KEGG   DISEASE: Mismatch repair deficiencyHelp
H00876                      Disease                                

Mismatch repair deficiency
Hereditary non-polyposis colorectal cancer (HNPCC) [DS:H00020]
Lynch syndrome
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.
Other disease
Human diseases [BR:br08402]
 Other diseases
   H00876  Mismatch repair deficiency
BRITE hierarchy
hsa03430  Mismatch repair
hsa05210  Colorectal cancer
hsa05213  Endometrial cancer
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]
Disorder of DNA repair system
Other DBs
ICD-10: Z15
MeSH: D003123 D055847
OMIM: 276300 120435 609310 614337 614350 614385 613244 158320 608089
Ponti G, Losi L, Pedroni M, Lucci-Cordisco E, Di Gregorio C, Pellacani G, Seidenari S
Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas.
J Invest Dermatol 126:2302-7 (2006)
Marti TM, Kunz C, Fleck O.
DNA mismatch repair and mutation avoidance pathways.
J Cell Physiol 191:28-41 (2002)
Masuda K, Banno K, Yanokura M, Kobayashi Y, Kisu I, Ueki A, Ono A, Asahara N, Nomura H, Hirasawa A, Susumu N, Aoki D
Relationship between DNA Mismatch Repair Deficiency and Endometrial Cancer.
Mol Biol Int 2011:256063 (2011)
Nakagawa H, Lockman JC, Frankel WL, Hampel H, Steenblock K, Burgart LJ, Thibodeau SN, de la Chapelle A
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.
Cancer Res 64:4721-7 (2004)
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
A role for MLH3 in hereditary nonpolyposis colorectal cancer.
Nat Genet 29:137-8 (2001)
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
Lynch syndrome-associated extracolonic tumors are rare in two extended families with the same EPCAM deletion.
Am J Gastroenterol 106:1829-36 (2011)

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