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Page 1
Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.
Cox DG, Simard J, Sinnett D, Hamdi Y, Soucy P, Ouimet M, Barjhoux L, Verny-Pierre C, McGuffog L, Healey S, Szabo C, Greene MH, Mai PL, Andrulis IL; Ontario Cancer Genetics Network; Thomassen M, Gerdes AM, Caligo MA, Friedman E, Laitman Y, Kaufman B, Paluch SS, Borg Å, Karlsson P, Askmalm MS, Bustinza GB; SWE-BRCA Collaborators; Nathanson KL, Domchek SM, Rebbeck TR, Benítez J, Hamann U, Rookus MA, van den Ouweland AM, Ausems MG, Aalfs CM, van Asperen CJ, Devilee P, Gille HJ; HEBON; EMBRACE; Peock S, Frost D, Evans DG, Eeles R, Izatt L, Adlard J, Paterson J, Eason J, Godwin AK, Remon MA, Moncoutier V, Gauthier-Villars M, Lasset C, Giraud S, Hardouin A, Berthet P, Sobol H, Eisinger F, Bressac de Paillerets B, Caron O, Delnatte C; GEMO Study Collaborators; Goldgar D, Miron A, Ozcelik H, Buys S, Southey MC, Terry MB; Breast Cancer Family Registry; Singer CF, Dressler AC, Tea MK, Hansen TV, Johannsson O, Piedmonte M, Rodriguez GC, Basil JB, Blank S, Toland AE, Montagna M, Isaacs C, Blanco I, Gayther SA, Moysich KB, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch N, Arnold N, Niederacher D, Sutter C, Gadzicki D, Fiebig B, Caldes T, Laframboise R, Nevanlinna H, Chen X, Beesley J… See abstract for full author list ➔ Cox DG, et al. Hum Mol Genet. 2011 Dec 1;20(23):4732-47. doi: 10.1093/hmg/ddr388. Epub 2011 Sep 2. Hum Mol Genet. 2011. PMID: 21890493 Free PMC article.
Knowledge, acceptability and personal attitude toward pre-implantation 1 genetic testing (PGT) and pre-natal diagnosis (PND) for females carrying BRCA pathogenic variant according to fertility preservation experience.
Dervin T, Ranisavjevic N, Laot L, Mayeur A, Duperier C, Steffann J, Borghese R, Stoppa-Lyonnet D, Frydman N, Benachi A, Sonigo C, Grynberg M. Dervin T, et al. J Assist Reprod Genet. 2023 Jun;40(6):1381-1390. doi: 10.1007/s10815-023-02798-9. Epub 2023 May 8. J Assist Reprod Genet. 2023. PMID: 37154838 Free PMC article.
[Precision medicine in oncology: A reality… without equity].
Pénault-Llorca F, Audigier-Valette C, Lamy PJ, Stoppa Lyonnet D, Camparo P, Beaupère S, Troussard X, Gueroult Accolas L, Raymond G, Auday A, Blay JY, Sarkozy F. Pénault-Llorca F, et al. Among authors: stoppa lyonnet d. Bull Cancer. 2024 Oct 8:S0007-4551(24)00304-7. doi: 10.1016/j.bulcan.2024.08.008. Online ahead of print. Bull Cancer. 2024. PMID: 39384522 French.
ATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignancies.
Elitzur S, Shiloh R, Loeffen JLC, Pastorczak A, Takagi M, Bomken S, Baruchel A, Lehrnbecher T, Tasian SK, Abla O, Arad-Cohen N, Astigarraga I, Ben-Harosh M, Bodmer N, Brozou T, Ceppi F, Chugaeva L, Dalla Pozza L, Ducassou S, Escherich G, Farah R, Gibson A, Hasle H, Hoveyan J, Jacoby E, Jazbec J, Junk S, Kolenova A, Lazic J, Lo Nigro L, Mahlaoui N, Miller L, Papadakis V, Pecheux L, Pillon M, Sarouk I, Stary J, Stiakaki E, Strullu M, Tran TH, Ussowicz M, Verdu-Amoros J, Wakulinska A, Zawitkowska J, Stoppa-Lyonnet D, Taylor AM, Shiloh Y, Izraeli S, Minard-Colin V, Schmiegelow K, Nirel R, Attarbaschi A, Borkhardt A. Elitzur S, et al. Among authors: stoppa lyonnet d. Blood. 2024 Sep 12;144(11):1193-1205. doi: 10.1182/blood.2024024283. Blood. 2024. PMID: 38917355
Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers.
