KEGG DISEASE: Muir-Torre syndrome

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:

ICD-10:

MeSH:

OMIM:

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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