48:
181:
168:, a clinically similar condition with different underlying mutations. Diagnostic testing consists of a blood sample being collected, and a genetic specialist compares two copies of a patient's gene to normal MMR genes. If there are differences in the genes, the specialists are able to further test and decide if the patient has the deficiency.
471:
Jackson CC, Holter S, Pollett A, Clendenning M, Chou S, Senter L, Ramphal R, Gallinger S, Boycott K (June 2008). "Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2".
141:, while biallelic mutations are observed in CMMR-D. People expressing the HNPCC (which itself is considered autosomal dominant) trait are considered carriers of CMMR-D, thus CMMR-D is classified as autosomal recessive.
538:
1292:
397:"Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1"
1285:
395:
KrĂĽger S, Kinzel M, Walldorf C, Gottschling S, Bier A, Tinschert S, von
Stackelberg A, Henn W, Görgens H, Boue S, Kölble K, Büttner R, Schackert HK (January 2008).
1558:
1568:
1278:
556:
Turcot J, Despres JP, St Pierre F (1959). "Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases".
729:
436:
Tan TY, Orme LM, Lynch E, Croxford MA, Dow C, Dewan PA, Lipton L (March 2008). "Biallelic PMS2 mutations and a distinctive childhood cancer syndrome".
244:
1563:
352:
Wimmer K, Etzler J (September 2008). "Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?".
960:
836:
82:
mutations. It is also known as Turcot syndrome (after
Jacques Turcot, who described the condition in 1959) and by several other names.
1426:
985:
138:
722:
1210:
303:
1543:
1070:
755:
543:
1259:
1215:
715:
633:
286:
1270:
191:
822:
1333:
1513:
1387:
1118:
17:
515:
1553:
1309:
1220:
1023:
980:
951:
165:
1492:
931:
606:
1249:
923:
746:
695:
1538:
1301:
1189:
965:
941:
1459:
1414:
1375:
1205:
946:
927:
800:
164:. The polyps developed tend to be larger, fewer, and progress to malignancy earlier than those seen in
1454:
1113:
1042:
738:
1508:
1065:
919:
644:
302:
Kratz CP, Holter S, Etzler J, Lauten M, Pollett A, Niemeyer CM, Gallinger S, Wimmer K (June 2009).
1431:
1254:
1003:
772:
145:
1548:
1354:
1095:
883:
845:
94:
90:
1397:
955:
1100:
8:
1496:
1418:
1300:
602:
79:
1160:
1142:
1082:
911:
907:
581:
497:
377:
334:
304:"Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome"
1383:
1227:
1179:
1170:
893:
795:
764:
655:
573:
489:
453:
418:
369:
326:
60:
585:
501:
381:
338:
1028:
902:
817:
805:
565:
481:
445:
408:
361:
318:
260:
684:
1487:
1317:
1305:
870:
853:
649:
449:
227:
98:
75:
1503:
1482:
1404:
1184:
1147:
1077:
975:
915:
858:
787:
777:
660:
134:
365:
133:. Monoallelic mutations of these genes are observed in the condition known as
1532:
1476:
1392:
1128:
810:
707:
625:
413:
396:
322:
218:
currently includes "Turcot syndrome" under
Mismatch repair cancer syndrome.
1090:
610:
577:
493:
457:
422:
373:
330:
47:
1446:
1155:
1108:
1051:
995:
223:
102:
180:
1366:
1343:
1241:
569:
485:
1137:
1060:
878:
679:
238:
231:
1348:
1327:
1200:
690:
86:
241:
638:
603:
Turcot syndrome; CNS tumors with
Familial polyposis of the colon
290:
470:
394:
234:
222:
is the association between familial polyposis of the colon and
161:
157:
144:
The term "childhood cancer syndrome" has also been proposed.
55:
This condition is inherited in an autosomal recessive manner
1197:
215:
130:
126:
122:
118:
41:
Brain tumor-polyposis syndrome, Glioma-polyposis syndrome
301:
555:
615:
516:"Constitutional Mismatch Repair Deficiency Syndrome"
435:
251:in 1959 and hence carries the first author's name.
