KEGG DISEASE: Mismatch repair deficiency

DISEASE: Mismatch repair deficiency

Entry

H00876                      Disease

Name

Mismatch repair deficiency

Subgroup

Mismatch repair cancer syndrome (MMRCS)
Hereditary non-polyposis colorectal cancer (HNPCC) [DS:H02565]
Lynch 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

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
       2B9Y  Other specified malignant neoplasms of large intestine
        H00876  Mismatch repair deficiency
Pathway-based classification of diseases [BR:br08402]
Replication and repair
  nt06503  Mismatch repair
   H00876  Mismatch repair deficiency

Pathway

hsa03430

Mismatch repair

hsa03460

Fanconi anemia pathway

Network

nt06503 Mismatch repair

Gene

(MMRCS1/HNPCC2) MLH1 [HSA:4292] [KO:K08734]
(MMRCS2/HNPCC1) MSH2 [HSA:4436] [KO:K08735]
(MMRCS3/HNPCC5) MSH6 [HSA:2956] [KO:K08737]
(MMRCS4/HNPCC4) PMS2 [HSA:5395] [KO:K10858]
(HNPCC7) MLH3 [HSA:27030] [KO:K08739]

Other DBs

ICD-11:

2B9Y

ICD-10:

Z15

MeSH:

D003123 D055847

OMIM:

276300 619096 619097 619101

Reference

PMID:22175017

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)
DOI:10.4061/2011/256063

Reference

PMID:24737826

Authors

Wimmer K, Kratz CP, Vasen HF, Caron O, Colas C, Entz-Werle N, Gerdes AM, Goldberg Y, Ilencikova D, Muleris M, Duval A, Lavoine N, Ruiz-Ponte C, Slavc I, Burkhardt B, Brugieres L

Title

Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD).

Journal

J Med Genet 51:355-65 (2014)
DOI:10.1136/jmedgenet-2014-102284

Reference

PMID:9927033 (MLH1)

Authors

Ricciardone MD, Ozcelik T, Cevher B, Ozdag H, Tuncer M, Gurgey A, Uzunalimoglu O, Cetinkaya H, Tanyeli A, Erken E, Ozturk M

Title

Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1.

Journal

Cancer Res 59:290-3 (1999)

Reference

PMID:12549480 (MSH2)

Authors

Bougeard G, Charbonnier F, Moerman A, Martin C, Ruchoux MM, Drouot N, Frebourg T

Title

Early onset brain tumor and lymphoma in MSH2-deficient children.

Journal

Am J Hum Genet 72:213-6 (2003)
DOI:10.1086/345297

Reference

PMID:15340263 (MSH6)

Authors

Menko FH, Kaspers GL, Meijer GA, Claes K, van Hagen JM, Gille JJ

Title

A homozygous MSH6 mutation in a child with cafe-au-lait spots, oligodendroglioma and rectal cancer.

Journal

Fam Cancer 3:123-7 (2004)
DOI:10.1023/B:FAME.0000039893.19289.18

Reference

PMID:15256438 (PMS2)

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)
DOI:10.1158/0008-5472.CAN-03-2879

LinkDB

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