PubMed:18206535
Annnotations
PubMed_ArguminSci
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 134-303 | DRI_Background | denotes | In hereditary nonpolyposis colorectal cancer (HNPCC), patients' mismatch repair (MMR) gene mutations cause MMR deficiency, leading to microsatellite instability (MSI-H). |
| T2 | 304-494 | DRI_Background | denotes | MSI-H is also found in a substantial fraction of sporadic gastric carcinomas (SGC), mainly due to MLH1 promoter hypermethylation, although somatic mutations in MMR genes have been described. |
| T3 | 495-556 | DRI_Approach | denotes | We aimed to investigate which MMR defects are present in SGC. |
| T4 | 557-768 | DRI_Background | denotes | Twenty-nine MSI-H SGC investigated previously for MLH1 promoter hypermethylation were screened for somatic mutations in MLH1, MSH2, MSH6, MLH3, and MBD4 by denaturing gradient gel electrophoresis and sequencing. |
| T5 | 769-890 | DRI_Background | denotes | Five truncating mutations (three in MSH6, one in MLH3, and one in MBD4) and one missense mutation (MLH1) were identified. |
| T6 | 891-980 | DRI_Background | denotes | Of these, three truncating mutations were in MSI-H cases that lack MLH1 hypermethylation. |
| T7 | 981-1126 | DRI_Outcome | denotes | As all truncating mutations were found in the coding poly-A tracts, it seems likely that they result from the MSI phenotype rather than cause it. |
| T8 | 1127-1292 | DRI_Background | denotes | In summary, somatic mutations in MMR genes are rare in SGC and do not explain the development of these tumors reflecting, rather than causing, the mutator phenotype. |
| T9 | 1293-1385 | DRI_Background | denotes | Other MMR genes are probably involved in MSI-H gastric cancer without MLH1 hypermethylation. |
c_corpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 21-36 | GO:0006298 | denotes | mismatch repair |
| T2 | 63-73 | D002277 | denotes | carcinomas |
| T3 | 63-73 | D002277 | denotes | carcinomas |
| T7 | 137-178 | D003123 | denotes | hereditary nonpolyposis colorectal cancer |
| T8 | 137-178 | D003123 | denotes | hereditary nonpolyposis colorectal cancer |
| T11 | 198-213 | GO:0006298 | denotes | mismatch repair |
| T14 | 215-218 | P22897 | denotes | MMR |
| T15 | 215-218 | PR:000002972 | denotes | MMR |
| T16 | 215-218 | Q61830 | denotes | MMR |
| T13 | 215-218 | CVCL_E779 | denotes | MMR |
| T12 | 215-218 | GO:0006298 | denotes | MMR |
| T17 | 220-224 | SO:0000704 | denotes | gene |
| T20 | 241-244 | P22897 | denotes | MMR |
| T21 | 241-244 | PR:000002972 | denotes | MMR |
| T22 | 241-244 | Q61830 | denotes | MMR |
| T19 | 241-244 | CVCL_E779 | denotes | MMR |
| T18 | 241-244 | GO:0006298 | denotes | MMR |
| T23 | 241-255 | C536928 | denotes | MMR deficiency |
| T24 | 241-255 | C536928 | denotes | MMR deficiency |
| T25 | 245-255 | SO:1000029 | denotes | deficiency |
| T26 | 268-282 | SO:0000289 | denotes | microsatellite |
| T27 | 268-294 | D053842 | denotes | microsatellite instability |
| T28 | 268-294 | D053842 | denotes | microsatellite instability |
