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Page 1
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.
Figlioli G, Bogliolo M, Catucci I, Caleca L, Lasheras SV, Pujol R, Kiiski JI, Muranen TA, Barnes DR, Dennis J, Michailidou K, Bolla MK, Leslie G, Aalfs CM; ABCTB Investigators; Adank MA, Adlard J, Agata S, Cadoo K, Agnarsson BA, Ahearn T, Aittomäki K, Ambrosone CB, Andrews L, Anton-Culver H, Antonenkova NN, Arndt V, Arnold N, Aronson KJ, Arun BK, Asseryanis E, Auber B, Auvinen P, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Beane Freeman LE, Beauparlant CJ, Beckmann MW, Behrens S, Benitez J, Berger R, Bermisheva M, Blanco AM, Blomqvist C, Bogdanova NV, Bojesen A, Bojesen SE, Bonanni B, Borg A, Brady AF, Brauch H, Brenner H, Brüning T, Burwinkel B, Buys SS, Caldés T, Caliebe A, Caligo MA, Campa D, Campbell IG, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Claes KBM, Clarke CL, Collavoli A, Conner TA, Cox DG, Cybulski C, Czene K, Daly MB, de la Hoya M, Devilee P, Diez O, Ding YC, Dite GS, Ditsch N, Domchek SM, Dorfling CM, Dos-Santos-Silva I, Durda K, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Ellberg C, Eriksson M, Evans DG, Fasching PA, Figueroa J, Flyger H, Foulkes WD, Friebel TM, Friedman E, Gabrielson M, Gaddam P, Gago-Dominguez M, Gao C, Gapstu… See abstract for full author list ➔ Figlioli G, et al. Among authors: bogliolo m. NPJ Breast Cancer. 2019 Nov 1;5:38. doi: 10.1038/s41523-019-0127-5. eCollection 2019. NPJ Breast Cancer. 2019. PMID: 31700994 Free PMC article.
Exploring the link between MORF4L1 and risk of breast cancer.
Martrat G, Maxwell CM, Tominaga E, Porta-de-la-Riva M, Bonifaci N, Gómez-Baldó L, Bogliolo M, Lázaro C, Blanco I, Brunet J, Aguilar H, Fernández-Rodríguez J, Seal S, Renwick A, Rahman N, Kühl J, Neveling K, Schindler D, Ramírez MJ, Castellà M, Hernández G; EMBRACE; Easton DF, Peock S, Cook M, Oliver CT, Frost D, Platte R, Evans DG, Lalloo F, Eeles R, Izatt L, Chu C, Davidson R, Ong KR, Cook J, Douglas F, Hodgson S, Brewer C, Morrison PJ, Porteous M, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Roversi G, Barile M, Viel A, Pasini B, Ottini L, Putignano AL, Savarese A, Bernard L, Radice P, Healey S, Spurdle A, Chen X, Beesley J; kConFab; Rookus MA, Verhoef S, Tilanus-Linthorst MA, Vreeswijk MP, Asperen CJ, Bodmer D, Ausems MG, van Os TA, Blok MJ, Meijers-Heijboer HE, Hogervorst FB; HEBON; Goldgar DE, Buys S, John EM, Miron A, Southey M, Daly MB; BCFR; SWE-BRCA; Harbst K, Borg A, Rantala J, Barbany-Bustinza G, Ehrencrona H, Stenmark-Askmalm M, Kaufman B, Laitman Y, Milgrom R, Friedman E, Domchek SM, Nathanson KL, Rebbeck TR, Johannsson OT, Couch FJ, Wang X, Fredericksen Z, Cuadras D, Moreno V, Pientka FK, Depping R, Caldés T, Osorio A, Benítez J, Bueren J, Heikkinen T, N… See abstract for full author list ➔ Martrat G, et al. Among authors: bogliolo m. Breast Cancer Res. 2011 Apr 5;13(2):R40. doi: 10.1186/bcr2862. Breast Cancer Res. 2011. PMID: 21466675 Free PMC article.
On the role of FAN1 in Fanconi anemia.
Trujillo JP, Mina LB, Pujol R, Bogliolo M, Andrieux J, Holder M, Schuster B, Schindler D, Surrallés J. Trujillo JP, et al. Among authors: bogliolo m. Blood. 2012 Jul 5;120(1):86-9. doi: 10.1182/blood-2012-04-420604. Epub 2012 May 18. Blood. 2012. PMID: 22611161 Free article.
Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.
Bogliolo M, Schuster B, Stoepker C, Derkunt B, Su Y, Raams A, Trujillo JP, Minguillón J, Ramírez MJ, Pujol R, Casado JA, Baños R, Rio P, Knies K, Zúñiga S, Benítez J, Bueren JA, Jaspers NG, Schärer OD, de Winter JP, Schindler D, Surrallés J. Bogliolo M, et al. Am J Hum Genet. 2013 May 2;92(5):800-6. doi: 10.1016/j.ajhg.2013.04.002. Epub 2013 Apr 25. Am J Hum Genet. 2013. PMID: 23623386 Free PMC article.
Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles.
Osorio A, Bogliolo M, Fernández V, Barroso A, de la Hoya M, Caldés T, Lasa A, Ramón y Cajal T, Santamariña M, Vega A, Quiles F, Lázaro C, Díez O, Fernández D, González-Sarmiento R, Durán M, Piqueras JF, Marín M, Pujol R, Surrallés J, Benítez J. Osorio A, et al. Among authors: bogliolo m. Hum Mutat. 2013 Dec;34(12):1615-8. doi: 10.1002/humu.22438. Epub 2013 Oct 7. Hum Mutat. 2013. PMID: 24027083
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
Peterlongo P, Catucci I, Colombo M, Caleca L, Mucaki E, Bogliolo M, Marin M, Damiola F, Bernard L, Pensotti V, Volorio S, Dall'Olio V, Meindl A, Bartram C, Sutter C, Surowy H, Sornin V, Dondon MG, Eon-Marchais S, Stoppa-Lyonnet D, Andrieu N, Sinilnikova OM; GENESIS; Mitchell G, James PA, Thompson E; kConFab; SWE-BRCA; Marchetti M, Verzeroli C, Tartari C, Capone GL, Putignano AL, Genuardi M, Medici V, Marchi I, Federico M, Tognazzo S, Matricardi L, Agata S, Dolcetti R, Della Puppa L, Cini G, Gismondi V, Viassolo V, Perfumo C, Mencarelli MA, Baldassarri M, Peissel B, Roversi G, Silvestri V, Rizzolo P, Spina F, Vivanet C, Tibiletti MG, Caligo MA, Gambino G, Tommasi S, Pilato B, Tondini C, Corna C, Bonanni B, Barile M, Osorio A, Benitez J, Balestrino L, Ottini L, Manoukian S, Pierotti MA, Renieri A, Varesco L, Couch FJ, Wang X, Devilee P, Hilbers FS, van Asperen CJ, Viel A, Montagna M, Cortesi L, Diez O, Balmaña J, Hauke J, Schmutzler RK, Papi L, Pujana MA, Lázaro C, Falanga A, Offit K, Vijai J, Campbell I, Burwinkel B, Kvist A, Ehrencrona H, Mazoyer S, Pizzamiglio S, Verderio P, Surralles J, Rogan PK, Radice P. Peterlongo P, et al. Among authors: bogliolo m. Hum Mol Genet. 2015 Sep 15;24(18):5345-55. doi: 10.1093/hmg/ddv251. Epub 2015 Jun 30. Hum Mol Genet. 2015. PMID: 26130695 Free PMC article.
47 results