Categoría: JMG First
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Breast cancer risk in NF1-deleted patients
Neurofibromatosis type 1 (NF1, OMIM #162200) is a genetic condition with an autosomal dominant transmission. The disorder is caused by loss-of-function variants in NF1. The tumour suppressor gene NF1 (OMIM *613113) encodes neurofibromin, a negative reg…
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Recontact to return new or updated PALB2 genetic results in the clinical laboratory setting
ObjectiveThe purpose of this study was to recontact individuals with clinically actionable test results identified through a retrospective research study and to provide a framework for laboratories to recontact patients.MethodsGenetic testing was condu…
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Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals
BackgroundThe first studies on patients with forkhead-box protein P1 (FOXP1) syndrome reported associated global neurodevelopmental delay, autism symptomatology, dysmorphic features and cardiac and urogenital malformations. The aim of this study was to…
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Germline testing of BRCA1, BRCA2, PALB2 and CHEK2 c.1100delC in 1514 triple negative familial and isolated breast cancers from a single centre, with extended testing of ATM, RAD51C and RAD51D in over 400
BackgroundThe identification of germline pathogenic gene variants (PGVs) in triple negative breast cancer (TNBC) is important to inform further primary cancer risk reduction and TNBC treatment strategies. We therefore investigated the contribution of b…
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Reduced penetrance of gene variants causing amyotrophic lateral sclerosis
BackgroundAmyotrophic lateral sclerosis overlaps aetiologically and genetically with frontotemporal dementia and occurs in both familial and apparently sporadic forms. The most commonly implicated genes are C9orf72, SOD1, TARDBP and FUS. Penetrance of …
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Risk-reducing decisions regarding germline BRCA pathogenic variant: focusing on the timing of genetic testing and RRSO
BackgroundIn Japan, the public insurance policy was revised in 2020 to cover hereditary breast and ovarian cancer (HBOC), including genetic testing and surveillance, for patients with breast cancer (BC). Consequently, the demand for risk-reducing salpi…
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Titin copy number variations associated with dominant inherited phenotypes
BackgroundTitinopathies are caused by mutations in the titin gene (TTN). Titin is the largest known human protein; its gene has the longest coding phase with 364 exons. Titinopathies are very complex neuromuscular pathologies due to the variable age of…
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Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia
BackgroundClassic aniridia is a highly penetrant autosomal dominant disorder characterised by congenital absence of the iris, foveal hypoplasia, optic disc anomalies and progressive opacification of the cornea. >90% of cases of classic aniridia are …
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Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study
BackgroundPathogenic variants in TTN cause a spectrum of autosomal dominant and recessive cardiovascular, skeletal muscle and cardioskeletal disease with symptom onset across the lifespan. The aim of this study was to characterise the genotypes and phe…
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Ancestry, race and ethnicity: the role and relevance of language in clinical genetics practice
BackgroundThe terms ancestry, race and ethnicity are used variably within the medical literature and within society and clinical care. Biological lineage can provide an important context for the interpretation of genomic data, but the language used, an…