Accurate classification of variants in cancer susceptibility genes (CSGs) is key for correct estimation of cancer risk and management of patients. Consistency in the weighting assigned to individual ...
Dr Mégarbané, Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, 42 rue de Grenelle, 75007 Paris, France. This kindred (fig 1) resides in southern Lebanon and belongs to the ...
1 Department of Pediatric Cardiology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel 2 Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center ...
Li-Fraumeni syndrome (LFS) is a high-risk hereditary cancer predisposition syndrome affecting 1 in 5000 individuals. Current ...
Background Molecular genetic diagnoses are critical to prevention and treatment of inherited polyposis and colorectal cancer.
4 Division of Nephrology and Dialysis, Department of Laboratory Medicine, Bambino Gesu’ Hospital, Rome, Italy 5 Molecular Medicine Unit, Department of Laboratory Medicine, Bambino Gesu’ Hospital, Rome ...
Correspondence to Professor Dr HFA Vasen, Department of Gastroenterology & Hepatology, Leiden University Medical Centre, Rijnsburgerweg 10, Leiden 2333 AA, The Netherlands; hfavasen{at}stoet.nl BTs ...
Correspondence to Dr Florian Erger, Institute of Human Genetics, University Hospital Cologne, 50931 Cologne, Nordrhein-Westfalen, Germany; florian.erger{at}uk-koeln.de Methods Affected individuals ...
Dr Driscoll, Pediatric Genetics, Box 100296, University of Florida College of Medicine, Gainesville, FL 32610-0296, USA,driscdj{at}peds.ufl.edu BACKGROUND Angelman syndrome (AS) is a severe ...
Correspondence to: Professor Moore Institute of Ophthalmology, University College London, 11–43 Bath Street, London EC1V 9EL, UK; tony.moore{at}ucl.ac.uk The inherited macular dystrophies comprise a ...
Correspondence to Dr Rando Allikmets, Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute Research Annex, 635 West 165th Street, Box # 28, New York, NY 10032, USA; rla22 ...
Background: Li–Fraumeni syndrome is an autosomal dominant cancer predisposition syndrome caused by germline mutations in the TP53 gene. The frequency of germline de novo TP53 mutations is largely ...
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