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Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohort
Since the advent of high-throughput sequencing technologies, organised germline screening, independent of personal and family cancer history, has been frequently proposed. A critical prerequisite is knowledge of the expected carrier frequencies.
Significant advances in the field of gene editing have not only provided new tools for genetic surgery, but have also heralded a new era of medicine, with possibilities never imagined even half a century ago.
Current knowledge about genetic and epigenetic involvement in the pathogenesis of inflammatory bowel disease is poor. In addition to genetic alterations, the intestinal microbiota and environmental factors also play a critical role.
Recommendations for genetic testing and counselling after sudden cardiac death: practical aspects for Swiss practice
Genetic testing can reveal substrates for cardiomyopathies and channelopathies, as well as aortic diseases and premature atherosclerosis, which may explain some sudden cardiac deaths.
Diffuse large B-cell lymphoma chemotherapy reveals a combined immunodeficiency syndrome in cartilage hair hypoplasia
Cartilage hair hypoplasia is a rare autosomal recessive ribosomopathy related to a mutation in the ribonuclease mitochondrial RNA processing (RMRP) gene, which encodes the mitochondrial portion of the RNA processing endonuclease.
Precision medicine for monogenic diabetes: from a survey to the development of a next-generation diagnostic panel
Monogenic diabetes most frequently presents as maturity onset diabetes of the young (MODY), an autosomal dominant disorder leading to beta cell dysfunction.
The message conveyed by the study of Bochud and colleagues is uplifting. Patients regard medical scientists as sufficiently dependable to be trusted with their most sensitive asset – their genetic and biochemical makeup.
Fabry disease is an X-linked disorder caused by deficiency of the lysosomal α-galactosidase A. This defect leads to progressive accumulation of glycosphingolipids in many tissues, including arterial endothelial and smooth muscle cells.
High participation rate among 25 721 patients with broad age range in a hospital-based research project involving whole-genome sequencing – the Lausanne Institutional Biobank
Surveys indicate a relatively high interest in genetics from the general population and from patients. Also, patients engaged within genetic research are generally interested in being informed about clinically actionable incidental findings.
An increasing number of disease states involve misregulation of readers, writers or erasers of epigenetic information, emphasising their key role as modulators of gene activity.