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Your search keyword '"Lesueur F"' showing total 13 results
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13 results on '"Lesueur F"'

2. Rare Mutations in XRCC2 Increase the Risk of Breast Cancer

Author

Park, D.J., Lesueur, F., Nguyen-Dumont, T., Pertesi, M., Odefrey, F., Hammet, F., Neuhausen, S.L., John, E.M., Andrulis, I.L., Terry, M.B., Daly, M., Buys, S., Calvez-Kelm, F. le, Lonie, A., Pope, B.J., Tsimiklis, H., Voegele, C., Hilbers, F.M., Hoogerbrugge, N., Barroso, A., Osorio, A., Giles, G.G., Devilee, P., Benitez, J., Hopper, J.L., Tavtigian, S.V., Goldgar, D.E., Southey, M.C., Breast Canc Family Registry, and Kathleen Cuningham Fdn Consortium

Subjects
Adult, Male, Risk, Hereditary cancer and cancer-related syndromes Genetics and epigenetic pathways of disease [ONCOL 1], Population, Breast Neoplasms, Biology, medicine.disease_cause, Germline mutation, Breast cancer, Report, Genetics, medicine, Humans, Missense mutation, Exome, Genetic Predisposition to Disease, Genetics(clinical), Homologous Recombination, education, Genetics (clinical), education.field_of_study, Mutation, Massive parallel sequencing, Hereditary cancer and cancer-related syndromes [ONCOL 1], Middle Aged, medicine.disease, Pedigree, DNA-Binding Proteins, Case-Control Studies, RAD51C, Female
Abstract

Item does not contain fulltext An exome-sequencing study of families with multiple breast-cancer-affected individuals identified two families with XRCC2 mutations, one with a protein-truncating mutation and one with a probably deleterious missense mutation. We performed a population-based case-control mutation-screening study that identified six probably pathogenic coding variants in 1,308 cases with early-onset breast cancer and no variants in 1,120 controls (the severity grading was p < 0.02). We also performed additional mutation screening in 689 multiple-case families. We identified ten breast-cancer-affected families with protein-truncating or probably deleterious rare missense variants in XRCC2. Our identification of XRCC2 as a breast cancer susceptibility gene thus increases the proportion of breast cancers that are associated with homologous recombination-DNA-repair dysfunction and Fanconi anemia and could therefore benefit from specific targeted treatments such as PARP (poly ADP ribose polymerase) inhibitors. This study demonstrates the power of massively parallel sequencing for discovering susceptibility genes for common, complex diseases.

Published
2012

3. Recommandations pour le diagnostic de prédisposition génétique au mélanome cutané et pour la prise en charge des personnes à risque

Author

Avril, M.-F., primary, Bahadoran, P., additional, Cabaret, O., additional, Caron, O., additional, de la Fouchardière, A., additional, Demenais, F., additional, Desjardins, L., additional, Frébourg, T., additional, Hammel, P., additional, Leccia, M.-T., additional, Lesueur, F., additional, Mahé, E., additional, Martin, L., additional, Maubec, E., additional, Remenieras, A., additional, Richard, S., additional, Robert, C., additional, Soufir, N., additional, Stoppa-Lyonnet, D., additional, Thomas, L., additional, Vabres, P., additional, and Bressac- de Paillerets, B., additional

Published
2015
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