Sylvianne Olschwang

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Based on nationwide data from the French national cancer institute (INCa), we analyzed the evolution of cancer genetics consultations and testing over time, and the uptake of targeted tests in relatives of families with BRCA1/2 or MMR genes mutation. Genetic testing and consultations for familial high-risk individuals are exclusively funded and monitored by(More)
OBJECTIVE To retrospectively assess, in a pediatric multicenter cohort, guidelines for the management of familial adenomatous polyposis (FAP). METHODS Ten centers from the French-speaking Pediatric Gastroenterology Hepatology and Nutrition Group provided follow-up data on patients up to 18 years of age. Clinical records, genetic test results, endoscopy(More)
Although most gastrointestinal stromal tumours (GIST) carry oncogenic mutations in KIT exons 9, 11, 13 and 17, or in platelet-derived growth factor receptor alpha (PDGFRA) exons 12, 14 and 18, around 10% of GIST are free of these mutations. Genotyping and accurate detection of KIT/PDGFRA mutations in GIST are becoming increasingly useful for clinicians in(More)
Hereditary non-polyposis colorectal cancer (HNPCC) syndrome is a dominantly inherited condition, recognised by Lynch et al in 1966, associated with a major susceptibility to colorectal and endometrial cancer. The use of stringent criteria in the definition of the syndrome led to the initial identification of two genes, MSH2 and MLH1, which when mutated are(More)
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