| T29 | 296-299 | PR:000006870 | denotes | MSI |
| T30 | 296-299 | PR:P70245 | denotes | MSI |
| T31 | 304-307 | PR:000006870 | denotes | MSI |
| T32 | 304-307 | PR:P70245 | denotes | MSI |
| T33 | 370-380 | D002277 | denotes | carcinomas |
| T34 | 370-380 | D002277 | denotes | carcinomas |
| T35 | 382-385 | PR:Q9M345 | denotes | SGC |
| T36 | 402-406 | PR:Q9ZRV4 | denotes | MLH1 |
| T37 | 402-406 | PR:P38920 | denotes | MLH1 |
| T38 | 402-406 | PR:Q54KD8 | denotes | MLH1 |
| T40 | 402-406 | PR:Q9JK91 | denotes | MLH1 |
| T41 | 402-406 | PR:P97679 | denotes | MLH1 |
| T42 | 402-406 | PR:Q9P7W6 | denotes | MLH1 |
| T43 | 402-406 | PR:000010442 | denotes | MLH1 |
| T44 | 402-406 | PR:P40692 | denotes | MLH1 |
| T39 | 402-406 | CVCL_G669 | denotes | MLH1 |
| T45 | 407-415 | SO:0000167 | denotes | promoter |
| T48 | 464-467 | P22897 | denotes | MMR |
| T49 | 464-467 | PR:000002972 | denotes | MMR |
| T50 | 464-467 | Q61830 | denotes | MMR |
| T47 | 464-467 | CVCL_E779 | denotes | MMR |
| T46 | 464-467 | GO:0006298 | denotes | MMR |
| T53 | 525-528 | P22897 | denotes | MMR |
| T54 | 525-528 | PR:000002972 | denotes | MMR |
| T55 | 525-528 | Q61830 | denotes | MMR |
| T52 | 525-528 | CVCL_E779 | denotes | MMR |
| T51 | 525-528 | GO:0006298 | denotes | MMR |
| T56 | 552-555 | PR:Q9M345 | denotes | SGC |
| T57 | 569-572 | PR:000006870 | denotes | MSI |
| T58 | 569-572 | PR:P70245 | denotes | MSI |
| T59 | 575-578 | PR:Q9M345 | denotes | SGC |
| T60 | 607-611 | PR:Q9ZRV4 | denotes | MLH1 |
| T61 | 607-611 | PR:P38920 | denotes | MLH1 |
| T62 | 607-611 | PR:Q54KD8 | denotes | MLH1 |
| T64 | 607-611 | PR:Q9JK91 | denotes | MLH1 |
| T65 | 607-611 | PR:P97679 | denotes | MLH1 |
| T66 | 607-611 | PR:Q9P7W6 | denotes | MLH1 |
| T67 | 607-611 | PR:000010442 | denotes | MLH1 |
| T68 | 607-611 | PR:P40692 | denotes | MLH1 |
| T63 | 607-611 | CVCL_G669 | denotes | MLH1 |
| T69 | 612-620 | SO:0000167 | denotes | promoter |
| T70 | 677-681 | PR:Q9ZRV4 | denotes | MLH1 |
| T71 | 677-681 | PR:P38920 | denotes | MLH1 |
| T72 | 677-681 | PR:Q54KD8 | denotes | MLH1 |
| T74 | 677-681 | PR:Q9JK91 | denotes | MLH1 |
| T75 | 677-681 | PR:P97679 | denotes | MLH1 |
| T76 | 677-681 | PR:Q9P7W6 | denotes | MLH1 |
| T77 | 677-681 | PR:000010442 | denotes | MLH1 |
| T78 | 677-681 | PR:P40692 | denotes | MLH1 |
| T73 | 677-681 | CVCL_G669 | denotes | MLH1 |
| T80 | 683-686 | CHEBI:16768 | denotes | MSH |
| T84 | 683-686 | D009074 | denotes | MSH |
| T85 | 683-686 | D009074 | denotes | MSH |
| T86 | 683-687 | PR:000010666 | denotes | MSH2 |
| T87 | 683-687 | PR:P25847 | denotes | MSH2 |
| T88 | 683-687 | PR:P43246 | denotes | MSH2 |
| T89 | 683-687 | P22711 | denotes | MSH2 |
| T90 | 683-687 | PR:P22711 | denotes | MSH2 |
| T91 | 683-687 | PR:P54275 | denotes | MSH2 |
| T92 | 683-687 | PR:O74773 | denotes | MSH2 |
| T93 | 683-687 | PR:P43247 | denotes | MSH2 |
| T94 | 683-687 | PR:Q553L4 | denotes | MSH2 |
| T95 | 683-687 | PR:O24617 | denotes | MSH2 |
| T97 | 689-692 | CHEBI:16768 | denotes | MSH |
