Identification of a potential genetic susceptibility to cancer and confirmation of a pathogenic gene mutation raises a number of challenging issues for the patient with cancer, their relatives and the health professionals caring for them. The specific risks and management issues associated with rare cancer types have been addressed in the earlier chapters. This chapter considers the wider issues involved in genetic counselling and genetic testing for a genetic susceptibility to cancer for patients, families and health professionals. The first part of the chapter will present the issues raised by the current practice in genetic counselling and genetic testing for cancer susceptibility. The second part of the chapter will address some of the issues raised by the advances in genetic testing technology and the future opportunities provided by personalised medicine and targeted cancer therapy. Facilitating these developments requires closer integration of genomics into mainstream cancer care, challenging the existing paradigm of genetic medicine, adding additional layers of complexity to the risk assessment and management of cancer and presenting wider issues for patients, families, health professionals and clinical services.
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http://dx.doi.org/10.1007/978-3-319-29998-3_12 | DOI Listing |
Genet Med
January 2025
Lipids and Atherosclerosis Laboratory, Department of Medicine and Dermatology, Centro de Investigaciones Médico Sanitarias (CIMES), Instituto de Investigación Biomédica de Málaga y Plataforma en Nanomedicina (IBIMA -Plataforma Bionand), University of Málaga, Málaga, Spain; Lipid Unit. Internal Medicine Service. University Hospital Virgen de la Victoria, Málaga, Spain.
Purpose: Genetic testing is required to confirm a diagnosis of familial chylomicronemia syndrome (FCS). We assessed the pathogenicity of variants identified in the FCS canonical genes to diagnose FCS cases.
Methods: 245 patients with severe hypertriglyceridemia underwent next-generation sequencing.
Clin Cosmet Investig Dermatol
January 2025
Lugansk state medical University, Department of Pathology, Rivne, Ukraine.
Introduction: Marie-Unna hereditary hypotrichosis (MUHH) is an autosomal dominant disorder characterized by a specific pattern of hair loss. Initially described in 1925 by Marie-Unna in a German family spanning over seven generations, MUHH represents a previously unidentified form of congenital hypotrichosis. It typically presents as sparse hair at birth with a coarse texture, followed by regrowth during childhood then, finally, gradual hair loss at puberty, resembling pattern of androgenetic alopecia.
View Article and Find Full Text PDFNeuropsychiatr Dis Treat
January 2025
Department of Neurology, Affiliated Hospital of Jining Medical University, Jining, Shandong, 272029, People's Republic of China.
Background: The clinical pictures of essential tremor (ET) and Parkinson's disease (PD) are often quite mimic at the early stage, and longstanding ET may ultimately develop to PD, that is, PD with "antecedent ET". Early diagnosis and differentiation of the two are essential for predicting disease progression and formulating individualized treatment plans. However, current approaches remain challenging.
View Article and Find Full Text PDFWorld J Pediatr Congenit Heart Surg
January 2025
Division of Cardiothoracic Surgery, The Heart Institute, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
The authors present an exceptionally rare case of a newborn in whom total anomalous pulmonary venous return (TAPVR) had been diagnosed prenatally and in whom genetic testing after neonatal cardiac repair confirmed a missense variant of the gene consistent with Marfan syndrome as well as a gene mutation associated with severe combined immunodeficiency. To the authors' knowledge, this is the first reported case with this unique combination. Neonatal TAPVR repair was undertaken with a good postoperative outcome and survival until the last follow-up.
View Article and Find Full Text PDFJ Investig Med High Impact Case Rep
January 2025
Marshall University, Huntington, WV, USA.
Thrombotic microangiopathy (TMA) is a severe condition characterized by microangiopathic hemolytic anemia, thrombocytopenia, and end-organ damage, often involving the kidneys. Complement-mediated hemolytic uremic syndrome (cHUS), a rare form of TMA, arises from dysregulated alternative complement pathway activation, frequently due to genetic mutations. We report the case of a 23-year-old male presenting with TMA secondary to a heterozygous mutation in the membrane cofactor protein (MCP/CD46) gene.
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