1530:
1559:DNA replication and repair-deficiency disorders
101:, multiple colonic polyps develop; in the CNS,
1569:Syndromes affecting the gastrointestinal tract
737:
1286:
723:
282:
280:
278:
276:
351:
464:
429:
388:
345:
295:
1293:
1279:
730:
716:
273:
46:
1427:Hereditary nonpolyposis colorectal cancer
986:Hereditary nonpolyposis colorectal cancer
412:
139:hereditary nonpolyposis colorectal cancer
115:constitutional mismatch repair-deficiency
438:Journal of Pediatric Hematology/Oncology
1211:Intraductal papillary mucinous neoplasm
14:
1564:Syndromes affecting the nervous system
1531:
1274:
711:
175:
1260:Desmoplastic small round cell tumor
287:Online Mendelian Inheritance in Man
24:
961:Polymerase proofreading-associated
401:European Journal of Human Genetics
117:, (CMMR-D), it has been mapped to
25:
1580:
823:Hereditary diffuse gastric cancer
596:
1514:Severe combined immunodeficiency
1119:Nodular regenerative hyperplasia
558:Diseases of the Colon and Rectum
179:
1437:Mismatch repair cancer syndrome
156:Childhood to early adult onset
72:Mismatch repair cancer syndrome
33:Mismatch repair cancer syndrome
1310:DNA repair-deficiency disorder
1221:Solid pseudopapillary neoplasm
1024:Gastrointestinal stromal tumor
981:Familial adenomatous polyposis
549:
532:
508:
166:familial adenomatous polyposis
13:
1:
1544:Autosomal recessive disorders
1029:Krukenberg tumor (metastatic)
266:
89:typically occurs in both the
1388:DeSanctis–Cacchione syndrome
1334:Aicardi–Goutières syndrome 4
1250:Primary peritoneal carcinoma
924:traditional serrated adenoma
544:Dorland's Medical Dictionary
474:Pediatric Blood & Cancer
450:10.1097/MPH.0b013e318161aa20
171:
151:
7:
1190:Pancreatic ductal carcinoma
311:Journal of Medical Genetics
254:
237:. It was first reported by
108:
10:
1585:
1460:Nijmegen breakage syndrome
1376:Nucleotide excision repair
1206:Serous microcystic adenoma
801:Signet ring cell carcinoma
739:Digestive system neoplasia
210:
78:associated with biallelic
1493:Rothmund–Thomson syndrome
1468:
1445:
1413:
1374:
1365:
1316:
1240:
1169:
1127:
1114:Focal nodular hyperplasia
1050:
1041:
1016:
994:
892:
869:
844:
835:
786:
763:
754:
745:
670:
619:
366:10.1007/s00439-008-0542-4
59:
54:
45:
37:
32:
1216:Mucinous cystic neoplasm
1066:Hepatocellular carcinoma
920:sessile serrated adenoma
1325:Separation/initiation:
1255:Peritoneal mesothelioma
1004:Squamous cell carcinoma
773:Squamous cell carcinoma
414:10.1038/sj.ejhg.5201923
323:10.1136/jmg.2008.064212
1355:Dyskeratosis congenita
1096:Hepatocellular adenoma
884:Pseudomyxoma peritonei
188:This section is empty.
95:central nervous system
1554:Syndromes with tumors
1455:Ataxia–telangiectasia
1398:Xeroderma pigmentosum
1509:Li–Fraumeni syndrome
1101:Cavernous hemangioma
952:Familial adenomatous
939:Polyposis syndromes:
148:have been observed.
