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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, Lecerf C, Le … See abstract for full author list ➔ Caputo SM, et al. Among authors: limacher jm. 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.
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.
Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation.
Ribeiro Guerra M, Coignard J, Eon-Marchais S, Dondon MG, Le Gal D, Beauvallet J, Mebirouk N, Belotti M, Caron O, Gauthier-Villars M, Coupier I, Buecher B, Lortholary A, Fricker JP, Gesta P, Noguès C, Faivre L, Berthet P, Luporsi E, Delnatte C, Bonadona V, Maugard CM, Pujol P, Lasset C, Longy M, Bignon YJ, Adenis-Lavignasse C, Venat-Bouvet L, Dreyfus H, Gladieff L, Mortemousque I, Audebert-Bellanger S, Soubrier F, Giraud S, Lejeune-Dumoulin S, Limacher JM, Chiesa J, Fajac A, Floquet A, Eisinger F, Tinat J, Fert-Ferrer S, Colas C, Frebourg T, Damiola F, Barjhoux L, Cavaciuti E, Mazoyer S, Tardivon A, Lesueur F, Stoppa-Lyonnet D, Andrieu N. Ribeiro Guerra M, et al. Among authors: limacher jm. Breast Cancer Res. 2021 Aug 3;23(1):79. doi: 10.1186/s13058-021-01456-1. Breast Cancer Res. 2021. PMID: 34344426 Free PMC article.
GENESIS: a French national resource to study the missing heritability of breast cancer.
Sinilnikova OM, Dondon MG, Eon-Marchais S, Damiola F, Barjhoux L, Marcou M, Verny-Pierre C, Sornin V, Toulemonde L, Beauvallet J, Le Gal D, Mebirouk N, Belotti M, Caron O, Gauthier-Villars M, Coupier I, Buecher B, Lortholary A, Dugast C, Gesta P, Fricker JP, Noguès C, Faivre L, Luporsi E, Berthet P, Delnatte C, Bonadona V, Maugard CM, Pujol P, Lasset C, Longy M, Bignon YJ, Adenis C, Venat-Bouvet L, Demange L, Dreyfus H, Frenay M, Gladieff L, Mortemousque I, Audebert-Bellanger S, Soubrier F, Giraud S, Lejeune-Dumoulin S, Chevrier A, Limacher JM, Chiesa J, Fajac A, Floquet A, Eisinger F, Tinat J, Colas C, Fert-Ferrer S, Penet C, Frebourg T, Collonge-Rame MA, Barouk-Simonet E, Layet V, Leroux D, Cohen-Haguenauer O, Prieur F, Mouret-Fourme E, Cornélis F, Jonveaux P, Bera O, Cavaciuti E, Tardivon A, Lesueur F, Mazoyer S, Stoppa-Lyonnet D, Andrieu N. Sinilnikova OM, et al. Among authors: limacher jm. BMC Cancer. 2016 Jan 12;16:13. doi: 10.1186/s12885-015-2028-9. BMC Cancer. 2016. PMID: 26758370 Free PMC article.
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.
Girard E, Eon-Marchais S, Olaso R, Renault AL, Damiola F, Dondon MG, Barjhoux L, Goidin D, Meyer V, Le Gal D, Beauvallet J, Mebirouk N, Lonjou C, Coignard J, Marcou M, Cavaciuti E, Baulard C, Bihoreau MT, Cohen-Haguenauer O, Leroux D, Penet C, Fert-Ferrer S, Colas C, Frebourg T, Eisinger F, Adenis C, Fajac A, Gladieff L, Tinat J, Floquet A, Chiesa J, Giraud S, Mortemousque I, Soubrier F, Audebert-Bellanger S, Limacher JM, Lasset C, Lejeune-Dumoulin S, Dreyfus H, Bignon YJ, Longy M, Pujol P, Venat-Bouvet L, Bonadona V, Berthet P, Luporsi E, Maugard CM, Noguès C, Delnatte C, Fricker JP, Gesta P, Faivre L, Lortholary A, Buecher B, Caron O, Gauthier-Villars M, Coupier I, Servant N, Boland A, Mazoyer S, Deleuze JF, Stoppa-Lyonnet D, Andrieu N, Lesueur F. Girard E, et al. Among authors: limacher jm. Int J Cancer. 2019 Apr 15;144(8):1962-1974. doi: 10.1002/ijc.31921. Epub 2018 Nov 13. Int J Cancer. 2019. PMID: 30303537 Free PMC article.
Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers.
Mavaddat N, Antoniou AC, Mooij TM, Hooning MJ, Heemskerk-Gerritsen BA; GENEPSO; Noguès C, Gauthier-Villars M, Caron O, Gesta P, Pujol P, Lortholary A; EMBRACE; Barrowdale D, Frost D, Evans DG, Izatt L, Adlard J, Eeles R, Brewer C, Tischkowitz M, Henderson A, Cook J, Eccles D; HEBON; van Engelen K, Mourits MJE, Ausems MGEM, Koppert LB, Hopper JL, John EM, Chung WK, Andrulis IL, Daly MB, Buys SS; kConFab Investigators; Benitez J, Caldes T, Jakubowska A, Simard J, Singer CF, Tan Y, Olah E, Navratilova M, Foretova L, Gerdes AM, Roos-Blom MJ, Van Leeuwen FE, Arver B, Olsson H, Schmutzler RK, Engel C, Kast K, Phillips KA, Terry MB, Milne RL, Goldgar DE, Rookus MA, Andrieu N, Easton DF; IBCCS; kConFab; BCFR. Mavaddat N, et al. Breast Cancer Res. 2020 Jan 16;22(1):8. doi: 10.1186/s13058-020-1247-4. Breast Cancer Res. 2020. PMID: 31948486 Free PMC article.
Gene- and pathway-level analyses of iCOGS variants highlight novel signaling pathways underlying familial breast cancer susceptibility.
Lonjou C, Eon-Marchais S, Truong T, Dondon MG, Karimi M, Jiao Y, Damiola F, Barjhoux L, Le Gal D, Beauvallet J, Mebirouk N, Cavaciuti E, Chiesa J, Floquet A, Audebert-Bellanger S, Giraud S, Frebourg T, Limacher JM, Gladieff L, Mortemousque I, Dreyfus H, Lejeune-Dumoulin S, Lasset C, Venat-Bouvet L, Bignon YJ, Pujol P, Maugard CM, Luporsi E, Bonadona V, Noguès C, Berthet P, Delnatte C, Gesta P, Lortholary A, Faivre L, Buecher B, Caron O, Gauthier-Villars M, Coupier I, Mazoyer S, Monraz LC, Kondratova M, Kuperstein I, Guénel P, Barillot E, Stoppa-Lyonnet D, Andrieu N, Lesueur F. Lonjou C, et al. Among authors: limacher jm. Int J Cancer. 2021 Apr 15;148(8):1895-1909. doi: 10.1002/ijc.33457. Epub 2021 Jan 9. Int J Cancer. 2021. PMID: 33368296 Free PMC article.
Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I.
Sebai M, Tulasne D, Caputo SM, Verkarre V, Fernandes M, Guérin C, Reinhart F, Adams S, Maugard C, Caron O, Guillaud-Bataille M, Berthet P, Bignon YJ, Bressac-de Paillerets B, Burnichon N, Chiesa J, Giraud S, Lejeune S, Limacher JM, de Pauw A, Stoppa-Lyonnet D, Zattara-Cannoni H, Deveaux S, Lidereau R, Richard S, Rouleau E. Sebai M, et al. Among authors: limacher jm. Hum Mutat. 2022 Mar;43(3):316-327. doi: 10.1002/humu.24313. Epub 2022 Jan 19. Hum Mutat. 2022. PMID: 34882875
Segregation of two BRCA1 mutations in a single family.
Stoppa-Lyonnet D, Fricker JP, Essioux L, Pages S, Limacher JM, Sobol H, Laurent-Puig P, Thomas G. Stoppa-Lyonnet D, et al. Among authors: limacher jm. Am J Hum Genet. 1996 Aug;59(2):479-81. Am J Hum Genet. 1996. PMID: 8755940 Free PMC article. No abstract available.
75 results