Etiqueta: #JMedGenet
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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 ce…
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Advancing genotype-phenotype analysis through 3D facial morphometry: insights from Cri-du-Chat syndrome
Purpose Facial 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 remai…
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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
Background Genetic 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 …
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Genetic and embryonic transcriptome analyses reveal the molecular and developmental basis of Mayer-Rokitansky-Küster-Hauser syndrome
Background Mayer-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. Methods We performed gene-level and gene set-lev…
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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 increase…
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Cardiovascular risk in achondroplasia: a systematic review
Background Achondroplasia 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…
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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
Background Myotonic 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. …
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Exploring the spectrum of central nervous system tumours in carriers of germline POT1 variants
Background Pathogenic 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 furth…
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Dental agenesis as a novel phenotypical feature associated with hereditary diffuse gastric cancer in China
Background Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant gastric cancer associated with germline CDH1 mutations. Carriers of CDH1 mutations have a higher risk of developing gastric cancer at a younger age, highlighting the need for…