Epidemiological data such as birth incidence or population prevalence for rare conditions is difficult to obtain because of the large sample size required in order to obtain a valid estimate (ie based ...
Exploring the clinical and mutational spectrum of MORC2-associated disorders ...
Genetic testing for cancer susceptibility underpins precision cancer prevention and care. Gaps in the healthcare providers’ ...
Background Since 2020, the UK National Institute for Health and Care Excellence (NICE) recommends screening for Lynch syndrome in all people newly diagnosed with endometrial cancer. Screening involves ...
Mosaic neurofibromatosis type 1 (NF1) poses a significant diagnostic challenge due to low-level mosaicism and the confinement ...
Background Next-generation sequencing of cancer predisposition genes is routinely used in hereditary cancer diagnostics.
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 ...
Background During genetic screening for radioulnar synostosis (RUS), we identified FBN2 variants in individuals who also exhibited pectus excavatum (PE). This study aimed to investigate the ...
Background Bartter syndrome (BS) is a salt-losing renal tubulopathy classically characterised by hypokalaemic metabolic alkalosis and hyperreninaemic hyperaldosteronism. Methods We investigated the ...
The microphthalmia-associated transcription factor (MITF) is a key regulator of melanocyte development, function and survival. The p.E318K variant affects SUMOylation at K316 and has been shown to ...
Purpose Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder caused by contraction or hypomethylation of the D4Z4 repeat array located at chromosome ...
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