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Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials ...
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Founder derivative chromosome causing a recessive-like recurrent disorder: der(17)-associated 19p13.3 duplication in the Upper Tigris Basin

Background This study investigates the genotype-phenotype correlation associated with a recurrent der(17) rearrangement combining a 19p13.3 duplication and a 17q25.3 deletion and evaluates whether the ...
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Refinement of the UKCGG/CanVIG framework for triage of putative germline variants identified via tumour and ctDNA sequencing: maximising clinical utility and harmonising gene ...

5 St George’s University Hospitals NHS Foundation Trust, London, UK Variants of possible constitutional origin are frequently identified during analysis of tumour-derived DNA. Building on the European ...
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UK consensus recommendations for onward testing for Lynch syndrome in patients with deficient mismatch repair (dMMR) non-colorectal/non-endometrial cancers

Background Tumour testing for microsatellite instability (MSI) or mismatch repair deficiency (dMMR) is used to screen for Lynch syndrome (LS) and as a biomarker for response to immune checkpoint ...
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Clinicopathological, imaging and genetic spectrum of inherited rimmed vacuolar myopathies in a Chinese cohort

Background Inherited rimmed vacuolar myopathies (RVMs) are genetically and clinically heterogeneous neuromuscular disorders characterised by rimmed vacuoles on muscle biopsy and associated with ...
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Somatic panel testing reveals no common alternative oncogenic driver in BRCA1/2-mutant high-grade serous ovarian cancer with discordant low genomic instability score

High-grade serous ovarian cancer (HGSOC) harbouring a germline pathogenic BRCA1/2 variant almost universally exhibits a concordantly high genomic instability score (GIS) on tumour mutational scar ...
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Alternative causative variants explain phenotypic severity in historical reports of NF2 missense variant carriers

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 ...
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Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study

Background Classification of heterozygous germline PTEN variants in patients with, or suspected of having, PTEN hamartoma tumour syndrome (PHTS) remains challenging. Accurate classification is ...
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Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages

Genetic testing for cancer susceptibility underpins precision cancer prevention and care. Gaps in the healthcare providers’ genetic literacy and an ambiguous lexicon for variant description may hinder ...
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Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes

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 ...
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Evolving roles within the genomic medicine workforce: a revised framework for UK practice—position on behalf of the Association of Genetic Nurses and Counsellors and the ...

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 ...