| T101 | 689-692 | D009074 | denotes | MSH |
| T102 | 689-692 | D009074 | denotes | MSH |
| T103 | 689-693 | PR:P52701 | denotes | MSH6 |
| T104 | 689-693 | PR:P54276 | denotes | MSH6 |
| T105 | 689-693 | PR:Q9VUM0 | denotes | MSH6 |
| T106 | 689-693 | PR:Q55GU9 | denotes | MSH6 |
| T107 | 689-693 | PR:O04716 | denotes | MSH6 |
| T108 | 689-693 | PR:Q03834 | denotes | MSH6 |
| T109 | 689-693 | PR:O74502 | denotes | MSH6 |
| T110 | 689-693 | PR:000010670 | denotes | MSH6 |
| T111 | 695-699 | PR:F4JN26 | denotes | MLH3 |
| T112 | 695-699 | PR:Q12083 | denotes | MLH3 |
| T113 | 695-699 | PR:000010443 | denotes | MLH3 |
| T114 | 695-699 | PR:Q9UHC1 | denotes | MLH3 |
| T118 | 705-709 | PR:Q9LYB9 | denotes | MBD4 |
| T119 | 705-709 | P82019 | denotes | MBD4 |
| T120 | 705-709 | PR:Q9Z2D7 | denotes | MBD4 |
| T121 | 705-709 | PR:P82019 | denotes | MBD4 |
| T122 | 705-709 | PR:000010218 | denotes | MBD4 |
| T123 | 705-709 | PR:O95243 | denotes | MBD4 |
| T125 | 805-808 | CHEBI:16768 | denotes | MSH |
| T129 | 805-808 | D009074 | denotes | MSH |
| T130 | 805-808 | D009074 | denotes | MSH |
| T131 | 805-809 | PR:P52701 | denotes | MSH6 |
| T132 | 805-809 | PR:P54276 | denotes | MSH6 |
| T133 | 805-809 | PR:Q9VUM0 | denotes | MSH6 |
| T134 | 805-809 | PR:Q55GU9 | denotes | MSH6 |
| T135 | 805-809 | PR:O04716 | denotes | MSH6 |
| T136 | 805-809 | PR:Q03834 | denotes | MSH6 |
| T137 | 805-809 | PR:O74502 | denotes | MSH6 |
| T138 | 805-809 | PR:000010670 | denotes | MSH6 |
| T139 | 818-822 | PR:F4JN26 | denotes | MLH3 |
| T140 | 818-822 | PR:Q12083 | denotes | MLH3 |
| T141 | 818-822 | PR:000010443 | denotes | MLH3 |
| T142 | 818-822 | PR:Q9UHC1 | denotes | MLH3 |
| T146 | 835-839 | PR:Q9LYB9 | denotes | MBD4 |
| T147 | 835-839 | P82019 | denotes | MBD4 |
| T148 | 835-839 | PR:Q9Z2D7 | denotes | MBD4 |
| T149 | 835-839 | PR:P82019 | denotes | MBD4 |
| T150 | 835-839 | PR:000010218 | denotes | MBD4 |
| T151 | 835-839 | PR:O95243 | denotes | MBD4 |
| T152 | 849-857 | SO:0001583 | denotes | missense |
| T153 | 858-866 | SO:0000109 | denotes | mutation |
| T154 | 868-872 | PR:Q9ZRV4 | denotes | MLH1 |
| T155 | 868-872 | PR:P38920 | denotes | MLH1 |
| T156 | 868-872 | PR:Q54KD8 | denotes | MLH1 |
| T158 | 868-872 | PR:Q9JK91 | denotes | MLH1 |
| T159 | 868-872 | PR:P97679 | denotes | MLH1 |
| T160 | 868-872 | PR:Q9P7W6 | denotes | MLH1 |
| T161 | 868-872 | PR:000010442 | denotes | MLH1 |
| T162 | 868-872 | PR:P40692 | denotes | MLH1 |
| T157 | 868-872 | CVCL_G669 | denotes | MLH1 |
| T163 | 936-939 | PR:000006870 | denotes | MSI |
| T164 | 936-939 | PR:P70245 | denotes | MSI |
| T165 | 953-957 | PR:Q9V853 | denotes | lack |
| T166 | 958-962 | PR:Q9ZRV4 | denotes | MLH1 |
| T167 | 958-962 | PR:P38920 | denotes | MLH1 |
| T168 | 958-962 | PR:Q54KD8 | denotes | MLH1 |
| T170 | 958-962 | PR:Q9JK91 | denotes | MLH1 |
| T171 | 958-962 | PR:P97679 | denotes | MLH1 |
| T172 | 958-962 | PR:Q9P7W6 | denotes | MLH1 |
| T173 | 958-962 | PR:000010442 | denotes | MLH1 |
| T174 | 958-962 | PR:P40692 | denotes | MLH1 |
