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The psychosocial impact of prostate cancer screening for BRCA1 and BRCA2 carriers.
BJU Int
September 2024
Netherlands Cancer Institute, Amsterdam, Netherlands.
Objectives: To report the long-term outcomes from a longitudinal psychosocial study that forms part of the 'Identification of Men with a genetic predisposition to ProstAte Cancer: Targeted Screening in men at higher genetic risk and controls' (IMPACT) study. The IMPACT study is a multi-national study of targeted prostate cancer (PrCa) screening in individuals with a known germline pathogenic variant (GPV) in either the BReast CAncer gene 1 (BRCA1) or the BReast CAncer gene 2 (BRCA2).
Subjects And Methods: Participants enrolled in the IMPACT study were invited to complete a psychosocial questionnaire prior to each annual screening visit for a minimum of 5 years.
Biallelic variants in Plexin B2 () cause amelogenesis imperfecta, hearing loss and intellectual disability.
J Med Genet
June 2024
Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS-UMR7104, Université de Strasbourg, Strasbourg, France.
Article Synopsis
- Plexins are important receptors associated with semaphorin signaling, involved in essential cellular interactions during both development and adulthood, with only some variants linked to genetic diseases so far.
- A study examined eight individuals from six families with a rare recessive condition characterized by amelogenesis imperfecta (AI), sensorineural hearing loss (SNHL), and varying levels of intellectual disability, using genetic sequencing and variant analysis.
- The research identified pathogenic biallelic variants in the plexin B2 gene, linked to a new autosomal recessive syndrome that features AI and SNHL, along with potential additional symptoms like intellectual disability and developmental abnormalities.
Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene.
Ophthalmology
January 2023
Leeds Institute of Medical Research, University of Leeds, St James's University Hospital, Leeds, United Kingdom. Electronic address:
Article Synopsis
- - The study aimed to identify the characteristics and causes of macular disease in a group of patients from six families, ranging from ages 20 to 78, including one case of age-related macular degeneration.
- - All eight patients were found to carry the same genetic deletion affecting three specific genes, which was not present in a large control group, indicating a potential link between this deletion and their macular disease.
- - The findings suggest that, contrary to previous beliefs about the CRX gene, a complete deletion of the gene is associated with a dominant form of late-onset macular disease, challenging earlier understandings of its role.
Clinical and genetic findings in TRPM1-related congenital stationary night blindness.
Acta Ophthalmol
September 2022
Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK.
Purpose: Congenital stationary night blindness (CSNB) is a heterogeneous group of Mendelian retinal disorders that present in childhood. Biallelic variants altering the protein-coding region of the TRPM1 gene are one of the commonest causes of CSNB. Here, we report the clinical and genetic findings in 10 unrelated individuals with TRPM1-retinopathy.
View Article and Find Full Text PDFCorrection: Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Genet Med
October 2021
Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK.
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