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Page 1
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. Among authors: lasa a. 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.
Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction.
Antoniou AC, Beesley J, McGuffog L, Sinilnikova OM, Healey S, Neuhausen SL, Ding YC, Rebbeck TR, Weitzel JN, Lynch HT, Isaacs C, Ganz PA, Tomlinson G, Olopade OI, Couch FJ, Wang X, Lindor NM, Pankratz VS, Radice P, Manoukian S, Peissel B, Zaffaroni D, Barile M, Viel A, Allavena A, Dall'Olio V, Peterlongo P, Szabo CI, Zikan M, Claes K, Poppe B, Foretova L, Mai PL, Greene MH, Rennert G, Lejbkowicz F, Glendon G, Ozcelik H, Andrulis IL; Ontario Cancer Genetics Network; Thomassen M, Gerdes AM, Sunde L, Cruger D, Birk Jensen U, Caligo M, Friedman E, Kaufman B, Laitman Y, Milgrom R, Dubrovsky M, Cohen S, Borg A, Jernström H, Lindblom A, Rantala J, Stenmark-Askmalm M, Melin B; SWE-BRCA; Nathanson K, Domchek S, Jakubowska A, Lubinski J, Huzarski T, Osorio A, Lasa A, Durán M, Tejada MI, Godino J, Benitez J, Hamann U, Kriege M, Hoogerbrugge N, van der Luijt RB, van Asperen CJ, Devilee P, Meijers-Heijboer EJ, Blok MJ, Aalfs CM, Hogervorst F, Rookus M; HEBON; Cook M, Oliver C, Frost D, Conroy D, Evans DG, Lalloo F, Pichert G, Davidson R, Cole T, Cook J, Paterson J, Hodgson S, Morrison PJ, Porteous ME, Walker L, Kennedy MJ, Dorkins H, Peock S; EMBRACE; Godwin AK, Stoppa-Lyonnet D, de Pau… See abstract for full author list ➔ Antoniou AC, et al. Among authors: lasa a. Cancer Res. 2010 Dec 1;70(23):9742-54. doi: 10.1158/0008-5472.CAN-10-1907. Epub 2010 Nov 30. Cancer Res. 2010. PMID: 21118973 Free PMC article.
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, Leslie G, Aalfs CM, Abugattas J, Adlard J, Agata S, Aittomäki K, Andrews L, Andrulis IL, Arason A, Arnold N, Arun BK, Asseryanis E, Auerbach L, Azzollini J, Balmaña J, Barile M, Barkardottir RB, Barrowdale D, Benitez J, Berger A, Berger R, Blanco AM, Blazer KR, Blok MJ, Bonadona V, Bonanni B, Bradbury AR, Brewer C, Buecher B, Buys SS, Caldes T, Caliebe A, Caligo MA, Campbell I, Caputo SM, Chiquette J, Chung WK, Claes KBM, Collée JM, Cook J, Davidson R, de la Hoya M, De Leeneer K, de Pauw A, Delnatte C, Diez O, Ding YC, Ditsch N, Domchek SM, Dorfling CM, Velazquez C, Dworniczak B, Eason J, Easton DF, Eeles R, Ehrencrona H, Ejlertsen B; EMBRACE; Engel C, Engert S, Evans DG, Faivre L, Feliubadaló L, Ferrer SF, Foretova L, Fowler J, Frost D, Galvão HCR, Ganz PA, Garber J, Gauthier-Villars M, Gehrig A; GEMO Study Collaborators; Gerdes AM, Gesta P, Giannini G, Giraud S, Glendon G, Godwin AK, Greene MH, Gronwald J, Gutierrez-Barrera A, Hahnen E, Hauke J… See abstract for full author list ➔ Rebbeck TR, et al. Among authors: lasa a. Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12. Hum Mutat. 2018. PMID: 29446198 Free PMC article.
Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers.
Milne RL, Osorio A, Ramón y Cajal T, Baiget M, Lasa A, Diaz-Rubio E, de la Hoya M, Caldés T, Teulé A, Lázaro C, Blanco I, Balmaña J, Sánchez-Ollé G, Vega A, Blanco A, Chirivella I, Esteban Cardeñosa E, Durán M, Velasco E, Martínez de Dueñas E, Tejada MI, Miramar MD, Calvo MT, Guillén-Ponce C, Salazar R, San Román C, Urioste M, Benítez J. Milne RL, et al. Among authors: lasa a. Breast Cancer Res Treat. 2010 Jan;119(1):221-32. doi: 10.1007/s10549-009-0394-1. Epub 2009 Apr 16. Breast Cancer Res Treat. 2010. PMID: 19370414 Free article.
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.
