[Lynch syndrome, Muir Torre variant: 2 cases]

Autor:	María Del Carmen, Castro-Mujica, Claudia, Barletta-Carrillo, Marisa, Acosta-Aliaga, Ximena, Montenegro-Garreaud
Rok vydání:	2016
Předmět:	Muir-Torre Syndrome Humans Female Microsatellite Instability Middle Aged Pedigree
Zdroj:	Revista de gastroenterologia del Peru : organo oficial de la Sociedad de Gastroenterologia del Peru. 36(1)
ISSN:	1609-722X
Popis:	Lynch syndrome (LS) is an autosomal-dominant inherited cancer predisposition syndrome caused by germline mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6 or PMS2). Muir-Torre syndrome (MTS) is a phenotypic variant of LS that includes a predisposition to sebaceous glands tumors and keratoacanthomas. We report two patients with MTS, with more than one LS-related cancer, skin lesions, family history of cancer andmicrosatellite instability and immunohistochemistry analysis.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::388114395d8d3ab6694245b72a1c1b41 https://pubmed.ncbi.nlm.nih.gov/27131946 Zobrazit plný text záznamu