NF2 -related schwannomatosis ( NF2 -SWN) (NF2; MIM # 101000) is a neurogenetic condition caused by germline pathogenic variants in the NF2 gene. Affected individuals are predisposed to develop ...

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

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 ...

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 Familial exudative vitreoretinopathy (FEVR) is an inherited eye disease characterised by the incomplete development of the retinal vasculature. Over 10 genes have been associated with FEVR, ...

Background Improving the precision and accuracy of variant classification in clinical genetic testing requires further specification and stratification of the American College of Medical ...

Introduction Rapid advances in whole-exome sequencing (WES) have enabled large-scale detection of pathogenic variants. Although hundreds of genes are implicated in hearing loss, up to half of ...

Background Current standard-of-care (SOC) methods for genetic testing are capable of resolving deletions and sequence variants, but they mostly fail to provide information on the breakpoints of ...

Background Recurrent preimplantation embryo developmental arrest (RPEA) is the most common phenotype in assisted reproductive technology treatment failure associated with identified genetic ...