3 documents found, page 1 of 1
E-Cadherin (CDH1) and p53 rather than SMAD4 and Caspase-10 germline mutations c...
Oliveira, Carla; Ferreira, Paulo; Nabais, Sérgio; Campos, Luísa; Ferreira, Ana; Cirnes, Luís; Alves, Catarina Castro; Veiga, Isabel; Fragoso, MariaApproximately 30% of all hereditary diffuse gastric cancer (HDGC) families carry CDH1 germline mutations. The other two thirds remain genetically unexplained and are probably caused by alterations in other genes. Using polymerase chain reaction (PCR)/single-strand conformation polymorphism (SSCP)/sequencing, we screened 32 Portuguese families with a history of gastric cancer and 23 patients with early onset gas...
Germline MUTYH (MYH) mutations in portuguese individuals with multiple colorect...
Isidro, Glória; Laranjeira, Francisco; Pires, Ana; Leite, Júlio; Regateiro, Fernando; Sousa, F. Castro; Soares, José; Castro, Clara; Giria, JoãoGerminal mutations in the base excision repair (BER) gene MUTYH (MYH) have recently been described in association with predisposition to multiple colorectal adenomas and cancer. In contrast to the classic dominant condition of familial adenomatous polyposis (FAP) due to germinal mutations in the APC gene, the MYH polyposis is an autosomal recessive disease. The identification of individuals affected by MYH poly...
Molecular diagnosis of Huntington disease in Portugal : implications for geneti...
Costa, Maria do Carmo; Magalhães, Paula; Ferreirinha, Fátima; Guimarães, Laura; Januário, Cristina; Gaspar, Isabel; Loureiro, Leal; Vale, JoséHuntington disease (HD) is a eurodegenerative, autosomal dominant disorder of late-onset, caused by the expansion of a CAG repeat in the coding region of the gene. Ours is the reference laboratory for genetic testing in HD, in Portugal, since 1998; 90.1% of all 158 families known were identified for the first time, including patients with unusual presentation or without family history. A total of 338 genetic te...