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GTR Home > Conditions/Phenotypes > Muir-Torré syndrome

Muir-Torré syndrome

Synonyms
Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas; MLH1-Related Muir-Torre Syndrome; MSH2-Related Muir-Torre Syndrome; Muir-Torre syndrome
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Lynch Syndrome
Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Gregory Idos
Laura Valle
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Available tests

139 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (139 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: COCA2, FCC2, HNPCC, HNPCC2, LYNCH2, MLH-1, MMRCS1, hMLH1, MLH1
    Summary: mutL homolog 1

  • Also known as: COCA1, FCC1, HNPCC, HNPCC1, LCFS2, LYNCH1, MMRCS2, MSH-2, hMSH2, MSH2
    Summary: mutS homolog 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Suggested reading

Clinical resources

Practice guidelines

  • SGO, 2014
    Society of Gynecologic Oncology (SGO) Clinical Practice Statement: Screening for Lynch Syndrome in Endometrial Cancer

Molecular resources

Consumer resources

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