| T169 | 958-962 | CVCL_G669 | denotes | MLH1 |
| T175 | 1034-1038 | CL:0000775 | denotes | poly |
| T176 | 1034-1038 | CL:0000096 | denotes | poly |
| T177 | 1034-1040 | CHEBI:8287 | denotes | poly-A |
| T178 | 1034-1040 | CHEBI:8756 | denotes | poly-A |
| T179 | 1034-1040 | D011061 | denotes | poly-A |
| T180 | 1034-1040 | D011061 | denotes | poly-A |
| T181 | 1091-1094 | PR:000006870 | denotes | MSI |
| T182 | 1091-1094 | PR:P70245 | denotes | MSI |
| T185 | 1160-1163 | P22897 | denotes | MMR |
| T186 | 1160-1163 | PR:000002972 | denotes | MMR |
| T187 | 1160-1163 | Q61830 | denotes | MMR |
| T184 | 1160-1163 | CVCL_E779 | denotes | MMR |
| T183 | 1160-1163 | GO:0006298 | denotes | MMR |
| T188 | 1182-1185 | PR:Q9M345 | denotes | SGC |
| T189 | 1230-1236 | D009369 | denotes | tumors |
| T190 | 1230-1236 | D009369 | denotes | tumors |
| T193 | 1299-1302 | P22897 | denotes | MMR |
| T194 | 1299-1302 | PR:000002972 | denotes | MMR |
| T195 | 1299-1302 | Q61830 | denotes | MMR |
| T192 | 1299-1302 | CVCL_E779 | denotes | MMR |
| T191 | 1299-1302 | GO:0006298 | denotes | MMR |
| T196 | 1334-1337 | PR:000006870 | denotes | MSI |
| T197 | 1334-1337 | PR:P70245 | denotes | MSI |
| T198 | 1340-1354 | D013274 | denotes | gastric cancer |
| T199 | 1340-1354 | D013274 | denotes | gastric cancer |
| T200 | 1363-1367 | PR:Q9ZRV4 | denotes | MLH1 |
| T201 | 1363-1367 | PR:P38920 | denotes | MLH1 |
| T202 | 1363-1367 | PR:Q54KD8 | denotes | MLH1 |
| T204 | 1363-1367 | PR:Q9JK91 | denotes | MLH1 |
| T205 | 1363-1367 | PR:P97679 | denotes | MLH1 |
| T206 | 1363-1367 | PR:Q9P7W6 | denotes | MLH1 |
| T207 | 1363-1367 | PR:000010442 | denotes | MLH1 |
| T208 | 1363-1367 | PR:P40692 | denotes | MLH1 |
| T203 | 1363-1367 | CVCL_G669 | denotes | MLH1 |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 215-218 | gene:4360 | denotes | MMR |
| T1 | 137-178 | disease:C1333990 | denotes | hereditary nonpolyposis colorectal cancer |
| T2 | 215-218 | gene:4360 | denotes | MMR |
| T3 | 180-185 | disease:C1333990 | denotes | HNPCC |
| T4 | 215-218 | gene:4360 | denotes | MMR |
| T5 | 241-255 | disease:C0265325 | denotes | MMR deficiency |
| T6 | 1299-1302 | gene:4360 | denotes | MMR |
| T7 | 1340-1354 | disease:C0024623 | denotes | gastric cancer |
| T8 | 1299-1302 | gene:4360 | denotes | MMR |
| T9 | 1340-1354 | disease:C0699791 | denotes | gastric cancer |
| T10 | 1363-1367 | gene:4292 | denotes | MLH1 |
| T11 | 1340-1354 | disease:C0024623 | denotes | gastric cancer |
| T12 | 1363-1367 | gene:4292 | denotes | MLH1 |
| T13 | 1340-1354 | disease:C0699791 | denotes | gastric cancer |
| R1 | T0 | T1 | associated_with | MMR,hereditary nonpolyposis colorectal cancer |
| R2 | T2 | T3 | associated_with | MMR,HNPCC |
| R3 | T4 | T5 | associated_with | MMR,MMR deficiency |
| R4 | T6 | T7 | associated_with | MMR,gastric cancer |
| R5 | T8 | T9 | associated_with | MMR,gastric cancer |
| R6 | T10 | T11 | associated_with | MLH1,gastric cancer |
| R7 | T12 | T13 | associated_with | MLH1,gastric cancer |