Categoría: JMG First
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ACTH-secreting atypical carcinoid lung tumour expanding the Lynch syndrome spectrum
Neuroendocrine tumours (NETs) are increasingly associated with Lynch syndrome (LS). In this autosomal dominant cancer predisposition syndrome, a somatic mutation in addition to a germline pathogenic variant is required for tumour development. We descri…
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Expert endoscopic surveillance in CDH1 pathogenic variant carriers seems safe, even after positive (pT1a) biopsies
Surveillance is increasingly considered an alternative to prophylactic total gastrectomy in asymptomatic carriers of CDH1 pathogenic variants. There are three main reasons for this paradigm shift: (1) decreasing penetrance estimates for signet ring cel…
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Advancing genotype-phenotype analysis through 3D facial morphometry: insights from Cri-du-Chat syndrome
PurposeFacial dysmorphism is a feature of many monogenic disorders and is important in diagnostics, variant interpretation and nosology. Nevertheless, comprehensively assessing the complex facial shape changes associated with specific syndromes remains…
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Validation of the pathology-adjusted Manchester scoring system in over 10 000 assessments of cases with breast and/or ovarian cancer
BackgroundGenetic testing for (likely) pathogenic variants (PVs) in BRCA1/BRCA2 has been performed in Manchester since 1996, with molecular methods/techniques and eligibility criteria changing over time. In 2004, UK National Institute for Health and Ca…
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Genetic and embryonic transcriptome analyses reveal the molecular and developmental basis of Mayer-Rokitansky-Küster-Hauser syndrome
BackgroundMayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is characterised by aplasia of the uterus, cervix and upper part of the vagina. The genetic aetiology remains incompletely understood.MethodsWe performed gene-level and gene set-level bu…
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Specific considerations for MUTYH carrier testing in individuals of Gujarati heritage: UK cancer genetics group recommendations
MUTYH-associated polyposis (MAP) is an autosomal recessive cancer predisposition syndrome. Gujarati heritage is enriched in patients with MAP. Endogamy is frequent in this community. Among ethnicity-matched participants of the 100 000 Genomes Project, …
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No association of Alzheimer disease with the joint effect of HFE and TF in the mid-western Amish
Variants in iron metabolism genes have been implicated in Alzheimer Disease (AD) pathogenesis.1 2 Previous studies suggested that the joint effect of haemochromatosis (HFE) C282Y (rs1800562) and transferrin (TF) C2 (P589S, rs1049296) variants increases…
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Cardiovascular risk in achondroplasia: a systematic review
BackgroundAchondroplasia is the most common form of disproportionate short stature and is associated with reduced life expectancy. It is not clear to what extent cardiovascular disease (CVD) is responsible for this. The primary aim of this systematic r…
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Analysis of muscle and blood RNA samples from patients with myotonic dystrophy type 1 reveals the presence of new mis-splicing biomarkers of disease severity
BackgroundMyotonic dystrophy type 1 (DM1) is a multisystem disorder with autosomal dominant inheritance, caused by the abnormal expansion of the CTG triplet in the DMPK gene. Biomarker discovery in DM1 is crucial for monitoring disease progression.Meth…
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Exploring the spectrum of central nervous system tumours in carriers of germline POT1 variants
BackgroundPathogenic variants in the protection of telomerase 1 (POT1) gene are associated with predisposition to a broad spectrum of malignancies, although the specific genotype–phenotype correlation has not yet been fully elucidated. To further…