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531 results

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Page 1
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2.
O'Mahony DG, Ramus SJ, Southey MC, Meagher NS, Hadjisavvas A, John EM, Hamann U, Imyanitov EN, Andrulis IL, Sharma P, Daly MB, Hake CR, Weitzel JN, Jakubowska A, Godwin AK, Arason A, Bane A, Simard J, Soucy P, Caligo MA, Mai PL, Claes KBM, Teixeira MR, Chung WK, Lazaro C, Hulick PJ, Toland AE, Pedersen IS; HEBON Investigators; Neuhausen SL, Vega A, de la Hoya M, Nevanlinna H, Dhawan M, Zampiga V, Danesi R, Varesco L, Gismondi V, Vellone VG, James PA, Janavicius R, Nikitina-Zake L, Nielsen FC, van Overeem Hansen T, Pejovic T, Borg A, Rantala J, Offit K, Montagna M, Nathanson KL, Domchek SM, Osorio A, García MJ, Karlan BY; GEMO Study Collaborators; De Fazio A, Bowtell D; AOCS Group; McGuffog L, Leslie G, Parsons MT, Dörk T, Speith LM, Dos Santos ES, da Costa AABA, Radice P, Peterlongo P, Papi L, Engel C, Hahnen E, Schmutzler RK, Wappenschmidt B, Easton DF, Tischkowitz M, Singer CF, Tan YY, Whittemore AS, Sieh W, Brenton JD, Yannoukakos D, Fostira F, Konstantopoulou I, Soukupova J, Vocka M; CZECANCA Consortium; Chenevix-Trench G, Pharoah PDP, Antoniou AC, Goldgar DE, Spurdle AB, Michailidou K; Consortium of Investigators of Modifiers of BRCA1/2; Evidence-based Network for the … See abstract for full author list ➔ O'Mahony DG, et al. Among authors: osorio a. Br J Cancer. 2023 Jun;128(12):2283-2294. doi: 10.1038/s41416-023-02263-5. Epub 2023 Apr 19. Br J Cancer. 2023. PMID: 37076566 Free PMC article.
An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers.
Osorio A, Pollán M, Pita G, Schmutzler RK, Versmold B, Engel C, Meindl A, Arnold N, Preisler-Adams S, Niederacher D, Hofmann W, Gadzicki D, Jakubowska A, Hamann U, Lubinski J, Toloczko-Grabarek A, Cybulski C, Debniak T, Llort G, Yannoukakos D, Díez O, Peissel B, Peterlongo P, Radice P, Heikkinen T, Nevanlinna H, Mai PL, Loud JT, McGuffog L, Antoniou AC, Benitez J; CIMBA. Osorio A, et al. Br J Cancer. 2008 Sep 16;99(6):974-7. doi: 10.1038/sj.bjc.6604624. Br J Cancer. 2008. PMID: 18781154 Free PMC article.
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Hakkaart C, Pearson JF, Marquart L, Dennis J, Wiggins GAR, Barnes DR, Robinson BA, Mace PD, Aittomäki K, Andrulis IL, Arun BK, Azzollini J, Balmaña J, Barkardottir RB, Belhadj S, Berger L, Blok MJ, Boonen SE, Borde J, Bradbury AR, Brunet J, Buys SS, Caligo MA, Campbell I, Chung WK, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators; Collonge-Rame MA, Cook J, Cosgrove C, Couch FJ, Daly MB, Dandiker S, Davidson R, de la Hoya M, de Putter R, Delnatte C, Dhawan M, Diez O, Ding YC, Domchek SM, Donaldson A, Eason J, Easton DF, Ehrencrona H, Engel C, Evans DG, Faust U, Feliubadaló L, Fostira F, Friedman E, Frone M, Frost D, Garber J, Gayther SA, Gehrig A, Gesta P, Godwin AK, Goldgar DE, Greene MH, Hahnen E, Hake CR, Hamann U, Hansen TVO, Hauke J, Hentschel J, Herold N, Honisch E, Hulick PJ, Imyanitov EN; SWE-BRCA Investigators; kConFab Investigators; HEBON Investigators; Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James PA, Janavicius R, John EM, Joseph V, Karlan BY, Kemp Z, Kirk J, Konstantopoulou I, Koudijs M, Kwong A, Laitman Y, Lalloo F, Lasset C, Lautrup C, Lazaro C, Legrand C, Leslie G, Lesueur F, Mai PL, Manoukian S, Mari V, Martens JWM, McGuffog L, Mebirouk N, Meindl A,… See abstract for full author list ➔ Hakkaart C, et al. Among authors: osorio a. Commun Biol. 2022 Oct 6;5(1):1061. doi: 10.1038/s42003-022-03978-6. Commun Biol. 2022. PMID: 36203093 Free PMC article.
Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA).
Osorio A, Milne RL, Pita G, Peterlongo P, Heikkinen T, Simard J, Chenevix-Trench G, Spurdle AB, Beesley J, Chen X, Healey S; KConFab; Neuhausen SL, Ding YC, Couch FJ, Wang X, Lindor N, Manoukian S, Barile M, Viel A, Tizzoni L, Szabo CI, Foretova L, Zikan M, Claes K, Greene MH, Mai P, Rennert G, Lejbkowicz F, Barnett-Griness O, Andrulis IL, Ozcelik H, Weerasooriya N; OCGN; Gerdes AM, Thomassen M, Cruger DG, Caligo MA, Friedman E, Kaufman B, Laitman Y, Cohen S, Kontorovich T, Gershoni-Baruch R, Dagan E, Jernström H, Askmalm MS, Arver B, Malmer B; SWE-BRCA; Domchek SM, Nathanson KL, Brunet J, Ramón Y Cajal T, Yannoukakos D, Hamann U; HEBON; Hogervorst FB, Verhoef S, Gómez García EB, Wijnen JT, van den Ouweland A; EMBRACE; Easton DF, Peock S, Cook M, Oliver CT, Frost D, Luccarini C, Evans DG, Lalloo F, Eeles R, Pichert G, Cook J, Hodgson S, Morrison PJ, Douglas F, Godwin AK; GEMO; Sinilnikova OM, Barjhoux L, Stoppa-Lyonnet D, Moncoutier V, Giraud S, Cassini C, Olivier-Faivre L, Révillion F, Peyrat JP, Muller D, Fricker JP, Lynch HT, John EM, Buys S, Daly M, Hopper JL, Terry MB, Miron A, Yassin Y, Goldgar D; Breast Cancer Family Registry; Singer CF, Gschwantler-Kaulich D, Pfeile… See abstract for full author list ➔ Osorio A, et al. Br J Cancer. 2009 Dec 15;101(12):2048-54. doi: 10.1038/sj.bjc.6605416. Epub 2009 Nov 17. Br J Cancer. 2009. PMID: 19920816 Free PMC article.
Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2.
Osorio A, Milne RL, Alonso R, Pita G, Peterlongo P, Teulé A, Nathanson KL, Domchek SM, Rebbeck T, Lasa A, Konstantopoulou I, Hogervorst FB, Verhoef S, van Dooren MF, Jager A, Ausems MG, Aalfs CM, van Asperen CJ, Vreeswijk M, Waisfisz Q, Van Roozendaal CE, Ligtenberg MJ; HEBON; EMBRACE; Easton DF, Peock S, Cook M, Oliver CT, Frost D, Curzon B, Evans DG, Lalloo F, Eeles R, Izatt L, Davidson R, Adlard J, Eccles D, Ong KR, Douglas F, Downing S, Brewer C, Walker L, Nevanlinna H, Aittomäki K, Couch FJ, Fredericksen Z, Lindor NM, Godwin A, Isaacs C, Caligo MA, Loman N, Jernström H, Barbany-Bustinza G, Liljegren A, Ehrencrona H, Stenmark-Askmalm M; Sw E-BRCA; Feliubadaló L, Manoukian S, Peissel B, Zaffaroni D, Bonanni B, Fortuzzi S, Johannsson OT, Chenevix-Trench G, Chen XC, Beesley J, Spurdle AB; kConFab; Sinilnikova OM, Healey S, McGuffog L, Antoniou AC, Brunet J, Radice P, Benítez J; CIMBA. Osorio A, et al. Br J Cancer. 2011 Apr 12;104(8):1356-61. doi: 10.1038/bjc.2011.91. Epub 2011 Mar 22. Br J Cancer. 2011. PMID: 21427728 Free PMC article.
Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study.
