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Brief Title: EXOme Rare Cancers in Children (EXOCARE)
Official Title: An Investigation of Susceptibility Genes for Rare Cancers in Children by Exome Sequencing
Study ID: NCT03472807
Brief Summary: Other than high-dose radiation and previous chemotherapy, few strong risk factors have been identified as causes of childhood cancer. Geneticists estimate that 5 to 10% of all cancers diagnosed during the paediatric period occur in children born with a genetic mutation, increasing their lifetime risk of neoplasia. Such genetic risk is higher in children with congenital anomalies and specific genetic syndromes. Some germline genetic alterations are well known (e.g. P53 protein (P53), Neurofibromatosis type 1(NF1)), however many children with none of these mutations have clinical presentations that strongly suggest the involvement of a genetic predisposition. Comprehensive genetic testing for all such patients is an important factor for improving disease surveillance. Such opportunities are now available thanks to whole exome sequencing (WES). In oncology, an important clinical application of WES will be to routinely identify mutations associated with inherited cancer predispositions and to guide cancer risk-management decisions. Our project is a national translational multicenter genetics study aimed at identifying genes involved in paediatric cancer predisposition by WES in a very select population of children with both developmental delay and cancer. Our project relies on the TED register (Tumeur Et Développement), an initiative by the French organisation SFCE (Société Française de lutte contre les Cancers et les leucémies de l'Enfant et de l'Adolescent) involving 30 child cancer units in France. This database includes the information of more than 500 paediatric cancer patients with congenital abnormalities. The investigators plan to sequence the germline and tumour exome of 100 patients with developmental delay in a trio-design consisting of 300 people and 100 tumours. The investigators believe that the ExoCaRe project will provide answers to the genetic origins of certain particular childhood cancers. The ExoCaRe project relies on a genetic study to identify genetic risk factors for rare forms of childhood cancer and aims to establish more personalised treatment. It is aimed at improving genetic counselling for families and will be fully integrated in the genetic counselling process. The information provided by our study will be used to improve the management approach to an initial cancer by clarifying the risks of other cancers in related families. The investigators hope to identify new germline genes predisposing to cancer that will be of interest in understanding tumour biology.
Detailed Description: -Primary objective : Our aim is to identify new mutations and genes involved in paediatric cancer predisposition associating developmental delay by WES of a sub-cohort of patients included in the TED database. -Secondary objectives : 1. Describe inherited predisposition to cancer. 2. Improve genetic counselling processes. 3. Initiate clinical exome sequencing in childhood cancer treatment.
Minimum Age:
Eligible Ages: CHILD, ADULT, OLDER_ADULT
Sex: ALL
Healthy Volunteers: No
University Hospital of Amiens, Amiens, , France
University Hospital of Angers, Angers, , France
Cancer Center Bergonie Institut, Bordeaux, , France
University Hospital of Bordeaux, Bordeaux, , France
University Hospital of Brest, Brest, , France
University Hospital of Clermont Ferrand, Clermont-Ferrand, , France
University Hospital of Dijon, Dijon, , France
University Hospital of Grenoble, Grenoble, , France
University Hospital of Lille, Lille, , France
University Hospital of Limoges, Limoges, , France
Institut of Haematology and Paediatric Oncology of Lyon, Lyon, , France
University Hospital of Marseille, Marseille, , France
University Hospital of Montpellier, Montpellier, , France
University Hospital of Nancy, Nancy, , France
University Hospital of Nantes, Nantes, , France
University Hospital of Nice, Nice, , France
Institut Curie, Paris, , France
University Hospital of Kremlin Bicetre, Paris, , France
University Hospital of Necker, Paris, , France
University Hospital of Trousseau, Paris, , France
University Hospital of Rennes, Rennes, , France
University Hospital of Rouen, Rouen, , France
University Hospital of Saint Etienne, Saint-Étienne, , France
University Hospital of Strasbourg, Strasbourg, , France
University Hospital of Tours, Tours, , France
Institut Gustave Roussy, Villejuif, , France
University Hospital of Saint Denis de La Reunion, Saint-Denis, , Réunion
Name: Isabelle PELLIER, Pr
Affiliation: UH Angers
Role: PRINCIPAL_INVESTIGATOR