8 documents found, page 1 of 1

Genotype-first approach to identify associations between CDH1 germline variants...

Background Truncating pathogenic or likely pathogenic variants of CDH1 cause hereditary diffuse gastric cancer (HDGC), a tumour risk syndrome that predisposes carrier individuals to diffuse gastric and lobular breast cancer. Rare CDH1 missense variants are often classified as variants of unknown significance. We conducted a genotype– phenotype analysis in families carrying rare CDH1 variants, comparing cancer s...

The bigger the better? Evaluation of the value of large multi-gene panels in Po...

Introduction: Genetic testing of cardiomyopathies went through major changes in the last few years, from sequential Sanger sequencing of the most likely gene candidates, to multigene panels by NGS, with an ever increasing number of genes analyzed.

Increased red cell distribution width in Fanconi anemia: a novel marker of stre...

Critérios de diagnóstico da Síndrome de Brugada. Podemos melhorar?

Diagnosis of Brugada syndrome (BS) currently requires documentation of a characteristic repolarization pattern (type 1 Brugada ECG). Mutations in the SCN5A gene, which codes for sodium channel Na(v) 1.5, are found in 38% of familial cases of BS. Sodium current dysfunction negatively affects the cardiac fast response action potential, particularly in atrial and ventricular myocytes and in the fast-conducting Pur...

Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointest...

Mixed 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...

Positioning of the egc leads in Brugada Syndrome: higher sensitivy with lower s...

Introduction There is concordant opinion that upward displacement of V1, V2, and V3 leads increases the number of ECGs that are diagnostic for the Brugada Syndrome (BS). There are no data that prove whether this manoeuvre increases the sensitivity of the diagnosis without affecting its specificity. Methods and Results After the clinical diagnosis of BS had been established in a 35 years old male with identifica...

Mc4r mutations in a sample of morbid obese Portuguese patients.

[abstract]

E-Cadherin (CDH1) and p53 rather than SMAD4 and Caspase-10 germline mutations c...

Approximately 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...