |
| EGFR | p.Asn139Asp | 1/11 | 0/11 | 0/11 | 10/11 |
| CDKN2A | p.Arg128Gln | 1/11 | 0/11 | 0/11 | 10/11 |
| p.Arg58 | 1/11 | 0/11 | 0/11 | 10/11 | |
| NOTCH1 | p.Arg1350Leu | 0/11 | 0/11 | 1/11 | 10/11 |
| p.Arg621His | 0/11 | 0/11 | 1/11 | 10/11 |
Abbreviation: PSC-IBD, concomitant primary sclerosing cholangitis and inflammatory bowel disease.
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