2 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...