146:Café-au-lait macules
1497:RAPADILINO syndrome
1432:Muir–Torre syndrome
1419:DNA mismatch repair
80:DNA mismatch repair
1539:Hereditary cancers
1161:Gallbladder cancer
1143:Cholangiocarcinoma
1083:Liver angiosarcoma
1017:Upper and/or lower
966:Serrated polyposis
671:External resources
570:10.1007/bf02616938
1526:
1525:
1522:
1521:
1384:Cockayne syndrome
1302:Metabolic disease
1268:
1267:
1236:
1235:
1228:Pancreatoblastoma
1180:exocrine pancreas
1037:
1036:
1012:
1011:
831:
830:
796:Gastric carcinoma
705:
704:
539:"Turcot syndrome"
486:10.1002/pbc.21514
208:
207:
69:
68:
27:Medical condition
16:(Redirected from
1576:
1372:
1371:
1295:
1288:
1281:
1272:
1271:
1048:
1047:
947:MUTYH-associated
932:Cronkhite–Canada
903:Colorectal polyp
842:
841:
818:Linitis plastica
806:Gastric lymphoma
761:
760:
752:
751:
732:
725:
718:
709:
708:
617:
616:
590:
589:
553:
547:
536:
530:
529:
527:
526:
512:
506:
505:
468:
462:
461:
433:
427:
426:
416:
392:
386:
385:
349:
343:
342:
308:
299:
293:
284:
261:Gardner syndrome
203:
200:
190:You can help by
183:
176:
50:
30:
29:
21:
1584:
1583:
1579:
1578:
1577:
1575:
1574:
1573:
1529:
1528:
1527:
1518:
1488:Werner syndrome
1464:
1441:
1409:
1361:
1318:DNA replication
1312:
1306:DNA replication
1299:
1269:
1264:
1232:
1165:
1123:
1033:
1008:
990:
888:
865:
854:Duodenal cancer
846:Small intestine
827:
782:
741:
736:
706:
701:
700:
666:
665:
628:
599:
594:
593:
554:
550:
537:
533:
524:
522:
514:
513:
509:
469:
465:
434:
430:
393:
389:
350:
346:
306:
300:
296:
285:
274:
269:
257:
228:medulloblastoma
220:Turcot syndrome
213:
204:
198:
195:
174:
154:
113:Under the name
111:
99:large intestine
76:cancer syndrome
28:
23:
22:
18:Turcot syndrome
15:
12:
11:
5:
1582:
1572:
1571:
1566:
1561:
1556:
1551:
1546:
1541:
1524:
1523:
1520:
1519:
1517:
1516:
1511:
1506:
1504:Fanconi anemia
1501:
1500:
1499:
1490:
1485:
1483:Bloom syndrome
1472:
1470:
1466:
1465:
1463:
1462:
1457:
1451:
1449:
1443:
1442:
1440:
1439:
1434:
1429:
1423:
1421:
1411:
1410:
1408:
1407:
1405:IBIDS syndrome
1402:
1401:
1400:
1390:
1380:
1378:
1369:
1363:
1362:
1360:
1359:
1358:
1357:
1339:
1338:
1337:
1336:
1322:
1320:
1314:
1313:
1298:
1297:
1290:
1283:
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1266:
1265:
1263:
1262:
1257:
1252:
1246:
1244:
1238:
1237:
1234:
1233:
1231:
1230:
1224:
1223:
1218:
1213:
1208:
1193:
1192:
1187:
1185:Adenocarcinoma
1175:
1173:
1167:
1166:
1164:
1163:
1151:
1150:
1148:Klatskin tumor
1145:
1133:
1131:
1125:
1124:
1122:
1121:
1116:
1104:
1103:
1098:
1086:
1085:
1080:
1078:Hepatoblastoma
1075:
1074:
1073:
1056:
1054:
1045:
1039:
1038:
1035:
1034:
1032:
1031:
1026:
1020:
1018:
1014:
1013:
1010:
1009:
1007:
1006:
1000:
998:
992:
991:
989:
988:
983:
978:
976:Adenocarcinoma
969:
968:
963:
958:
949:
944:
935:
934:
898:
896:
890:
889:
887:
886:
881:
875:
873:
867:
866:
864:
863:
862:
861:
859:Adenocarcinoma
850:
848:
839:
833:
832:
829:
828:
826:
825:
820:
815:
814:
813:
803:
798:
792:
790:
784:
783:
781:
780:
778:Adenocarcinoma
775:
769:
767:
758:
749:
743:
742:
735:
734:
727:
720:
712:
703:
702:
699:
698:
687:
675:
674:
672:
668:
667:
664:
663:
652:
641:
629:
624:
623:
621:
620:Classification
614:
613:
598:
597:External links
595:
592:
591:
548:
531:
520:www.stjude.org
507:
480:(6): 1268–70.
