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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: houdayer c. 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
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. Among authors: houdayer c. Oncogene. 2016 Mar 10;35(10):1324-7. doi: 10.1038/onc.2015.181. Epub 2015 Jun 1. Oncogene. 2016. PMID: 26028024
Contribution of CDKN2A/P16 ( INK4A ), P14 (ARF), CDK4 and BRCA1/2 germline mutations in individuals with suspected genetic predisposition to uveal melanoma.
Buecher B, Gauthier-Villars M, Desjardins L, Lumbroso-Le Rouic L, Levy C, De Pauw A, Bombled J, Tirapo C, Houdayer C, Bressac-de Paillerets B, Stoppa-Lyonnet D. Buecher B, et al. Among authors: houdayer c. Fam Cancer. 2010 Dec;9(4):663-7. doi: 10.1007/s10689-010-9379-9. Fam Cancer. 2010. PMID: 20842456
Lack of referral for genetic counseling and testing in BRCA1/2 and Lynch syndromes: a nationwide study based on 240,134 consultations and 134,652 genetic tests.
Pujol P, Lyonnet DS, Frebourg T, Blin J, Picot MC, Lasset C, Dugast C, Berthet P, de Paillerets BB, Sobol H, Grandjouan S, Soubrier F, Buecher B, Guimbaud R, Lidereau R, Jonveaux P, Houdayer C, Giraud S, Olschwang S, Nogue E, Galibert V, Bara C, Nowak F, Khayat D, Nogues C. Pujol P, et al. Among authors: houdayer c. Breast Cancer Res Treat. 2013 Aug;141(1):135-44. doi: 10.1007/s10549-013-2669-9. Epub 2013 Aug 24. Breast Cancer Res Treat. 2013. PMID: 23974829
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: houdayer c. J Med Genet. 2006 Sep;43(9):e49. doi: 10.1136/jmg.2005.040212. J Med Genet. 2006. PMID: 16950820 Free PMC article.
Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers.
Wang X, Pankratz VS, Fredericksen Z, Tarrell R, Karaus M, McGuffog L, Pharaoh PD, Ponder BA, Dunning AM, Peock S, Cook M, Oliver C, Frost D; EMBRACE; Sinilnikova OM, Stoppa-Lyonnet D, Mazoyer S, Houdayer C; GEMO; Hogervorst FB, Hooning MJ, Ligtenberg MJ; HEBON; Spurdle A, Chenevix-Trench G; kConFab; Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Domchek SM, Nathanson KL, Rebbeck TR, Singer CF, Gschwantler-Kaulich D, Dressler C, Fink A, Szabo CI, Zikan M, Foretova L, Claes K, Thomas G, Hoover RN, Hunter DJ, Chanock SJ, Easton DF, Antoniou AC, Couch FJ. Wang X, et al. Among authors: houdayer c. Hum Mol Genet. 2010 Jul 15;19(14):2886-97. doi: 10.1093/hmg/ddq174. Epub 2010 Apr 23. Hum Mol Genet. 2010. PMID: 20418484 Free PMC article.
Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.
Houdayer C, Gauthier-Villars M, Laugé A, Pagès-Berhouet S, Dehainault C, Caux-Moncoutier V, Karczynski P, Tosi M, Doz F, Desjardins L, Couturier J, Stoppa-Lyonnet D. Houdayer C, et al. Hum Mutat. 2004 Feb;23(2):193-202. doi: 10.1002/humu.10303. Hum Mutat. 2004. PMID: 14722923
RB1 and TP53 pathways in radiation-induced sarcomas.
Gonin-Laurent N, Hadj-Hamou NS, Vogt N, Houdayer C, Gauthiers-Villars M, Dehainault C, Sastre-Garau X, Chevillard S, Malfoy B. Gonin-Laurent N, et al. Among authors: houdayer c. Oncogene. 2007 Sep 6;26(41):6106-12. doi: 10.1038/sj.onc.1210404. Epub 2007 Mar 19. Oncogene. 2007. PMID: 17369843
201 results