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Page 1
Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease.
Jiao Y, Truong T, Eon-Marchais S, Mebirouk N, Caputo SM, Dondon MG, Karimi M, Le Gal D, Beauvallet J, Le Floch É, Dandine-Roulland C, Bacq-Daian D, Olaso R, Albuisson J, Audebert-Bellanger S, Berthet P, Bonadona V, Buecher B, Caron O, Cavaillé M, Chiesa J, Colas C, Collonge-Rame MA, Coupier I, Delnatte C, De Pauw A, Dreyfus H, Fert-Ferrer S, Gauthier-Villars M, Gesta P, Giraud S, Gladieff L, Golmard L, Lasset C, Lejeune-Dumoulin S, Léoné M, Limacher JM, Lortholary A, Luporsi É, Mari V, Maugard CM, Mortemousque I, Mouret-Fourme E, Nambot S, Noguès C, Popovici C, Prieur F, Pujol P, Sevenet N, Sobol H, Toulas C, Uhrhammer N, Vaur D, Venat L, Boland-Augé A, Guénel P, Deleuze JF, Stoppa-Lyonnet D, Andrieu N, Lesueur F. Jiao Y, et al. Among authors: caputo sm. Eur J Cancer. 2023 Jan;179:76-86. doi: 10.1016/j.ejca.2022.11.007. Epub 2022 Nov 13. Eur J Cancer. 2023. PMID: 36509001 Free article.
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. 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. Among authors: caputo s. J Med Genet. 2012 Aug;49(8):525-32. doi: 10.1136/jmedgenet-2012-101037. J Med Genet. 2012. PMID: 22889855 Free PMC article.
Breast Cancer Risk Associated with Estrogen Exposure and Truncating Mutation Location in BRCA1/2 Carriers.
Lecarpentier J, Noguès C, Mouret-Fourme E, Buecher B, Gauthier-Villars M, Stoppa-Lyonnet D, Bonadona V, Fricker JP, Berthet P, Caron O, Coupier I, Pujol P, Faivre L, Gesta P, Eisinger F, Mari V, Gladieff L, Lortholary A, Luporsi E, Leroux D, Venat-Bouvet L, Maugard CM, Colas C, Tinat J, Lasset C, Andrieu N; GENEPSO. Lecarpentier J, et al. Cancer Epidemiol Biomarkers Prev. 2015 Apr;24(4):698-707. doi: 10.1158/1055-9965.EPI-14-0884. Epub 2015 Jan 22. Cancer Epidemiol Biomarkers Prev. 2015. PMID: 25613119
Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations.
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 MH, Rouleau E, de Pauw A, Gauthier-Villars M, Buecher B, Bézieau S, Stoppa-Lyonnet D, Houdayer C. Golmard L, et al. Oncogene. 2016 Mar 10;35(10):1324-7. doi: 10.1038/onc.2015.181. Epub 2015 Jun 1. Oncogene. 2016. PMID: 26028024
BRCA Share: A Collection of Clinical BRCA Gene Variants.
Béroud C, Letovsky SI, Braastad CD, Caputo SM, Beaudoux O, Bignon YJ, Bressac-De Paillerets B, Bronner M, Buell CM, Collod-Béroud G, Coulet F, Derive N, Divincenzo C, Elzinga CD, Garrec C, Houdayer C, Karbassi I, Lizard S, Love A, Muller D, Nagan N, Nery CR, Rai G, Revillion F, Salgado D, Sévenet N, Sinilnikova O, Sobol H, Stoppa-Lyonnet D, Toulas C, Trautman E, Vaur D, Vilquin P, Weymouth KS, Willis A; Laboratory Corporation of America Variant Classification Group; Quest Diagnostics Variant Classification Group; UNICANCER Genetic Group BRCA Laboratory Network; Eisenberg M, Strom CM. Béroud C, et al. Among authors: caputo sm. Hum Mutat. 2016 Dec;37(12):1318-1328. doi: 10.1002/humu.23113. Epub 2016 Sep 28. Hum Mutat. 2016. PMID: 27633797 Free article.
Assessment of the functional impact of germline BRCA1/2 variants located in non-coding regions in families with breast and/or ovarian cancer predisposition.
Dos Santos ES, Caputo SM, Castera L, Gendrot M, Briaux A, Breault M, Krieger S, Rogan PK, Mucaki EJ, Burke LJ; ENIGMA consortium; Bièche I, Houdayer C, Vaur D, Stoppa-Lyonnet D, Brown MA, Lallemand F, Rouleau E. Dos Santos ES, et al. Among authors: caputo sm. Breast Cancer Res Treat. 2018 Apr;168(2):311-325. doi: 10.1007/s10549-017-4602-0. Epub 2017 Dec 13. Breast Cancer Res Treat. 2018. PMID: 29236234
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, Leslie G, Aalfs CM, Abugattas J, Adlard J, Agata S, Aittomäki K, Andrews L, Andrulis IL, Arason A, Arnold N, Arun BK, Asseryanis E, Auerbach L, Azzollini J, Balmaña J, Barile M, Barkardottir RB, Barrowdale D, Benitez J, Berger A, Berger R, Blanco AM, Blazer KR, Blok MJ, Bonadona V, Bonanni B, Bradbury AR, Brewer C, Buecher B, Buys SS, Caldes T, Caliebe A, Caligo MA, Campbell I, Caputo SM, Chiquette J, Chung WK, Claes KBM, Collée JM, Cook J, Davidson R, de la Hoya M, De Leeneer K, de Pauw A, Delnatte C, Diez O, Ding YC, Ditsch N, Domchek SM, Dorfling CM, Velazquez C, Dworniczak B, Eason J, Easton DF, Eeles R, Ehrencrona H, Ejlertsen B; EMBRACE; Engel C, Engert S, Evans DG, Faivre L, Feliubadaló L, Ferrer SF, Foretova L, Fowler J, Frost D, Galvão HCR, Ganz PA, Garber J, Gauthier-Villars M, Gehrig A; GEMO Study Collaborators; Gerdes AM, Gesta P, Giannini G, Giraud S, Glendon G, Godwin AK, Greene MH, Gronwald J, Gutierrez-Barrera A, Hahnen E, … See abstract for full author list ➔ Rebbeck TR, et al. Among authors: caputo sm. Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12. Hum Mutat. 2018. PMID: 29446198 Free PMC article.
61 results