Antoniou AC, Sinilnikova OM, McGuffog L, Healey S, Nevanlinna H, Heikkinen T, Simard J, Spurdle AB, Beesley J, Chen X; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer; Neuhausen SL, Ding YC, Couch FJ, Wang X, Fredericksen Z, Peterlongo P, Peissel B, Bonanni B, Viel A, Bernard L, Radice P, Szabo CI, Foretova L, Zikan M, Claes K, Greene MH, Mai PL, Rennert G, Lejbkowicz F, Andrulis IL, Ozcelik H, Glendon G; OCGN; Gerdes AM, Thomassen M, Sunde L, Caligo MA, Laitman Y, Kontorovich T, Cohen S, Kaufman B, Dagan E, Baruch RG, Friedman E, Harbst K, Barbany-Bustinza G, Rantala J, Ehrencrona H, Karlsson P, Domchek SM, Nathanson KL, Osorio A, Blanco I, Lasa A, Benítez J, Hamann U, Hogervorst FB, Rookus MA, Collee JM, Devilee P, Ligtenberg MJ, van der Luijt RB, Aalfs CM, Waisfisz Q, Wijnen J, van Roozendaal CE; HEBON; Peock S, Cook M, Frost D, Oliver C, Platte R, Evans DG, Lalloo F, Eeles R, Izatt L, Davidson R, Chu C, Eccles D, Cole T, Hodgson S; EMBRACE; Godwin AK, Stoppa-Lyonnet D, Buecher B, Léoné M, Bressac-de Paillerets B, Remenieras A, Caron O, Lenoir GM, Sevenet N, Longy M, Ferrer SF, Prieur F; GEMO; Goldgar D, Miron A, John EM, Buys SS, Daly M… See abstract for full author list ➔ Antoniou AC, et al. Among authors: lasa a. Hum Mol Genet. 2009 Nov 15;18(22):4442-56. doi: 10.1093/hmg/ddp372. Epub 2009 Aug 5. Hum Mol Genet. 2009. PMID: 19656774 Free PMC article.
Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer.
Maxwell CA, Benítez J, Gómez-Baldó L, Osorio A, Bonifaci N, Fernández-Ramires R, Costes SV, Guinó E, Chen H, Evans GJ, Mohan P, Català I, Petit A, Aguilar H, Villanueva A, Aytes A, Serra-Musach J, Rennert G, Lejbkowicz F, Peterlongo P, Manoukian S, Peissel B, Ripamonti CB, Bonanni B, Viel A, Allavena A, Bernard L, Radice P, Friedman E, Kaufman B, Laitman Y, Dubrovsky M, Milgrom R, Jakubowska A, Cybulski C, Gorski B, Jaworska K, Durda K, Sukiennicki G, Lubiński J, Shugart YY, Domchek SM, Letrero R, Weber BL, Hogervorst FB, Rookus MA, Collee JM, Devilee P, Ligtenberg MJ, Luijt RB, Aalfs CM, Waisfisz Q, Wijnen J, Roozendaal CE; HEBON; EMBRACE; Easton DF, Peock S, Cook M, Oliver C, Frost D, Harrington P, Evans DG, Lalloo F, Eeles R, Izatt L, Chu C, Eccles D, Douglas F, Brewer C, Nevanlinna H, Heikkinen T, Couch FJ, Lindor NM, Wang X, Godwin AK, Caligo MA, Lombardi G, Loman N, Karlsson P, Ehrencrona H, Wachenfeldt Av; SWE-BRCA; Barkardottir RB, Hamann U, Rashid MU, Lasa A, Caldés T, Andrés R, Schmitt M, Assmann V, Stevens K, Offit K, Curado J, Tilgner H, Guigó R, Aiza G, Brunet J, Castellsagué J, Martrat G, Urruticoechea A, Blanco I, Tihomirova L, Goldgar DE, Buys S, John EM, Mi… See abstract for full author list ➔ Maxwell CA, et al. Among authors: lasa a. PLoS Biol. 2011 Nov;9(11):e1001199. doi: 10.1371/journal.pbio.1001199. Epub 2011 Nov 15. PLoS Biol. 2011. PMID: 22110403 Free PMC article.
