Search

Your search keyword '"Gesta, P."' showing total 4 results
Start Over Author "Gesta, P." Journal oncogene
4 results on '"Gesta, P."'

3. Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations

Author

Golmard, L, primary, Delnatte, C, additional, Laugé, A, additional, Moncoutier, V, additional, Lefol, C, additional, Abidallah, K, additional, Tenreiro, H, additional, Copigny, F, additional, Giraudeau, M, additional, Guy, C, additional, Barbaroux, C, additional, Amorim, G, additional, Briaux, A, additional, Guibert, V, additional, Tarabeux, J, additional, Caputo, S, additional, Collet, A, additional, Gesta, P, additional, Ingster, O, additional, Stern, M-H, additional, Rouleau, E, additional, de Pauw, A, additional, Gauthier-Villars, M, additional, Buecher, B, additional, Bézieau, S, additional, Stoppa-Lyonnet, D, additional, and Houdayer, C, additional

Published
2015
Full Text
View/download PDF

4. Breast and ovarian cancer predisposition due to de novo BRCA1and BRCA2mutations

Author

Golmard, L, Delnatte, C, Laugé, A, Moncoutier, V, Lefol, C, Abidallah, K, Tenreiro, H, Copigny, F, Giraudeau, M, Guy, C, Barbaroux, C, Amorim, G, Briaux, A, Guibert, V, Tarabeux, J, Caputo, S, Collet, A, Gesta, P, Ingster, O, Stern, M-H, Rouleau, E, de Pauw, A, Gauthier-Villars, M, Buecher, B, Bézieau, S, Stoppa-Lyonnet, D, and Houdayer, C

Abstract

BRCA1and BRCA2are the two major genes predisposing to breast and ovarian cancer. Whereas high de novomutation rates have been demonstrated for several genes, only 11 cases of de novo BRCA1/2mutations have been reported to date and the BRCA1/2 de novomutation rate remains unknown. The present study was designed to fill this gap based on a series of 12 805 consecutive unrelated patients diagnosed with breast and/or ovarian cancer who met the inclusion criteria for BRCA1/2gene analysis according to French guidelines. BRCA1/2mutations were detected in 1527 (12%) patients, and three BRCA1mutations and one BRCA2mutation were de novo. The BRCA1/2 de novomutation rate was estimated to be 0.3% (0.1%; 0.7%). Although rare, it may be useful to take the possibility of de novo BRCA1/2mutation into account in genetic counseling of relatives and to improve the understanding of complex family histories of breast and ovarian cancers.

Published
2016
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results