Background Next-generation sequencing of cancer predisposition genes is routinely used in hereditary cancer diagnostics.

Breast cancer risk after ovarian cancer in germline BRCA1/2 heterozygotes remains uncertain, with a recent large multicentre international study reporting lower-than-expected incidence in the first ...

Correspondence to Dr Satomi Mitsuhashi, Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo ...

Background The mitochondrial DNA (mDNA) 3243A>G variant is the most common pathogenic variant of the mDNA. To interpret results of clinical trials in mitochondrial disease, it is important to have a ...

aServicio de Genética, Fundación Jimenez-Diaz, Av Reyes Catolicos 2, Madrid 28040, Spain, bDepartment of Cellular Biology, Universidad Complutense, Madrid, Spain If you wish to reuse any or all of ...

Background We aimed to analyse the efficacy and added value of a targeted Israeli expanded carrier screening panel (IL-ECSP), beyond the first-tier test covered by the Israeli Ministry of Health (IMOH ...

Complex I deficiency is the most frequent mitochondrial disorder presenting in childhood, accounting for up to 30% of cases. As with many mitochondrial disorders, complex I deficiency is characterised ...

1 Department of Hematology and Oncology, University Hospital Mannheim, Mannheim, Germany 2 Institute of Transfusion Medicine and Immunology, Medical Faculty Mannheim, University of Heidelberg, German ...

1 Department of Pediatrics, The University of Michigan Medical School, Ann Arbor, Michigan, USA 2 Department of Human Genetics, The University of Michigan Medical School, Ann Arbor, Michigan, USA 3 ...

Background Pathogenicity predictors are integral to genomic variant interpretation but, despite their widespread usage, an independent validation of performance using a clinically relevant dataset has ...

Background Wolf–Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome involving variable size deletions of the 4p16.3 region. Seizures are frequently, but not always, associated with WHS.

This document is written on behalf of the two professional bodies in the UK that represent genetic counsellors (the Association of Genetic Nurses and Counsellors (AGNC)) and clinical geneticists (the ...