Categoría: Open access
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Primer site variations resulting in false-negative Huntingtons disease testing
IntroductionHuntington’s disease (HD) genetic testing is routinely performed to confirm diagnosis or for predictive testing in asymptomatic individuals.1 Accurate testing results are critical for patients and families, impacting not only diagnosi…
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Navigating the complexity of BRCA1/BRCA2 constitutional mosaicism: a case report and literature review exploring clinical, molecular and genetic counselling approaches
WHAT IS ALREADY KNOWN ON THIS TOPICConstitutional mosaicism resulting from postzygotic events affecting BRCA1 or BRCA2 is extremely rare.It can evade conventional germline testing strategies and complicate cancer risk assessment and genetic counselling…
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Navigating the complexity of BRCA1/BRCA2 constitutional mosaicism: a case report and literature review exploring clinical, molecular and genetic counselling approaches
WHAT IS ALREADY KNOWN ON THIS TOPICConstitutional mosaicism resulting from postzygotic events affecting BRCA1 or BRCA2 is extremely rare.It can evade conventional germline testing strategies and complicate cancer risk assessment and genetic counselling…
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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
WHAT IS ALREADY KNOWN ON THIS TOPICMismatch repair deficiency (dMMR), with evidence of microsatellite instability (MSI), is a hallmark of cancers occurring due to Lynch syndrome. Clear pathways exist for investigation of dMMR endometrial/colorectal can…
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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
WHAT IS ALREADY KNOWN ON THIS TOPICMismatch repair deficiency (dMMR), with evidence of microsatellite instability (MSI), is a hallmark of cancers occurring due to Lynch syndrome. Clear pathways exist for investigation of dMMR endometrial/colorectal can…
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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 and variant-restricted reporting across UK clinical practice
WHAT IS ALREADY KNOWN ON THIS TOPICAnalysis of tumour (including circulating tumour) DNA may identify variants of possible germline origin, but determining which findings warrant germline follow-up is challenging.WHAT THIS STUDY ADDSWe present a framew…
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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 and variant-restricted reporting across UK clinical practice
WHAT IS ALREADY KNOWN ON THIS TOPICAnalysis of tumour (including circulating tumour) DNA may identify variants of possible germline origin, but determining which findings warrant germline follow-up is challenging.WHAT THIS STUDY ADDSWe present a framew…
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Integrating deep-exome sequencing and droplet digital PCR for genetic diagnosis of 142 patients with somatic overgrowth and vascular malformation
WHAT IS ALREADY KNOWN ON THIS TOPICSomatic overgrowth syndromes and vascular malformation disorders are often caused by mosaic variants with low allele frequencies, presenting substantial diagnostic challenges that have historically resulted in many pa…
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Integrating deep-exome sequencing and droplet digital PCR for genetic diagnosis of 142 patients with somatic overgrowth and vascular malformation
WHAT IS ALREADY KNOWN ON THIS TOPICSomatic overgrowth syndromes and vascular malformation disorders are often caused by mosaic variants with low allele frequencies, presenting substantial diagnostic challenges that have historically resulted in many pa…
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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
Key messagesAdeno-associated virus-mediated mini- and micro-dystrophin gene therapies provide modest functional benefits in ambulatory patients with Duchenne muscular dystrophy.Treatment effects are more consistent and pronounced in younger children.Sa…