Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

1,164 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.
Caputo SM, Golmard L, Léone M, Damiola F, Guillaud-Bataille M, Revillion F, Rouleau E, Derive N, Buisson A, Basset N, Schwartz M, Vilquin P, Garrec C, Privat M, Gay-Bellile M, Abadie C, Abidallah K, Airaud F, Allary AS, Barouk-Simonet E, Belotti M, Benigni C, Benusiglio PR, Berthemin C, Berthet P, Bertrand O, Bézieau S, Bidart M, Bignon YJ, Birot AM, Blanluet M, Bloucard A, Bombled J, Bonadona V, Bonnet F, Bonnet-Dupeyron MN, Boulaire M, Boulouard F, Bouras A, Bourdon V, Brahimi A, Brayotel F, Bressac de Paillerets B, Bronnec N, Bubien V, Buecher B, Cabaret O, Carriere J, Chiesa J, Chieze-Valéro S, Cohen C, Cohen-Haguenauer O, Colas C, Collonge-Rame MA, Conoy AL, Coulet F, Coupier I, Crivelli L, Cusin V, De Pauw A, Dehainault C, Delhomelle H, Delnatte C, Demontety S, Denizeau P, Devulder P, Dreyfus H, d'Enghein CD, Dupré A, Durlach A, Dussart S, Fajac A, Fekairi S, Fert-Ferrer S, Fiévet A, Fouillet R, Mouret-Fourme E, Gauthier-Villars M, Gesta P, Giraud S, Gladieff L, Goldbarg V, Goussot V, Guibert V, Guillerm E, Guy C, Hardouin A, Heude C, Houdayer C, Ingster O, Jacquot-Sawka C, Jones N, Krieger S, Lacoste S, Lallaoui H, Larbre H, Laugé A, Le Guyadec G, Le Mentec M,… See abstract for full author list ➔ Caputo SM, et al. Among authors: bonnet dupeyron mn, bonnet f. Am J Hum Genet. 2021 Oct 7;108(10):1907-1923. doi: 10.1016/j.ajhg.2021.09.003. Epub 2021 Sep 30. Am J Hum Genet. 2021. PMID: 34597585 Free PMC article.
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.
Houdayer C, Caux-Moncoutier V, Krieger S, Barrois M, Bonnet F, Bourdon V, Bronner M, Buisson M, Coulet F, Gaildrat P, Lefol C, Léone M, Mazoyer S, Muller D, Remenieras A, Révillion F, Rouleau E, Sokolowska J, Vert JP, Lidereau R, Soubrier F, Sobol H, Sevenet N, Bressac-de Paillerets B, Hardouin A, Tosi M, Sinilnikova OM, Stoppa-Lyonnet D. Houdayer C, et al. Among authors: bonnet f. Hum Mutat. 2012 Aug;33(8):1228-38. doi: 10.1002/humu.22101. Epub 2012 May 11. Hum Mutat. 2012. PMID: 22505045
Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer.
Davy G, Rousselin A, Goardon N, Castéra L, Harter V, Legros A, Muller E, Fouillet R, Brault B, Smirnova AS, Lemoine F, de la Grange P, Guillaud-Bataille M, Caux-Moncoutier V, Houdayer C, Bonnet F, Blanc-Fournier C, Gaildrat P, Frebourg T, Martins A, Vaur D, Krieger S. Davy G, et al. Among authors: bonnet f. Eur J Hum Genet. 2017 Oct;25(10):1147-1154. doi: 10.1038/ejhg.2017.116. Epub 2017 Jul 26. Eur J Hum Genet. 2017. PMID: 28905878 Free PMC article.
A new hybrid record linkage process to make epidemiological databases interoperable: application to the GEMO and GENEPSO studies involving BRCA1 and BRCA2 mutation carriers.
Jiao Y, Lesueur F, Azencott CA, Laurent M, Mebirouk N, Laborde L, Beauvallet J, Dondon MG, Eon-Marchais S, Laugé A; GEMO Study Collaborators; GENEPSO Study Collaborators; Noguès C, Andrieu N, Stoppa-Lyonnet D, Caputo SM. Jiao Y, et al. BMC Med Res Methodol. 2021 Jul 29;21(1):155. doi: 10.1186/s12874-021-01299-6. BMC Med Res Methodol. 2021. PMID: 34325649 Free PMC article.
PTEN alterations in sporadic and BRCA1-associated triple negative breast carcinomas.
Jones N, Gros A, Velasco V, Dapremont V, Brouste V, Gastaldello B, Debled M, Tunon de Lara C, Bonnet F, Barouk-Simonet E, Bubien V, Venat L, MacGrogan G, Longy M, Sevenet N. Jones N, et al. Among authors: bonnet f. Cancer Genet. 2022 Jun;264-265:8-15. doi: 10.1016/j.cancergen.2022.02.008. Epub 2022 Feb 25. Cancer Genet. 2022. PMID: 35263698
Rare germline large rearrangements in the BRCA1/2 genes and eight candidate genes in 472 patients with breast cancer predisposition.
Rouleau E, Jesson B, Briaux A, Nogues C, Chabaud V, Demange L, Sokolowska J, Coulet F, Barouk-Simonet E, Bignon YJ, Bonnet F, Bourdon V, Bronner M, Caputo S, Castera L, Delnatte C, Delvincourt C, Fournier J, Hardouin A, Muller D, Peyrat JP, Toulas C, Uhrhammer N, Vidal V, Stoppa-Lyonnet D, Bieche I, Lidereau R. Rouleau E, et al. Among authors: bonnet f. Breast Cancer Res Treat. 2012 Jun;133(3):1179-90. doi: 10.1007/s10549-012-2009-5. Epub 2012 Apr 5. Breast Cancer Res Treat. 2012. PMID: 22476849
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.
Spurdle AB, Whiley PJ, Thompson B, Feng B, Healey S, Brown MA, Pettigrew C; kConFab; Van Asperen CJ, Ausems MG, Kattentidt-Mouravieva AA, van den Ouweland AM; Dutch Belgium UV Consortium; Lindblom A, Pigg MH, Schmutzler RK, Engel C, Meindl A; German Consortium of Hereditary Breast and Ovarian Cancer; Caputo S, Sinilnikova OM, Lidereau R; French COVAR group collaborators; Couch FJ, Guidugli L, Hansen Tv, Thomassen M, Eccles DM, Tucker K, Benitez J, Domchek SM, Toland AE, Van Rensburg EJ, Wappenschmidt B, Borg Å, Vreeswijk MP, Goldgar DE; ENIGMA Consortium. Spurdle AB, et al. J Med Genet. 2012 Aug;49(8):525-32. doi: 10.1136/jmedgenet-2012-101037. J Med Genet. 2012. PMID: 22889855 Free PMC article.
1,164 results