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
Couch FJ, Wang X, McGuffog L, Lee A, Olswold C, Kuchenbaecker KB, Soucy P, Fredericksen Z, Barrowdale D, Dennis J, Gaudet MM, Dicks E, Kosel M, Healey S, Sinilnikova OM, Lee A, Bacot F, Vincent D, Hogervorst FB, Peock S, Stoppa-Lyonnet D, Jakubowska A; kConFab Investigators; Radice P, Schmutzler RK; SWE-BRCA; Domchek SM, Piedmonte M, Singer CF, Friedman E, Thomassen M; Ontario Cancer Genetics Network; Hansen TV, Neuhausen SL, Szabo CI, Blanco I, Greene MH, Karlan BY, Garber J, Phelan CM, Weitzel JN, Montagna M, Olah E, Andrulis IL, Godwin AK, Yannoukakos D, Goldgar DE, Caldes T, Nevanlinna H, Osorio A, Terry MB, Daly MB, van Rensburg EJ, Hamann U, Ramus SJ, Toland AE, Caligo MA, Olopade OI, Tung N, Claes K, Beattie MS, Southey MC, Imyanitov EN, Tischkowitz M, Janavicius R, John EM, Kwong A, Diez O, Balmaña J, Barkardottir RB, Arun BK, Rennert G, Teo SH, Ganz PA, Campbell I, van der Hout AH, van Deurzen CH, Seynaeve C, Gómez Garcia EB, van Leeuwen FE, Meijers-Heijboer HE, Gille JJ, Ausems MG, Blok MJ, Ligtenberg MJ, Rookus MA, Devilee P, Verhoef S, van Os TA, Wijnen JT; HEBON; EMBRACE; Frost D, Ellis S, Fineberg E, Platte R, Evans DG, Izatt L, Eeles RA, Adlard J, Eccles DM, Cook J,… See abstract for full author list ➔ Couch FJ, et al. Among authors: lasa a. PLoS Genet. 2013;9(3):e1003212. doi: 10.1371/journal.pgen.1003212. Epub 2013 Mar 27. PLoS Genet. 2013. PMID: 23544013 Free PMC article.
Evidence for a link between TNFRSF11A and risk of breast cancer.
Bonifaci N, Palafox M, Pellegrini P, Osorio A, Benítez J, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Roversi G, Barile M, Viel A, Mariette F, Bernard L, Radice P, Kaufman B, Laitman Y, Milgrom R, Friedman E, Sáez ME, Climent F, Soler MT, Diez O, Balmaña J, Lasa A, Ramón y Cajal T, Miramar MD, de la Hoya M, Pérez-Segura P, Caldés T, Moreno V, Urruticoechea A, Brunet J, Lázaro C, Blanco I, Pujana MA, González-Suárez E. Bonifaci N, et al. Among authors: lasa a. Breast Cancer Res Treat. 2011 Oct;129(3):947-54. doi: 10.1007/s10549-011-1546-7. Epub 2011 May 4. Breast Cancer Res Treat. 2011. PMID: 21541702
No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.
Ovarian Cancer Association Consortium, Breast Cancer Association Consortium, and Consortium of Modifiers of BRCA1 and BRCA2; Hollestelle A, van der Baan FH, Berchuck A, Johnatty SE, Aben KK, Agnarsson BA, Aittomäki K, Alducci E, Andrulis IL, Anton-Culver H, Antonenkova NN, Antoniou AC, Apicella C, Arndt V, Arnold N, Arun BK, Arver B, Ashworth A; Australian Ovarian Cancer Study Group; Baglietto L, Balleine R, Bandera EV, Barrowdale D, Bean YT, Beckmann L, Beckmann MW, Benitez J, Berger A, Berger R, Beuselinck B, Bisogna M, Bjorge L, Blomqvist C, Bogdanova NV, Bojesen A, Bojesen SE, Bolla MK, Bonanni B, Brand JS, Brauch H; Breast Cancer Family Register; Brenner H, Brinton L, Brooks-Wilson A, Bruinsma F, Brunet J, Brüning T, Budzilowska A, Bunker CH, Burwinkel B, Butzow R, Buys SS, Caligo MA, Campbell I, Carter J, Chang-Claude J, Chanock SJ, Claes KBM, Collée JM, Cook LS, Couch FJ, Cox A, Cramer D, Cross SS, Cunningham JM, Cybulski C, Czene K, Damiola F, Dansonka-Mieszkowska A, Darabi H, de la Hoya M, deFazio A, Dennis J, Devilee P, Dicks EM, Diez O, Doherty JA, Domchek SM, Dorfling CM, Dörk T, Silva IDS, du Bois A, Dumont M, Dunning AM, Duran M, Easton DF, Eccles D, Edwards RP, Ehre… See abstract for full author list ➔ Ovarian Cancer Association Consortium, Breast Cancer Association Consortium, and Consortium of Modifiers of BRCA1 and BRCA2, et al. Among authors: lasa a. Gynecol Oncol. 2016 May;141(2):386-401. doi: 10.1016/j.ygyno.2015.04.034. Epub 2015 May 2. Gynecol Oncol. 2016. PMID: 25940428 Free PMC article. Review.
The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins.
Infante M, Durán M, Acedo A, Sánchez-Tapia EM, Díez-Gómez B, Barroso A, García-González M, Feliubadaló L, Lasa A, de la Hoya M, Esteban-Cardeñosa E, Díez O, Martínez-Bouzas C, Godino J, Teulé A, Osorio A, Lastra E, González-Sarmiento R, Miner C, Velasco EA. Infante M, et al. Among authors: lasa a. Carcinogenesis. 2013 Nov;34(11):2505-11. doi: 10.1093/carcin/bgt272. Epub 2013 Aug 8. Carcinogenesis. 2013. PMID: 23929434 Free article.
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