Clonal haematopoiesis of intermediate potential (CHIP) driven by somatic mutations in DNMT3A and TET2 has been recently recognized as a new risk factor for cardiovascular diseases (CVD). The haematopoietic clones with mutations in these genes are frequently found in myeloid malignancies and according …

5% to 10% of all cancers are linked to gene mutations inherited from parents. The most common gene related to hereditary cancer is the p53 gene. It is a crucial tumor suppressor. However, the mutated gene is commonly inherited from one generation to another one. The functions of p53 resume to the activation …

Aims Genetic hypertrophic cardiomyopathy (HCM) is caused by mutations in sarcomere protein-encoding genes (i.e. genotype-positive HCM). In an increasing number of patients, HCM occurs in the absence of a mutation (i.e. genotype-negative HCM). Mitochondrial dysfunction is thought to be a key driver of …

SMPD4 is a neutral sphingomyelinase that plays an important role in sphingolipid metabolism. Sphingolipids are a family of lipid molecules abundantly present in the brain where they play an important role in the brain development and function due to their essential cellular role as structural components …

Cutaneous melanoma is a type of skin cancer that develops from benign melanocytes to one of the most aggressive types of skin tumors in human. In cutaneous melanoma progression, the metastasis phase is the most challenging phase to treat. To enable earlier treatment options, a better understanding of …

Accurate assessment of TP53 gene status in sporadic tumors and in the germline of individuals at high risk of cancer due to Li–Fraumeni Syndrome (LFS) has important clinical implications for diagnosis, surveillance, and therapy. Genomic data from more than 20,000 cancer genomes provide a wealth of information …

The 2016 scientific meeting of the Human Genome Variation Society (HGVS; http://www.hgvs.org) was held on the 20th of May in Barcelona, Spain, with the theme of “Clinical Interpretation of Variants from Next-Generation Sequencing".

Numerous databases containing information about DNA, RNA, and protein variations are available. Gene‐specific variant databases (locus‐specific variation databases, LSDBs) are typically curated and maintained for single genes or groups of genes for a certain disease(s). These databases are widely considered …

The consistent and unambiguous description of sequence variants is essential to report and exchange information on the analysis of a genome. In particular, DNA diagnostics critically depends on accurate and standardized description and sharing of the variants detected. The sequence variant nomenclature …

There is now a convergence of two modes of genetic testing, that of testing a few candidate genes at a time based on suspicion of a specific genetic disease, and that of genomic testing, especially when a candidate gene(s) is not suspected or known. Both aim to interpret pathogenicity of identified genetic …