Yang X, Mooij TM, Leslie G, Ficorella L, Andrieu N, Kast K, Singer CF, Jakubowska A, van Gils CH, Tan YY, Engel C, Adank MA, van Asperen CJ, Ausems MGEM, Berthet P; EMBRACE collaborators; Collee MJ, Cook JA, Eason J, Spaendonck-Zwarts KYV, Evans DG, Gómez García EB, Hanson H, Izatt L, Kemp Z, Lalloo F, Lasset C, Lesueur F, Musgrave H, Nambot S, Noguès C, Oosterwijk JC, Stoppa-Lyonnet D, Tischkowitz M, Tripathi V, Wevers MR, Zhao E, van Leeuwen FE, Schmidt MK, Easton DF, Rookus MA, Antoniou AC. Yang X, et al. Among authors: stoppa lyonnet d. J Med Genet. 2024 Jul 19;61(8):803-809. doi: 10.1136/jmg-2024-109943. J Med Genet. 2024. PMID: 38834293 Free PMC article.
Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk.
Barnes DR, Tyrer JP, Dennis J, Leslie G, Bolla MK, Lush M, Aeilts AM, Aittomäki K, Andrieu N, Andrulis IL, Anton-Culver H, Arason A, Arun BK, Balmaña J, Bandera EV, Barkardottir RB, Berger LPV, de Gonzalez AB, Berthet P, Białkowska K, Bjørge L, Blanco AM, Blok MJ, Bobolis KA, Bogdanova NV, Brenton JD, Butz H, Buys SS, Caligo MA, Campbell I, Castillo C, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators; Colonna SV, Cook LS, Daly MB, Dansonka-Mieszkowska A, de la Hoya M, deFazio A, DePersia A, Ding YC, Domchek SM, Dörk T, Einbeigi Z, Engel C, Evans DG, Foretova L, Fortner RT, Fostira F, Foti MC, Friedman E, Frone MN, Ganz PA, Gentry-Maharaj A, Glendon G, Godwin AK, González-Neira A, Greene MH, Gronwald J, Guerrieri-Gonzaga A, Hamann U, Hansen TVO, Harris HR, Hauke J, Heitz F, Hogervorst FBL, Hooning MJ, Hopper JL, Huff CD, Huntsman DG, Imyanitov EN; kConFab Investigators; Izatt L, Jakubowska A, James PA, Janavicius R, John EM, Kar S, Karlan BY, Kennedy CJ, Kiemeney LALM, Konstantopoulou I, Kupryjanczyk J, Laitman Y, Lavie O, Lawrenson K, Lester J, Lesueur F, Lopez-Pleguezuelos C, Mai PL, Manoukian S, May T, McNeish IA, Menon U, Milne RL, Modugno F, Mongiovi JM, Montagna M, … See abstract for full author list ➔ Barnes DR, et al. Among authors: stoppa lyonnet d. medRxiv [Preprint]. 2024 Mar 4:2024.02.29.24303243. doi: 10.1101/2024.02.29.24303243. medRxiv. 2024. PMID: 38496424 Free PMC article. Preprint.
Tumor mutational burden assessment and standardized bioinformatics approach using custom NGS panels in clinical routine.
Dupain C, Gutman T, Girard E, Kamoun C, Marret G, Castel-Ajgal Z, Sablin MP, Neuzillet C, Borcoman E, Hescot S, Callens C, Trabelsi-Grati O, Melaabi S, Vibert R, Antonio S, Franck C, Galut M, Guillou I, Halladjian M, Allory Y, Cyrta J, Romejon J, Frouin E, Stoppa-Lyonnet D, Wong J, Le Tourneau C, Bièche I, Servant N, Kamal M, Masliah-Planchon J. Dupain C, et al. Among authors: stoppa lyonnet d. BMC Biol. 2024 Feb 20;22(1):43. doi: 10.1186/s12915-024-01839-8. BMC Biol. 2024. PMID: 38378561 Free PMC article.
492 results