Li-Fraumeni syndrome (LFS) is associated with a high lifetime cancer risk, particularly sarcoma, breast cancer and glioblastoma. Current cancer early detection strategies in adults are annual Magnetic Resonance (MR) whole-body and brain imaging. Here we report our single-centre experience in 75 adults over 12 years. WB-MRI detected 9 out of 17 cancers diagnosed throughout the […]
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Investigating the use of a patient-facing digital app to support Lynch syndrome carriers in the management of their condition
In an increasingly digital and molecular world, it can be difficult for patients to navigate healthcare systems and keep up to date with research opportunities and changing management guidelines. In our shared partnership with Lynch Syndrome UK, we have identified what is important for Lynch syndrome carriers at risk of familial cancer. We have used […]
Biallelic pathogenic TULP3 variants presenting as neonatal cholestasis, liver fibrosis and neurological manifestations
Two Chinese children, who showed liver and neurological involvement prior to adolescence, were found to have compound heterozygous (a null and a missense) variants of TULP3. It was demonstrated that both missense variants in TULP3 could disrupt ciliogenesis or cilia function by eliminating the normal expression or localization of ciliary proteins. One patient presented with […]
New variants and genotype–phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort
This study investigates changes in the KIF5A gene, which plays a key role in moving materials within nerve cells. Mutations in this gene can lead to neurological diseases like hereditary spastic paraplegia (HSP), Charcot-Marie-Tooth disease (CMT2), and amyotrophic lateral sclerosis (ALS). By analyzing 390 Italian patients, the researchers found five individuals with harmful KIF5A mutations. […]
Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS
This study sheds new light on the long-term heart issues linked to Shprintzen-Goldberg syndrome (SGS), a rare connective tissue disorder in the same family as Marfan syndrome. Unlike previous literature with limited data, this analysis of 29 international patients reveals that nearly half develop mitral regurgitation, and over a third experience thoracic aortic aneurysms. Importantly, […]
Reproductive decision-making and pregnancy in germline CDH1 variant carriers
Diffuse gastric and lobular breast cancer (DGLBC) syndrome is an autosomal dominant disorder linked to pathogenic variants in the CDH1 gene. We performed a survey-based analysis of reproductive decision-making in 121 individuals with CDH1 variants, including 6 women who gave birth after prophylactic total gastrectomy (PTG). Approximately half of individuals reported that their CDH1 diagnosis […]
Integration of genetic counselling into a multidisciplinary urological oncology programme enhances access and detection of hereditary prostate cancer syndromes
Hereditary genetic testing can play a vital role in identifying cancer risks and informing care for individuals with prostate cancer and their families. This study evaluated the impact of integrating a dedicated genetic counselor into a multidisciplinary prostate cancer clinic. Following this change, referrals for genetic counseling and completion of genetic testing rose significantly. More […]
The γ-Actin with pathogenic variants of sites on actin-binding proteins caused earlier onset and more malignant progressive hearing loss
DFNA20/26-related hearing loss shows considerable variability in both severity and age of onset. In this study, the authors discovered a new ACTG1 variant (p.Ile327Met) of DFNA20/26 and found that its location in a protein-binding region of the γ-actin molecule leads to earlier and more severe hearing loss. These findings provide insight into how mutation sites […]
Six at Sixty. Commentary on osteogenesis imperfecta 1975–2025
Osteoporosis is the fourth most prevalent chronic illness with a huge burden of pain, disability and loss of independence in those affected in populations in the EU plus 2 and throughout the world. Familial forms of Osteoporosis not only contribute to the population frequency of painful disabling osteoporosis, but discoveries made from research into the […]
De novo heterozygous missense variants in ATP11A are associated with refractory focal epilepsy
The majority of focal epilepsy with unknown causes has genetic predisposition. This study demonstrates that de novo missense variants in ATP11A are associated with refractory focal epilepsy. Further systematic analysis indicates that variants located in transmembrane regions (TMs) are related to severe and multiple neurological symptoms, whereas non-TM variants are associated with mild and single […]