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Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointest...
Velho, Sérgia; Oliveira, Carla; Paredes, Joana; Sousa, Sónia; Leite, Marina; Matos, Paulo; Milanezi, Fernanda; Ribeiro, Ana Sofia; Mendes, NunoMixed lineage kinase 3 (MLK3) is a serine/threonine kinase, regulating MAPkinase signalling, in which cancer-associated mutations have never been reported. In this study, 174 primary gastrointestinal cancers (48 hereditary and 126 sporadic forms) and 7 colorectal cancer cell lines were screened for MLK3 mutations. MLK3 mutations were significantly associated with MSI phenotype in primary tumours (P = 0.0005), o...
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...
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