If familial hereditary tumor is suspected, diagnosis and treatment should always be performed considering the presence of familial hereditary tumors irrespective of whether genetic testing is performed.
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http://dx.doi.org/10.1002/ccr3.2698 | DOI Listing |
Gastroenterol Clin North Am
March 2025
Karsh Division of Gastroenterology and Hepatology, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, ST, Suite 7705, Los Angeles, CA 90048, USA. Electronic address:
Pancreatic cancer, often diagnosed at advanced stages, has poor survival rates. Effective screening aims to detect the disease early, improving outcomes. Current guidelines recommend screening high-risk groups, including those with a family history or genetic predispositions, using methods like endoscopic ultrasound and MRI.
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.
View Article and Find Full Text PDFClin Park Relat Disord
January 2025
Cerebrovascular Unit Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy.
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary small vessel disease caused by mutations in the NOTCH3 gene, characterized by recurrent strokes, cognitive decline, and psychiatric symptoms. This report presents a novel NOTCH3 c.1564 T > A (p.
View Article and Find Full Text PDFBMC Cancer
January 2025
Faculty of Medicine, University of Cologne and Institute for Health Economics and Clinical Epidemiology, University Hospital Cologne, Cologne, Germany.
Background: Patients who actively engage in their medical decision-making processes can experience better health outcomes. This exploratory study aimed to identify predictors of preferred and actual roles in decision-making in healthy women with BRCA1/2 pathogenic variants (PVs).
Methods: Women with BRCA1/2 PVs without a history of breast and/or ovarian cancer were recruited in six centres across Germany.
BMJ Case Rep
January 2025
Department of Periodontology, King George's Medical University, Lucknow, Uttar Pradesh, India.
Amelogenesis imperfecta (AI) is a genetic disorder that affects both primary and permanent teeth. It primarily manifests as developmental disorders of enamel. The condition occurs independently of other systemic disorders and is caused by mutations in genes responsible for enamel formation, inherited in autosomal dominant, autosomal recessive or X-linked patterns.
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