KEGG   DISEASE: Hereditary nonpolyposis colorectal cancer
Entry
H02565                      Disease                                
Name
Hereditary nonpolyposis colorectal cancer
  Subgroup
Lynch syndrome
Muir-Torre syndrome [DS:H02566]
  Supergrp
Colorectal cancer [DS:H00020]
Solid tumor [DS:H02421]
Mismatch repair deficiency [DS:H00876]
Description
Hereditary non-polyposis colorectal cancer (HNPCC) syndrome is characterized by inherited predisposition to early colorectal carcinoma and extracolonic epithelia-derived tumors most often located in the gastrointestinal and urogenital tracts. HNPCC is caused by familial mutations in some of the genes responsible for DNA mismatch repair.
Category
Cancer
Brite
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Malignant neoplasms, except primary neoplasms of lymphoid, haematopoietic, central nervous system or related tissues
   Malignant neoplasms, stated or presumed to be primary, of specified sites, except of lymphoid, haematopoietic, central nervous system or related tissues
    Malignant neoplasms of digestive organs
     Malignant neoplasms of intestine
      Malignant neoplasms of large intestine
       2B90  Malignant neoplasms of colon
        H02565  Hereditary nonpolyposis colorectal cancer
Pathway-based classification of diseases [BR:br08402]
 Replication and repair
  nt06503  Mismatch repair
   H02565  Hereditary nonpolyposis colorectal cancer
Pathway
hsa03430  Mismatch repair
Network
nt06503 Mismatch repair
Gene
(HNPCC1) MSH2 [HSA:4436] [KO:K08735]
(HNPCC2) MLH1 [HSA:4292] [KO:K08734]
(HNPCC4) PMS2 [HSA:5395] [KO:K10858]
(HNPCC5) MSH6 [HSA:2956] [KO:K08737]
(HNPCC6) TGFBR2 [HSA:7048] [KO:K04388]
(HNPCC7) MLH3 [HSA:27030] [KO:K08739]
(HNPCC8) EPCAM [HSA:4072] [KO:K06737]
Other DBs
ICD-11: 2B90.Y
ICD-10: C18.9
MeSH: D003123
OMIM: 120435 609310 614337 614350 614331 614385 613244
Reference
PMID:18186571 (MSH2, MLH1)
  Authors
Zhang CH, He YL, Wang FJ, Song W, Yuan XY, Yang DJ, Chen CQ, Cai SR, Zhan WH
  Title
Detection of hMSH2 and hMLH1 mutations in Chinese hereditary non-polyposis colorectal cancer kindreds.
  Journal
World J Gastroenterol 14:298-302 (2008)
DOI:10.3748/wjg.14.298
Reference
PMID:15887124 (PMS2)
  Authors
Worthley DL, Walsh MD, Barker M, Ruszkiewicz A, Bennett G, Phillips K, Suthers G
  Title
Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer.
  Journal
Gastroenterology 128:1431-6 (2005)
DOI:10.1053/j.gastro.2005.04.008
Reference
PMID:12920072 (MSH6)
  Authors
Plaschke J, Ruschoff J, Schackert HK
  Title
Genomic rearrangements of hMSH6 contribute to the genetic predisposition in suspected hereditary non-polyposis colorectal cancer syndrome.
  Journal
J Med Genet 40:597-600 (2003)
DOI:10.1136/jmg.40.8.597
Reference
PMID:9590282 (TGFBR2)
  Authors
Lu SL, Kawabata M, Imamura T, Akiyama Y, Nomizu T, Miyazono K, Yuasa Y
  Title
HNPCC associated with germline mutation in the TGF-beta type II receptor gene.
  Journal
Nat Genet 19:17-8 (1998)
DOI:10.1038/ng0598-17
Reference
PMID:11586295 (MLH3)
  Authors
Wu Y, Berends MJ, Sijmons RH, Mensink RG, Verlind E, Kooi KA, van der Sluis T, Kempinga C, van dDer Zee AG, Hollema H, Buys CH, Kleibeuker JH, Hofstra RM
  Title
A role for MLH3 in hereditary nonpolyposis colorectal cancer.
  Journal
Nat Genet 29:137-8 (2001)
DOI:10.1038/ng1001-137
Reference
PMID:21769135 (EPCAM)
  Authors
Lynch HT, Riegert-Johnson DL, Snyder C, Lynch JF, Hagenkord J, Boland CR, Rhees J, Thibodeau SN, Boardman LA, Davies J, Kuiper RP, Hoogerbrugge N, Ligtenberg MJ
  Title
Lynch syndrome-associated extracolonic tumors are rare in two extended families with the same EPCAM deletion.
  Journal
Am J Gastroenterol 106:1829-36 (2011)
DOI:10.1038/ajg.2011.203
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