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
MeSH: D003123 D055847
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
LinkDB

» Japanese version

KEGG   DISEASE: Muir-Torre syndrome
Entry
H02566                      Disease                                
Name
Muir-Torre syndrome
  Supergrp
Hereditary nonpolyposis colorectal cancer [DS:H02565]
Colorectal cancer [DS:H00020]
Mismatch repair deficiency [DS:H00876]
Description
Muir-Torre syndrome is a rare autosomal-dominant genodermatosis characterized by sebaceous neoplasms and one or more visceral malignancies. Because patients have germline mutations in the DNA mismatch repair genes MSH2 and MLH1, Muir-Torre syndrome is considered a phenotypic subtype of Lynch syndrome.
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 skin
     2C31  Squamous cell carcinoma of skin
      H02566  Muir-Torre syndrome
Pathway-based classification of diseases [BR:br08402]
 Replication and repair
  nt06503  Mismatch repair
   H02566  Muir-Torre syndrome
Network
nt06503 Mismatch repair
Gene
MSH2 [HSA:4436] [KO:K08735]
MLH1 [HSA:4292] [KO:K08734]
Other DBs
ICD-11: 2C31.1
MeSH: D055653
OMIM: 158320
Reference
PMID:25427047
  Authors
Bhaijee F, Brown AS
  Title
Muir-Torre syndrome.
  Journal
Arch Pathol Lab Med 138:1685-9 (2014)
DOI:10.5858/arpa.2013-0301-RS
Reference
PMID:16826164
  Authors
Ponti G, Losi L, Pedroni M, Lucci-Cordisco E, Di Gregorio C, Pellacani G, Seidenari S
  Title
Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas.
  Journal
J Invest Dermatol 126:2302-7 (2006)
DOI:10.1038/sj.jid.5700475
Reference
PMID:7713503 (MSH2)
  Authors
Kolodner RD, Hall NR, Lipford J, Kane MF, Rao MR, Morrison P, Wirth L, Finan PJ, Burn J, Chapman P
  Title
Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations.
  Journal
Genomics 24:516-26 (1994)
DOI:10.1006/geno.1994.1661
Reference
PMID:8751876 (MLH1)
  Authors
Bapat B, Xia L, Madlensky L, Mitri A, Tonin P, Narod SA, Gallinger S
  Title
The genetic basis of Muir-Torre syndrome includes the hMLH1 locus.
  Journal
Am J Hum Genet 59:736-9 (1996)
LinkDB

» Japanese version

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