3 documents found, page 1 of 1
The cdh1 c.1901c>t variant: A founder variant in the portuguese population w...
Barbosa-Matos, R; Leal Silva, R; Garrido, L; Aguiar, AC; Garcia-Pelaez, J; André, A; Seixas, S; Sousa, SP; Ferro, L; Vilarinho, L; Gullo, I; Devezas, VHereditary diffuse gastric cancer (HDGC) caused by CDH1 variants predisposes to early-onset diffuse gastric (DGC) and lobular breast cancer (LBC). In Northern Portugal, the unusually high number of HDGC cases in unrelated families carrying the c.1901C>T variant (formerly known as p.A634V) suggested this as a CDH1-founder variant. We aimed to demonstrate that c.1901C>T is a bona fide truncating variant inducing ...
Histological and mutational profile of diffuse gastric cancer: current knowledg...
Garcia-Pelaez, J; Barbosa-Matos, R; Gullo, I; Carneiro, F; Oliveira, CGastric cancer (GC) pathogenesis is complex and heterogeneous, reflecting morphological, molecular and genetic diversity. Diffuse gastric cancer (DGC) and intestinal gastric cancer (IGC) are the major histological types. GC may be sporadic or hereditary; sporadic GC is related to environmental and genetic low-risk factors and hereditary GC is caused by inherited high-risk mutations, so far identified only for t...
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, ME-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...