463:
428:
387:
354:Human Genetics
344:
294:
271:
270:
268:
265:
264:
263:
256:
253:
245:Jacques Turcot
212:
209:
206:
205:
186:
184:
173:
170:
153:
150:
135:Lynch syndrome
110:
107:
97:(CNS). In the
67:
66:
63:
57:
56:
52:
51:
43:
42:
39:
35:
34:
26:
9:
6:
4:
3:
2:
1581:
1570:
1567:
1565:
1562:
1560:
1557:
1555:
1552:
1550:
1549:Rare diseases
1547:
1545:
1542:
1540:
1537:
1536:
1534:
1515:
1512:
1510:
1507:
1505:
1502:
1498:
1494:
1491:
1489:
1486:
1484:
1481:
1480:
1479:
1478:
1477:RecQ helicase
1474:
1473:
1471:
1467:
1461:
1458:
1456:
1453:
1452:
1450:
1448:
1444:
1438:
1435:
1433:
1430:
1428:
1425:
1424:
1422:
1420:
1416:
1412:
1406:
1403:
1399:
1396:
1395:
1394:
1393:Thymine dimer
1391:
1389:
1385:
1382:
1381:
1379:
1377:
1373:
1370:
1368:
1364:
1356:
1353:
1352:
1351:
1350:
1345:
1341:
1340:
1335:
1332:
1331:
1330:
1329:
1324:
1323:
1321:
1319:
1315:
1311:
1307:
1303:
1296:
1291:
1289:
1284:
1282:
1277:
1276:
1273:
1261:
1258:
1256:
1253:
1251:
1248:
1247:
1245:
1243:
1239:
1229:
1226:
1225:
1222:
1219:
1217:
1214:
1212:
1209:
1207:
1203:
1202:
1199:
1195:
1194:
1191:
1188:
1186:
1183:
1181:
1177:
1176:
1174:
1172:
1168:
1162:
1159:
1157:
1153:
1152:
1149:
1146:
1144:
1141:
1139:
1135:
1134:
1132:
1130:
1129:Biliary tract
1126:
1120:
1117:
1115:
1112:
1110:
1106:
1105:
1102:
1099:
1097:
1094:
1092:
1088:
1087:
1084:
1081:
1079:
1076:
1072:
1071:Fibrolamellar
1069:
1068:
1067:
1064:
1062:
1058:
1057:
1055:
1053:
1049:
1046:
1044:
1040:
1030:
1027:
1025:
1022:
1021:
1019:
1015:
1005:
1002:
1001:
999:
997:
993:
987:
984:
982:
979:
977:
974:
971:
970:
967:
964:
962:
959:
957:
953:
950:
948:
945:
943:
940:
937:
936:
933:
929:
928:Peutz–Jeghers
925:
921:
917:
913:
909:
906:
904:
900:
899:
897:
895:
891:
885:
882:
880:
877:
876:
874:
872:
868:
860:
857:
856:
855:
852:
851:
849:
847:
843:
840:
838:
834:
824:
821:
819:
816:
812:
811:MALT lymphoma
809:
808:
807:
804:
802:
799:
797:
794:
793:
791:
789:
785:
779:
776:
774:
771:
770:
768:
766:
762:
759:
757:
753:
750:
748:
744:
740:
733:
728:
726:
721:
719:
714:
713:
710:
697:
693:
692:
688:
686:
682:
681:
677:
676:
673:
669:
662:
658:
657:
653:
651:
647:
646:
642:
640:
636:
635:
631:
630:
627:
622:
618:
612:
611:Rare Diseases
609:'s Office of
608:
604:
601:
600:
587:
583:
579:
575:
571:
567:
563:
559:
552:
546:
545:
540:
535:
521:
517:
511:
503:
499:
495:
491:
487:
483:
479:
475:
467:
459:
455:
451:
447:
443:
439:
432:
424:
420:
415:
410:
406:
402:
398:
391:
383:
379:
375:
371:
367:
363:
360:(2): 105–22.
