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Page 1
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: gesta p. 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.
The contribution of germline rearrangements to the spectrum of BRCA2 mutations.
Casilli F, Tournier I, Sinilnikova OM, Coulet F, Soubrier F, Houdayer C, Hardouin A, Berthet P, Sobol H, Bourdon V, Muller D, Fricker JP, Capoulade-Metay C, Chompret A, Nogues C, Mazoyer S, Chappuis P, Maillet P, Philippe C, Lortholary A, Gesta P, Bézieau S, Toulas C, Gladieff L, Maugard CM, Provencher DM, Dugast C, Delvincourt C, Nguyen TD, Faivre L, Bonadona V, Frébourg T, Lidereau R, Stoppa-Lyonnet D, Tosi M. Casilli F, et al. Among authors: gesta p. J Med Genet. 2006 Sep;43(9):e49. doi: 10.1136/jmg.2005.040212. J Med Genet. 2006. PMID: 16950820 Free PMC article.
Reproductive and hormonal factors, and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: results from the International BRCA1/2 Carrier Cohort Study.
Antoniou AC, Rookus M, Andrieu N, Brohet R, Chang-Claude J, Peock S, Cook M, Evans DG, Eeles R; EMBRACE; Nogues C, Faivre L, Gesta P; GENEPSO; van Leeuwen FE, Ausems MG, Osorio A; GEO-HEBON; Caldes T, Simard J, Lubinski J, Gerdes AM, Olah E, Fürhauser C, Olsson H, Arver B, Radice P, Easton DF, Goldgar DE. Antoniou AC, et al. Among authors: gesta p. Cancer Epidemiol Biomarkers Prev. 2009 Feb;18(2):601-10. doi: 10.1158/1055-9965.EPI-08-0546. Epub 2009 Feb 3. Cancer Epidemiol Biomarkers Prev. 2009. PMID: 19190154 Free article.
Molecular study of CEBPA in familial hematological malignancies.
El Abed R, Bourdon V, Huiart L, Eisinger F, Khelif A, Frenay M, Gesta P, Demange L, Dreyfus H, Bonadona V, Dugast C, Zattara H, Faivre L, Noguchi T, Sauvan R, Soua Z, Sobol H. El Abed R, et al. Among authors: gesta p. Fam Cancer. 2009;8(4):581-4. doi: 10.1007/s10689-009-9289-x. Fam Cancer. 2009. PMID: 19731081
Time to prophylactic surgery in BRCA1/2 carriers depends on psychological and other characteristics.
Julian-Reynier C, Bouhnik AD, Mouret-Fourme E, Gauthier-Villars M, Berthet P, Lasset C, Fricker JP, Caron O, Gesta P, Luporsi E, Faivre L, Longy M, Gladieff L, Frenay M, Dreyfus H, Sobol H, Vennin P, Nogués C. Julian-Reynier C, et al. Among authors: gesta p. Genet Med. 2010 Dec;12(12):801-7. doi: 10.1097/GIM.0b013e3181f48d1c. Genet Med. 2010. PMID: 20921896 Free article.
Variation in breast cancer risk with mutation position, smoking, alcohol, and chest X-ray history, in the French National BRCA1/2 carrier cohort (GENEPSO).
Lecarpentier J, Noguès C, Mouret-Fourme E, Stoppa-Lyonnet D, Lasset C, Caron O, Fricker JP, Gladieff L, Faivre L, Sobol H, Gesta P, Frenay M, Luporsi E, Coupier I; GENEPSO; Lidereau R, Andrieu N. Lecarpentier J, et al. Among authors: gesta p. Breast Cancer Res Treat. 2011 Dec;130(3):927-38. doi: 10.1007/s10549-011-1655-3. Epub 2011 Jul 15. Breast Cancer Res Treat. 2011. PMID: 21761160
Molecular study of the perforin gene in familial hematological malignancies.
El Abed R, Bourdon V, Voskoboinik I, Omri H, Youssef YB, Laatiri MA, Huiart L, Eisinger F, Rabayrol L, Frenay M, Gesta P, Demange L, Dreyfus H, Bonadona V, Dugast C, Zattara H, Faivre L, Zaier M, Jemni SY, Noguchi T, Sobol H, Soua Z. El Abed R, et al. Among authors: gesta p. Hered Cancer Clin Pract. 2011 Sep 21;9(1):9. doi: 10.1186/1897-4287-9-9. Hered Cancer Clin Pract. 2011. PMID: 21936944 Free PMC article.
Uptake of a randomized breast cancer prevention trial comparing letrozole to placebo in BRCA1/2 mutations carriers: the LIBER trial.
Pujol P, Lasset C, Berthet P, Dugast C, Delaloge S, Fricker JP, Tennevet I, Chabbert-Buffet N, This P, Baudry K, Lemonnier J, Roca L, Mijonnet S, Gesta P, Chiesa J, Dreyfus H, Vennin P, Delnatte C, Bignon YJ, Lortholary A, Prieur F, Gladieff L, Lesur A, Clough KB, Nogues C, Martin AL; French Federation of Cancer Centres (FNCLCC). Pujol P, et al. Among authors: gesta p. Fam Cancer. 2012 Mar;11(1):77-84. doi: 10.1007/s10689-011-9484-4. Fam Cancer. 2012. PMID: 22076253 Clinical Trial.
BRCA1/2 carriers: their childbearing plans and theoretical intentions about having preimplantation genetic diagnosis and prenatal diagnosis.
Julian-Reynier C, Fabre R, Coupier I, Stoppa-Lyonnet D, Lasset C, Caron O, Mouret-Fourme E, Berthet P, Faivre L, Frenay M, Gesta P, Gladieff L, Bouhnik AD, Protière C, Noguès C. Julian-Reynier C, et al. Among authors: gesta p. Genet Med. 2012 May;14(5):527-34. doi: 10.1038/gim.2011.27. Epub 2012 Jan 12. Genet Med. 2012. PMID: 22241105 Free PMC article.
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