A "cancer predisposing syndrome" later labeled as Hereditary Non-Polyposis Colorectal Cancer (HNPCC) or Lynch syndrome, was firstly described by Warthin, about one century ago. An increased predisposition to the development of multiple familial tumors is described as characteristic of this syndrome where visceral and cutaneous malignancies may appear at an early age namely endometrial, gastric, small bowel, ureteral and renal pelvis, ovarian, hepatobiliary tract, pancreatic, brain (Turcot Syndrome) and sebaceous glands (Muir-Torre Syndrome). The latter, a variant of Lynch Syndrome, is characterized by the presence of sebaceous skin adenomas, carcinomas and/or keratoachantomas associated to visceral malignancies. Both Lynch Syndrome and Muir-Torre Syndrome have been recognized as due to germline mutations in mismatch repair genes MLH1, MSH2 and MSH6. To date, 56 Lynch Syndrome founder mutations dependent on MLH1, MSH2 and, although less frequently found, MSH6 and PMS2 are described. Some of these founder mutations, principally of MSH2 gene, have been described to cause Muir-Torre phenotype and have been traced in large and outbreed Muir-Torre Syndrome families living in different US and European territories. Due to the evidences of highly specific Muir-Torre phenotypes related to the presence of widespread MSH2 founder mutations, preliminary search for these MSH2 common mutations in individuals carring sebaceous tumors and/or keratoacanthomas, at early age or in association to visceral and familial tumors, permits cost-effective and time-saving diagnostics strategies for Lynch/Muir-Torre syndromes.

Muir-Torre Syndrome and founder Mismatch Repair genes mutations: A long gone historical genetic challenge / Ponti, Giovanni; Manfredini, Marco; Tomasi, Aldo; Pellacani, Giovanni. - In: GENE. - ISSN 0378-1119. - 589:2(2016), pp. 127-132. [10.1016/j.gene.2015.06.078]

Muir-Torre Syndrome and founder Mismatch Repair genes mutations: A long gone historical genetic challenge

PONTI, Giovanni;MANFREDINI, Marco;TOMASI, Aldo;PELLACANI, Giovanni
2016

Abstract

A "cancer predisposing syndrome" later labeled as Hereditary Non-Polyposis Colorectal Cancer (HNPCC) or Lynch syndrome, was firstly described by Warthin, about one century ago. An increased predisposition to the development of multiple familial tumors is described as characteristic of this syndrome where visceral and cutaneous malignancies may appear at an early age namely endometrial, gastric, small bowel, ureteral and renal pelvis, ovarian, hepatobiliary tract, pancreatic, brain (Turcot Syndrome) and sebaceous glands (Muir-Torre Syndrome). The latter, a variant of Lynch Syndrome, is characterized by the presence of sebaceous skin adenomas, carcinomas and/or keratoachantomas associated to visceral malignancies. Both Lynch Syndrome and Muir-Torre Syndrome have been recognized as due to germline mutations in mismatch repair genes MLH1, MSH2 and MSH6. To date, 56 Lynch Syndrome founder mutations dependent on MLH1, MSH2 and, although less frequently found, MSH6 and PMS2 are described. Some of these founder mutations, principally of MSH2 gene, have been described to cause Muir-Torre phenotype and have been traced in large and outbreed Muir-Torre Syndrome families living in different US and European territories. Due to the evidences of highly specific Muir-Torre phenotypes related to the presence of widespread MSH2 founder mutations, preliminary search for these MSH2 common mutations in individuals carring sebaceous tumors and/or keratoacanthomas, at early age or in association to visceral and familial tumors, permits cost-effective and time-saving diagnostics strategies for Lynch/Muir-Torre syndromes.
2-lug-2015
589
2
127
132
Muir-Torre Syndrome and founder Mismatch Repair genes mutations: A long gone historical genetic challenge / Ponti, Giovanni; Manfredini, Marco; Tomasi, Aldo; Pellacani, Giovanni. - In: GENE. - ISSN 0378-1119. - 589:2(2016), pp. 127-132. [10.1016/j.gene.2015.06.078]
Ponti, Giovanni; Manfredini, Marco; Tomasi, Aldo; Pellacani, Giovanni
File in questo prodotto:
File Dimensione Formato  
1-s2.0-S0378111915008021-main.pdf

non disponibili

Tipologia: Versione dell'editore (versione pubblicata)
Dimensione 536.89 kB
Formato Adobe PDF
536.89 kB Adobe PDF   Visualizza/Apri   Richiedi una copia
Pubblicazioni consigliate

Caricamento pubblicazioni consigliate

Licenza Creative Commons
I metadati presenti in IRIS UNIMORE sono rilasciati con licenza Creative Commons CC0 1.0 Universal, mentre i file delle pubblicazioni sono rilasciati con licenza Attribuzione 4.0 Internazionale (CC BY 4.0), salvo diversa indicazione.
In caso di violazione di copyright, contattare Supporto Iris

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11380/1069246
Citazioni
  • ???jsp.display-item.citation.pmc??? 3
  • Scopus 12
  • ???jsp.display-item.citation.isi??? 11
social impact