Emanuela Lucci Cordisco
Affiliation: University of Modena and Reggio Emilia
- Duodenal carcinoma in a 37-year-old man with Cowden/Bannayan syndromeMaurizio Ponz de Leon
Department of Internal Medicine, University of Modena and Reggio Emilia, Modena, Italy
Dig Liver Dis 45:75-8. 2013..The unusual appearance of a duodenal carcinoma as the first symptom rendered the identification of the syndrome extremely difficult...
- Genotype-phenotype correlations in individuals with a founder mutation in the MLH1 gene and hereditary non-polyposis colorectal cancerMaurizio Ponz de Leon
Dipartimento di Medicina Interna, Universita di Modena e Reggio Emilia, Modena, Italy
Scand J Gastroenterol 42:746-53. 2007..The main purpose of this investigation was to investigate whether patients (and families) with the 2260-2270insT mutation show relevant clinical differences when compared with individuals with other MLH1 or MSH2 gene alterations...
- Survival, surgical management and perioperative mortality of colorectal cancer in the 21-year experience of a specialised registryMaurizio Ponz de Leon
Dipartimento di Medicina Interna, Universita di Modena e Reggio Emilia, Policlinico, Modena, Italy
Int J Colorectal Dis 24:777-88. 2009..Through the data of a colorectal cancer registry, we purposed to evaluate changes in surgical procedures for colorectal neoplasms and to analyse trends of perioperative mortality...
- Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomasGiovanni Ponti
Department of Internal Medicine, Division of Dermatology, University of Modena and Reggio Emilia, Modena, Italy
J Invest Dermatol 126:2302-7. 2006....
- Identification of Muir-Torre syndrome among patients with sebaceous tumors and keratoacanthomas: role of clinical features, microsatellite instability, and immunohistochemistryGiovanni Ponti
Division of Internal Medicine, University of Modena and Reggio Emilia, Modena, Italy
Cancer 103:1018-25. 2005....
- Different molecular mechanisms underlie genomic deletions in the MLH1 GeneAlessandra Viel
Divisione di Oncologia Sperimentale 1, Centro di Riferimento Oncologico IRCCS, Aviano, Italy
Hum Mutat 20:368-74. 2002..In particular, HNPCC resulting from L1-mediated recombination has been identified as a novel mechanism for MMR inactivating mutation...
- Hereditary nonpolyposis colorectal cancer and related conditionsEmanuela Lucci-Cordisco
Institute of Medical Genetics, Catholic University A Gemelli School of Medicine, University of Florence, Italy
Am J Med Genet A 122:325-34. 2003....
- The spectrum of WRN mutations in Werner syndrome patientsShurong Huang
Department of Pathology, University of Washington, Seattle, Washington 98195 7470, USA
Hum Mutat 27:558-67. 2006..These, as well as inducible and complemented hTERT (catalytic subunit of human telomerase) immortalized skin fibroblast cell lines are available to qualified investigators...
- The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndromeEmanuela Lucci-Cordisco
Center for Cancer Study and Prevention C S P O, Florence, Italy
Cancer Biomark 2:11-27. 2006..Currently, since MSI analysis is routinely performed as a diagnostic test for Lynch syndrome, tumor MSI status represents the most important factor for determining the pathogenicity of UVs in MMR genes...