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Page 1
The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases.
Figlioli G, Kvist A, Tham E, Soukupova J, Kleiblova P, Muranen TA, Andrieu N, Azzollini J, Balmaña J, Barroso A, Benítez J, Bertelsen B, Blanco A, Bonanni B, Borg Å, Brunet J, Calistri D, Calvello M, Chvojka S, Cortesi L, Darder E, Del Valle J, Diez O; ENIGMA Consortium; Eon-Marchais S, Fostira F; GENESIS Study Collaborators; Gensini F, Houdayer C, Janatova M, Kiiski JI, Konstantopoulou I, Kubelka-Sabit K, Lázaro C, Lesueur F, Manoukian S, Marcinkute R, Mickys U, Moncoutier V; SWE-BRCA Group; Myszka A, Nguyen-Dumont T, Nielsen FC, Norvilas R, Olah E, Osorio A, Papi L, Peissel B, Peixoto A, Plaseska-Karanfilska D, Pócza T, Rossing M, Rudaitis V, Santamariña M, Santos C, Smichkoska S, Southey MC, Stoppa-Lyonnet D, Teixeira M, Törngren T, Toss A, Urioste M, Vega A, Vlckova Z, Yannoukakos D, Zampiga V, Kleibl Z, Radice P, Nevanlinna H, Ehrencrona H, Janavicius R, Peterlongo P. Figlioli G, et al. Among authors: barroso a. Cancers (Basel). 2020 Jan 26;12(2):292. doi: 10.3390/cancers12020292. Cancers (Basel). 2020. PMID: 31991861 Free PMC article.
Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
Silvestri V, Leslie G, Barnes DR; CIMBA Group; Agnarsson BA, Aittomäki K, Alducci E, Andrulis IL, Barkardottir RB, Barroso A, Barrowdale D, Benitez J, Bonanni B, Borg A, Buys SS, Caldés T, Caligo MA, Capalbo C, Campbell I, Chung WK, Claes KBM, Colonna SV, Cortesi L, Couch FJ, de la Hoya M, Diez O, Ding YC, Domchek S, Easton DF, Ejlertsen B, Engel C, Evans DG, Feliubadalò L, Foretova L, Fostira F, Géczi L, Gerdes AM, Glendon G, Godwin AK, Goldgar DE, Hahnen E, Hogervorst FBL, Hopper JL, Hulick PJ, Isaacs C, Izquierdo A, James PA, Janavicius R, Jensen UB, John EM, Joseph V, Konstantopoulou I, Kurian AW, Kwong A, Landucci E, Lesueur F, Loud JT, Machackova E, Mai PL, Majidzadeh-A K, Manoukian S, Montagna M, Moserle L, Mulligan AM, Nathanson KL, Nevanlinna H, Ngeow J, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Osorio A, Papi L, Park SK, Pedersen IS, Perez-Segura P, Petersen AH, Pinto P, Porfirio B, Pujana MA, Radice P, Rantala J, Rashid MU, Rosenzweig B, Rossing M, Santamariña M, Schmutzler RK, Senter L, Simard J, Singer CF, Solano AR, Southey MC, Steele L, Steinsnyder Z, Stoppa-Lyonnet D, Tan YY, Teixeira MR, Teo SH, Terry MB, Thomassen M, Toland AE, Torres-Esquius S, Tung N… See abstract for full author list ➔ Silvestri V, et al. Among authors: barroso a. JAMA Oncol. 2020 Aug 1;6(8):1218-1230. doi: 10.1001/jamaoncol.2020.2134. JAMA Oncol. 2020. PMID: 32614418 Free PMC article.
Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition.
García MJ, Fernández V, Osorio A, Barroso A, Fernández F, Urioste M, Benítez J. García MJ, et al. Among authors: barroso a. Carcinogenesis. 2009 Nov;30(11):1898-902. doi: 10.1093/carcin/bgp218. Epub 2009 Sep 8. Carcinogenesis. 2009. PMID: 19737859
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: barroso a. Hum Mutat. 2013 Dec;34(12):1615-8. doi: 10.1002/humu.22438. Epub 2013 Oct 7. Hum Mutat. 2013. PMID: 24027083
Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness.
Patel VL, Busch EL, Friebel TM, Cronin A, Leslie G, McGuffog L, Adlard J, Agata S, Agnarsson BA, Ahmed M, Aittomäki K, Alducci E, Andrulis IL, Arason A, Arnold N, Artioli G, Arver B, Auber B, Azzollini J, Balmaña J, Barkardottir RB, Barnes DR, Barroso A, Barrowdale D, Belotti M, Benitez J, Bertelsen B, Blok MJ, Bodrogi I, Bonadona V, Bonanni B, Bondavalli D, Boonen SE, Borde J, Borg A, Bradbury AR, Brady A, Brewer C, Brunet J, Buecher B, Buys SS, Cabezas-Camarero S, Caldés T, Caliebe A, Caligo MA, Calvello M, Campbell IG, Carnevali I, Carrasco E, Chan TL, Chu ATW, Chung WK, Claes KBM, Collaborators GS, Collaborators E, Cook J, Cortesi L, Couch FJ, Daly MB, Damante G, Darder E, Davidson R, de la Hoya M, Puppa LD, Dennis J, Díez O, Ding YC, Ditsch N, Domchek SM, Donaldson A, Dworniczak B, Easton DF, Eccles DM, Eeles RA, Ehrencrona H, Ejlertsen B, Engel C, Evans DG, Faivre L, Faust U, Feliubadaló L, Foretova L, Fostira F, Fountzilas G, Frost D, García-Barberán V, Garre P, Gauthier-Villars M, Géczi L, Gehrig A, Gerdes AM, Gesta P, Giannini G, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gutierrez-Barrera AM, Hahnen E, Hamann U, Hauke J, Herold N, Hogervorst FBL, Honisch E, Hopp… See abstract for full author list ➔ Patel VL, et al. Among authors: barroso a. Cancer Res. 2020 Feb 1;80(3):624-638. doi: 10.1158/0008-5472.CAN-19-1840. Epub 2019 Nov 13. Cancer Res. 2020. PMID: 31723001 Free PMC article.
Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families.
García MJ, Fernández V, Osorio A, Barroso A, Llort G, Lázaro C, Blanco I, Caldés T, de la Hoya M, Ramón Y Cajal T, Alonso C, Tejada MI, San Román C, Robles-Díaz L, Urioste M, Benítez J. García MJ, et al. Among authors: barroso a. Breast Cancer Res Treat. 2009 Feb;113(3):545-51. doi: 10.1007/s10549-008-9945-0. Epub 2008 Feb 27. Breast Cancer Res Treat. 2009. PMID: 18302019
DNA repair capacity is impaired in healthy BRCA1 heterozygous mutation carriers.
Vaclová T, Gómez-López G, Setién F, Bueno JM, Macías JA, Barroso A, Urioste M, Esteller M, Benítez J, Osorio A. Vaclová T, et al. Among authors: barroso a. Breast Cancer Res Treat. 2015 Jul;152(2):271-82. doi: 10.1007/s10549-015-3459-3. Epub 2015 Jun 14. Breast Cancer Res Treat. 2015. PMID: 26071757
313 results