359:
355:
348:
340:
336:
332:
328:
324:
320:
317:(6): 418–20.
316:
312:
305:
298:
292:
288:
283:
281:
279:
277:
272:
262:
259:
258:
252:
250:
247:(1914-1977 )
246:
243:
240:
236:
233:
229:
225:
221:
217:
202:
193:
189:
185:
182:
178:
177:
169:
167:
163:
159:
149:
147:
142:
140:
136:
132:
128:
124:
120:
116:
106:
104:
100:
96:
92:
88:
83:
81:
77:
74:(MMRCS) is a
73:
64:
62:
58:
53:
49:
44:
40:
36:
31:
19:
1475:
1436:
1347:
1342:Termination/
1326:
1196:
1178:
1154:
1136:
1107:
1089:
1059:
972:
938:
912:hyperplastic
901:
894:Colon/rectum
689:
678:
654:
643:
632:
561:
557:
551:
542:
534:
523:. Retrieved
519:
510:
477:
473:
466:
444:(3): 254–7.
441:
437:
431:
407:(1): 62–72.
404:
400:
390:
357:
353:
347:
314:
310:
297:
248:
224:brain tumors
219:
214:
196:
192:adding to it
187:
160:+ malignant
155:
143:
114:
112:
103:brain tumors
84:
71:
70:
1447:MRN complex
1156:gallbladder
1109:hyperplasia
38:Other names
1533:Categories
1367:DNA repair
1344:telomerase
1242:Peritoneum
656:DiseasesDB
525:2020-03-10
267:References
85:In MMRCS,
1201:neoplasms
1138:bile duct
1061:malignant
1043:Accessory
973:Neoplasm:
956:Gardner's
879:Carcinoid
765:Esophagus
680:eMedicine
564:: 465–8.
232:malignant
199:July 2017
172:Treatment
152:Diagnosis
87:neoplasia
61:Specialty
1328:RNASEH2A
1171:Pancreas
942:Juvenile
916:juvenile
871:Appendix
747:GI tract
691:Orphanet
586:27477524
578:13839882
502:34238025
494:18273873
458:18376293
423:17851451
382:32654505
374:18709565
339:42347878
331:19293170
289:(OMIM):
255:See also
239:Canadian
109:Genetics
93:and the
65:Oncology
908:adenoma
788:Stomach
685:ped/828
650:C536928
242:surgeon
211:History
162:gliomas
1198:cystic
1091:benign
696:252202
639:276300
584:
576:
500:
492:
456:
421:
380:
372:
337:
329:
291:276300
249:et al.
235:glioma
1469:Other
1052:Liver
837:Lower
756:Upper
661:29793
582:S2CID
498:S2CID
378:S2CID
335:S2CID
307:(PDF)
226:like
158:HNPCC
1349:DKC1
1308:and
996:Anus
645:MeSH
634:OMIM
574:PMID
490:PMID
454:PMID
419:PMID
370:PMID
327:PMID
216:OMIM
131:PMS2
127:MSH6
123:MSH2
119:MLH1
1415:MSI
607:NIH
605:at
566:doi
541:at
482:doi
446:doi
409:doi
362:doi
358:124
319:doi
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137:or
129:or
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197:(
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