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Myxofibrosarcoma harboring an MLH1 pathogenic germline variant associated with Muir-Torre syndrome:...

Myxofibrosarcoma harboring an MLH1 pathogenic germline variant associated with Muir-Torre syndrome:...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_043b2434e9e943459da97a220dbdb95a

Myxofibrosarcoma harboring an MLH1 pathogenic germline variant associated with Muir-Torre syndrome: a case report

About this item

Full title

Myxofibrosarcoma harboring an MLH1 pathogenic germline variant associated with Muir-Torre syndrome: a case report

Publisher

London: BioMed Central Ltd

Journal title

Hereditary cancer in clinical practice, 2021-08, Vol.19 (1), p.1-34, Article 34

Language

English

Formats

Publication information

Publisher

London: BioMed Central Ltd

More information

Scope and Contents

Contents

Background Muir-Torre syndrome (MTS), which accounts for a small subset (1-3 %) of Lynch syndrome (LS), is an autosomal dominant genetic disorder characterized by sebaceous gland or keratoacanthoma associated with visceral malignancies. Most families with MTS have pathogenic germline variants (PGV) in MSH2. Sarcomas are not common on the LS tumor s...

Alternative Titles

Full title

Myxofibrosarcoma harboring an MLH1 pathogenic germline variant associated with Muir-Torre syndrome: a case report

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_043b2434e9e943459da97a220dbdb95a

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_043b2434e9e943459da97a220dbdb95a

Other Identifiers

ISSN

1897-4287,1731-2302

E-ISSN

1897-4287

DOI

10.1186/s13053-021-00192-z

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