Jakubowska A, Rozkrut D, Antoniou A, Hamann U, Scott RJ, McGuffog L, Healy S, Sinilnikova OM, Rennert G, Lejbkowicz F, Flugelman A, Andrulis IL, Glendon G, Ozcelik H; OCGN; Thomassen M, Paligo M, Aretini P; SWE-BRCA; Kantala J, Aroer B, von Wachenfeldt A, Liljegren A, Loman N, Herbst K, Kristoffersson U, Rosenquist R, Karlsson P, Stenmark-Askmalm M, Melin B, Nathanson KL, Domchek SM, Byrski T, Huzarski T, Gronwald J, Menkiszak J, Cybulski C, Serrano P, Osorio A, Cajal TR, Tsitlaidou M, Benítez J, Gilbert M; HEBON; Rookus M, Aalfs CM, Kluijt I, Boessenkool-Pape JL, Meijers-Heijboer HE, Oosterwijk JC, van Asperen CJ, Blok MJ, Nelen MR, van den Ouweland AM, Seynaeve C, van der Luijt RB, Devilee P; EMBRACE; Easton DF, Peock S, Frost D, Platte R, Ellis SD, Fineberg E, Evans DG, Lalloo F, Eeles R, Jacobs C, Adlard J, Davidson R, Eccles D, Cole T, Cook J, Godwin A, Bove B; GEMO Study Collaborators; Stoppa-Lyonnet D, Caux-Moncoutier V, Belotti M, Tirapo C, Mazoyer S, Barjhoux L, Boutry-Kryza N, Pujol P, Coupier I, Peyrat JP, Vennin P, Muller D, Fricker JP, Venat-Bouvet L, Johannsson OT, Isaacs C, Schmutzler R, Wappenschmidt B, Meindl A, Arnold N, Varon-Mateeva R, Niederacher D, Sut… See abstract for full author list ➔ Jakubowska A, et al. Among authors: osorio a. Br J Cancer. 2012 Jun 5;106(12):2016-24. doi: 10.1038/bjc.2012.160. Epub 2012 May 15. Br J Cancer. 2012. PMID: 22669161 Free PMC article.
Polygenic risk modeling for prediction of epithelial ovarian cancer risk.
Dareng EO, Tyrer JP, Barnes DR, Jones MR, Yang X, Aben KKH, Adank MA, Agata S, Andrulis IL, Anton-Culver H, Antonenkova NN, Aravantinos G, Arun BK, Augustinsson A, Balmaña J, Bandera EV, Barkardottir RB, Barrowdale D, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini MQ, Bjorge L, Black A, Bogdanova NV, Bonanni B, Borg A, Brenton JD, Budzilowska A, Butzow R, Buys SS, Cai H, Caligo MA, Campbell I, Cannioto R, Cassingham H, Chang-Claude J, Chanock SJ, Chen K, Chiew YE, Chung WK, Claes KBM, Colonna S; GEMO Study Collaborators; GC-HBOC Study Collaborators; EMBRACE Collaborators; Cook LS, Couch FJ, Daly MB, Dao F, Davies E, de la Hoya M, de Putter R, Dennis J, DePersia A, Devilee P, Diez O, Ding YC, Doherty JA, Domchek SM, Dörk T, du Bois A, Dürst M, Eccles DM, Eliassen HA, Engel C, Evans GD, Fasching PA, Flanagan JM, Fortner RT, Machackova E, Friedman E, Ganz PA, Garber J, Gensini F, Giles GG, Glendon G, Godwin AK, Goodman MT, Greene MH, Gronwald J; OPAL Study Group; AOCS Group; Hahnen E, Haiman CA, Håkansson N, Hamann U, Hansen TVO, Harris HR, Hartman M, Heitz F, Hildebrandt MAT, Høgdall E, Høgdall CK, Hopper JL, Huang RY, Huff C, Hulick PJ, Huntsman DG, Imyanitov EN… See abstract for full author list ➔ Dareng EO, et al. Among authors: osorio a. Eur J Hum Genet. 2022 Mar;30(3):349-362. doi: 10.1038/s41431-021-00987-7. Epub 2022 Jan 14. Eur J Hum Genet. 2022. PMID: 35027648 Free PMC article.
Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk.
Dareng EO, Tyrer JP, Barnes DR, Jones MR, Yang X, Aben KKH, Adank MA, Agata S, Andrulis IL, Anton-Culver H, Antonenkova NN, Aravantinos G, Arun BK, Augustinsson A, Balmaña J, Bandera EV, Barkardottir RB, Barrowdale D, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini MQ, Bjorge L, Black A, Bogdanova NV, Bonanni B, Borg A, Brenton JD, Budzilowska A, Butzow R, Buys SS, Cai H, Caligo MA, Campbell I, Cannioto R, Cassingham H, Chang-Claude J, Chanock SJ, Chen K, Chiew YE, Chung WK, Claes KBM, Colonna S; GEMO Study Collaborators; GC-HBOC Study Collaborators; EMBRACE Collaborators; Cook LS, Couch FJ, Daly MB, Dao F, Davies E, de la Hoya M, de Putter R, Dennis J, DePersia A, Devilee P, Diez O, Ding YC, Doherty JA, Domchek SM, Dörk T, du Bois A, Dürst M, Eccles DM, Eliassen HA, Engel C, Evans GD, Fasching PA, Flanagan JM, Fortner RT, Machackova E, Friedman E, Ganz PA, Garber J, Gensini F, Giles GG, Glendon G, Godwin AK, Goodman MT, Greene MH, Gronwald J; OPAL Study Group; AOCS Group; Hahnen E, Haiman CA, Håkansson N, Hamann U, Hansen TVO, Harris HR, Hartman M, Heitz F, Hildebrandt MAT, Høgdall E, Høgdall CK, Hopper JL, Huang RY, Huff C, Hulick PJ, Huntsman DG, Imyanitov EN… See abstract for full author list ➔ Dareng EO, et al. Among authors: osorio a. Eur J Hum Genet. 2022 May;30(5):630-631. doi: 10.1038/s41431-022-01085-y. Eur J Hum Genet. 2022. PMID: 35314806 Free PMC article. No abstract available.
