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Genetic and epigenetic alterations of cdh1 regulatory regions in hereditary and...

Tedaldi, G; Molinari, C; São José, C; Barbosa-Matos, R; André, A; Danesi, R; Arcangeli, V; Ravegnani, M; Saragoni, L; Morgagni, P; Rebuzzi, F; Canale, M

E-cadherin is a key player in gastric cancer (GC) and germline alterations of CDH1, its encoding gene, are responsible for Hereditary Diffuse Gastric Cancer (HDGC) syndrome. This study aimed at elucidating the role of genetic variants and DNA methylation of CDH1 promoter and enhancers in the regulation of gene expression. For this purpose, we analyzed genetic variants of the CDH1 gene through Next-Generation Se...


Neoplastic and pre-neoplastic lesions of the oesophagus and gastro-oesophageal ...

Grillo, F; Mastracci, L; Saragoni, L; Vanoli, A; Limarzi, F; Gullo, I; Ferro, J; Paudice, M; Parente, P; Fassan, M

Oesophageal and gastro-oesophageal junction (GOJ) neoplasms, and their predisposing conditions, may be encountered by the practicing pathologist both as biopsy samples and as surgical specimens in daily practice. Changes in incidence of oesophageal squamous cell carcinomas (such as a decrease in western countries) and in oesophageal and GOJ adenocarcinomas (such as a sharp increase in western countries) are bei...


Precancerous lesions of the stomach, gastric cancer and hereditary gastric canc...

Gullo, I; Grillo, F; Mastracci, L; Vanoli, A; Carneiro, F; Saragoni, L; Limarzi, F; Ferro, J; Parente, P; Fassan, M

Gastric cancer accounts for about 6% of cancers worldwide, being the fifth most frequently diagnosed malignancy and the third leading cause of cancer related death. Gastric carcinogenesis is a multistep and multifactorial process and is the result of the complex interplay between genetic susceptibility and environmental factors. The identification of predisposing conditions and of precancerous lesions is the ba...


Multigene panel testing increases the number of loci associated with gastric ca...

Tedaldi, G; Pirini, F; Tebaldi, M; Zampiga, V; Cangini, I; Danesi, R; Arcangeli, V; Ravegnani, M; Khouzam, RA; Molinari, C; Oliveira, C; Morgagni, P

The main gene involved in gastric cancer (GC) predisposition is CDH1, the pathogenic variants of which are associated with diffuse-type gastric cancer (DGC) and lobular breast cancer (LBC). CDH1 only explains a fraction (10–50%) of patients suspected of DGC/LBC genetic predisposition. To identify novel susceptibility genes, thus improving the management of families at risk, we performed a multigene panel testin...


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