Objective: To analyse the evolution of a multidisciplinary heredofamilial cancer unit (HFCU) in a university hospital.
Methods: This was a retrospective analysis of the activity of our HFCU in its first 5 years of existence.
Results: Between July 2010 and July 2015, 1,518 patients from 1,318 families attended our HFCU. Genetic testing was offered to 862 patients. Of those, 833 (96.6%) accepted testing, with available results for 636 (76.4%). Pathogenic mutations in BRCA1 and BRCA2 were found in 175 patients. Lynch syndrome and adenomatous polyposis were the most frequent syndromes diagnosed (151/175, 86.3%) among 17 different syndromes studied. Of the 404 patients without a previous genetic diagnosis in the family, 62 (15.3%) were found to have mutations in disease-causing genes. Prophylactic surgery and follow-up (33.7%) or follow-up only (66.3%) was proposed for mutation carriers according to international guidelines and patients' preferences.
Conclusion: We have a high mutation detection rate, genetic test acceptance, and compliance with risk reduction strategies. However, there is room for improvement, especially in genetic testing timing, considering that an increase in the indications for genetic testing is expected.
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http://dx.doi.org/10.1159/000452280 | DOI Listing |
Arch Gynecol Obstet
January 2025
Department of Obstetrics and Gynecology, McGill University, 845 Rue Sherbrooke, O, Montreal, QC, 3HA 0G4, Canada.
Purpose: To examine the association between blastocyst morphology and chromosomal status utilizing pre-implantation genetic testing for aneuploidy (PGT-A).
Methods: A single-center retrospective cohort study including 169 in-vitro fertilization cycles that underwent PGT-A using Next Generation Sequencing (2017-2022). Blastocysts were morphologically scored based on Gardner and Schoolcraft's criteria.
Pharmacogenet Genomics
January 2025
Reproductive Medicine, Instituto Bernabeu of Fertility and Gynaecology.
The research question is as follows: Are estrogen and progesterone receptor genotypes associated with thin endometrium? We performed a prospective cohort study of 129 patients who underwent preimplantation genetic testing for aneuploidies. These patients were categorized according to endometrial thickness: >7 mm control group (n = 94) and ≤7 mm study group (n = 35). Polymorphisms in the genes ESR1 (rs9340799 and rs3138774), ESR2 (rs1256049 and rs4986938), and PGR (rs1042838) were analyzed.
View Article and Find Full Text PDFEpilepsia
January 2025
Applied Translational Neurogenomics Group, Vlaams Instituut voor Biotechnology (VIB) Center for Molecular Neurology, VIB, Antwerp, Belgium.
Objective: This study aims to improve genetic diagnosis in childhood onset epilepsy with neurodevelopmental problems by utilizing RNA sequencing of fibroblasts to identify pathogenic variants that may be missed by exome sequencing and copy number variation analysis.
Methods: We enrolled 41 individuals with childhood onset epilepsy and neurodevelopmental problems who previously had inconclusive genetic testing. Fibroblast samples were cultured and analyzed using RNA sequencing to detect aberrant expression, aberrant splicing, and monoallelic expression using the Detection of RNA Outlier Pipeline (DROP) pipeline.
<b>Background and Objective:</b> Peatlands are unique ecosystems rich in microbial diversity, including bacteria with potential antibiotic activity. This study focuses on the isolation and characterization of bacteria from Indonesian peat soil, particularly their potential to produce antibiotics against multidrug-resistant (MDR) pathogens, including Methicillin-Resistant <i>Staphylococcus aureus</i> (MRSA). <b>Materials and Methods:</b> Bacterial isolates were rejuvenated on nutrient agar and subjected to antimicrobial activity testing using the Bauer & Kirby diffusion method against MRSA.
View Article and Find Full Text PDFEur J Neurol
February 2025
Faculty of Medical & Health Sciences, Tel Aviv University, Tel Aviv, Israel.
Background: Hereditary transthyretin (ATTRv) amyloidosis is a rare, adult-onset autosomal-dominant disorder caused by pathogenic variants in the transthyretin (TTR) gene. Data about relevant variants in specific populations and typical initial manifestations may facilitate early diagnosis and treatment. We here describe the genetic landscape of ATTRv amyloidosis in Israel.
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