KEGG   DISEASE: H00876Help
Entry
H00876                      Disease                                

Name
Mismatch repair deficiency, including:
Hereditary non-polyposis colorectal cancer (HNPCC);
Lynch syndrome;
Muir-Torre syndrome;
Turcot syndrome
Description
Mismatch repair (MMR) deficiency is a condition associated with DNA mismatch repair mutations. MMR deficiency is correlated with hereditary non-polyposis colorectal cancer (HNPCC) and some forms of sporadic tumors. HNPCC also referred to as Lynch syndrome, is an autosomal-dominant-inherited disorder characterized by predisposition to colorectal cancer and extracolonic malignancies, frequent multiple primary tumors in the same patient, and early age of cancer onset. A clinical variant of Lynch syndrome, Muir-Torre syndrome (MTS) is characterized by the association between one or more visceral malignancies, with at least one sebaceous skin tumor or keratoacanthoma. Turcot syndrome is characterized by the concurrence of primary brain tumors and colon cancers and/or multiple colorectal adenomas.
Category
Congenital disorder of DNA repair systems
BRITE hierarchy
Pathway
Mismatch repair
Colorectal cancer
Endometrial cancer
Gene
MSH2 [HSA:4436] [KO:K08735]
MSH6 [HSA:2956] [KO:K08737]
MLH1 [HSA:4292] [KO:K08734]
MLH3 [HSA:27030] [KO:K08739]
PMS2 [HSA:5395] [KO:K10858]
EPCAM [HSA:4072] [KO:K06737]
Other DBs
Reference
  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)
Reference
  Authors
Marti TM, Kunz C, Fleck O.
  Title
DNA mismatch repair and mutation avoidance pathways.
  Journal
J Cell Physiol 191:28-41 (2002)
Reference
  Authors
Masuda K, Banno K, Yanokura M, Kobayashi Y, Kisu I, Ueki A, Ono A, Asahara N, Nomura H, Hirasawa A, Susumu N, Aoki D
  Title
Relationship between DNA Mismatch Repair Deficiency and Endometrial Cancer.
  Journal
Mol Biol Int 2011:256063 (2011)
Reference
  Authors
Nakagawa H, Lockman JC, Frankel WL, Hampel H, Steenblock K, Burgart LJ, Thibodeau SN, de la Chapelle A
  Title
Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation.
  Journal
Cancer Res 64:4721-7 (2004)
Reference
  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)
Reference
  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)

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