Background Mainstreaming, in which genetic testing is shifted outside clinical genetics, can improve access to genetic testing. This is being explored in several countries, including Canada, the USA ...
Background Dysregulation of the RAS-mitogen-activated protein kinase signalling pathway underlies RASopathies, a family of ...
Mosaic neurofibromatosis type 1 (NF1) poses a significant diagnostic challenge due to low-level mosaicism and the confinement of pathogenic variants to neuroectodermal lineages, frequently resulting ...
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 ...
7 Soroka Medical Center Institute of Human Genetics, Be’er Sheva, Israel Background Preconception genetic screening is a key preventive strategy for identifying at-risk couples (ARCs) of inherited ...
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 ...
Background Mammalian target of rapamycin (mTOR) inhibitors are effective treatments for tumours and epilepsy in tuberous sclerosis complex (TSC). This study aimed to determine the effects of the mTOR ...
Background Current clinical approaches to inherited prostate cancer (PCa) risk rely on binary classification of pathogenic variant (PV) carrier status without accounting for gene-specific ...
2 St George’s University Hospitals NHS Foundation Trust, London, UK Background Cancer Variant Interpretation Group UK (CanVIG-UK) was established in 2017 in response to the publication of the 2015 ...
Background During genetic screening for radioulnar synostosis (RUS), we identified FBN2 variants in individuals who also exhibited pectus excavatum (PE). This study aimed to investigate the ...
Purpose von Hippel-Lindau (VHL) syndrome-related renal cell carcinoma (RCC) is the most prevalent hereditary RCC and exhibits clinical heterogeneity, complicating patient management. While VHL gene ...
Background Facioscapulohumeral muscular dystrophy 1 (FSHD1) is one of the most common autosomal dominant neuromuscular diseases. Genetic diagnosis of FSHD1 remains a challenge because of the long ...
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