Increased FOXJ1 protein expression is associated with improved overall survival in high-grade serous ovarian carcinoma: an Ovarian Tumor Tissue Analysis Consortium Study.
Weir A, Kang EY, Meagher NS, Nelson GS, Ghatage P, Lee CH, Riggan MJ, Gentry-Maharaj A, Ryan A, Singh N, Widschwendter M, Alsop J, Anglesio MS, Beckmann MW, Berger J, Bisinotto C, Boros J, Brand AH, Brenton JD, Brooks-Wilson A, Carney ME, Cunningham JM, Cushing-Haugen KL, Cybulski C, Elishaev E, Erber R, Fereday S, Fischer A, Paz-Ares L, Gayarre J, Gilks BC, Grube M, Harnett PR, Harris HR, Hartmann A, Hein A, Hendley J, Hernandez BY, Heublein S, Huang Y, Huzarski T, Jakubowska A, Jimenez-Linan M, Kennedy CJ, Kommoss FKF, Koziak JM, Kraemer B, Le ND, Lesnock J, Lester J, Lubiński J, Menkiszak J, Ney B, Olawaiye A, Orsulic S, Osorio A, Robles-Díaz L, Ruebner M, Shah M, Sharma R, Shvetsov YB, Steed H, Talhouk A, Taylor SE, Traficante N, Vierkant RA, Wang C, Wilkens LR, Winham SJ, Benitez J, Berchuck A, Bowtell DD, Candido Dos Reis FJ, Cook LS, DeFazio A; AOCs group; Doherty JA, Fasching PA, García MJ, Goode EL, Goodman MT, Gronwald J, Huntsman DG, Karlan BY, Kommoss S, Modugno F, Schildkraut JM, Sinn HP, Staebler A, Kelemen LE, Ford CE, Menon U, Pharoah PDP, Köbel M, Ramus SJ. Weir A, et al. Among authors: osorio a. Br J Cancer. 2023 Jan;128(1):137-147. doi: 10.1038/s41416-022-02014-y. Epub 2022 Nov 2. Br J Cancer. 2023. PMID: 36323878 Free PMC article.
The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.
Sinilnikova OM, Antoniou AC, Simard J, Healey S, Léoné M, Sinnett D, Spurdle AB, Beesley J, Chen X; kConFab; Greene MH, Loud JT, Lejbkowicz F, Rennert G, Dishon S, Andrulis IL; OCGN; Domchek SM, Nathanson KL, Manoukian S, Radice P, Konstantopoulou I, Blanco I, Laborde AL, Durán M, Osorio A, Benitez J, Hamann U, Hogervorst FB, van Os TA, Gille HJ; HEBON; Peock S, Cook M, Luccarini C, Evans DG, Lalloo F, Eeles R, Pichert G, Davidson R, Cole T, Cook J, Paterson J, Brewer C; EMBRACE; Hughes DJ, Coupier I, Giraud S, Coulet F, Colas C, Soubrier F, Rouleau E, Bièche I, Lidereau R, Demange L, Nogues C, Lynch HT; GEMO; Schmutzler RK, Versmold B, Engel C, Meindl A, Arnold N, Sutter C, Deissler H, Schaefer D, Froster UG; GC-HBOC; Aittomäki K, Nevanlinna H, McGuffog L, Easton DF, Chenevix-Trench G, Stoppa-Lyonnet D; Consortium of Investigators of Modifiers of BRCA1/2. Sinilnikova OM, et al. Among authors: osorio a. Br J Cancer. 2009 Oct 20;101(8):1456-60. doi: 10.1038/sj.bjc.6605279. Epub 2009 Aug 25. Br J Cancer. 2009. PMID: 19707196 Free PMC article.
531 results