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DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers.
Osorio A, Milne RL, Kuchenbaecker K, Vaclová T, Pita G, Alonso R, Peterlongo P, Blanco I, de la Hoya M, Duran M, Díez O, Ramón Y Cajal T, Konstantopoulou I, Martínez-Bouzas C, Andrés Conejero R, Soucy P, McGuffog L, Barrowdale D, Lee A; SWE-BRCA; Arver B, Rantala J, Loman N, Ehrencrona H, Olopade OI, Beattie MS, Domchek SM, Nathanson K, Rebbeck TR, Arun BK, Karlan BY, Walsh C, Lester J, John EM, Whittemore AS, Daly MB, Southey M, Hopper J, Terry MB, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Steele L, Neuhausen SL, Ding YC, Hansen TV, Jønson L, Ejlertsen B, Gerdes AM, Infante M, Herráez B, Moreno LT, Weitzel JN, Herzog J, Weeman K, Manoukian S, Peissel B, Zaffaroni D, Scuvera G, Bonanni B, Mariette F, Volorio S, Viel A, Varesco L, Papi L, Ottini L, Tibiletti MG, Radice P, Yannoukakos D, Garber J, Ellis S, Frost D, Platte R, Fineberg E, Evans G, Lalloo F, Izatt L, Eeles R, Adlard J, Davidson R, Cole T, Eccles D, Cook J, Hodgson S, Brewer C, Tischkowitz M, Douglas F, Porteous M, Side L, Walker L, Morrison P, Donaldson A, Kennedy J, Foo C, Godwin AK, Schmutzler RK, Wappenschmidt B, Rhiem K, Engel C, Meindl A, Ditsch N, Arnold N, Plendl HJ, Niederacher D, Sutter C, Wa… See abstract for full author list ➔ Osorio A, et al. Among authors: engel c. PLoS Genet. 2014 Apr 3;10(4):e1004256. doi: 10.1371/journal.pgen.1004256. eCollection 2014 Apr. PLoS Genet. 2014. PMID: 24698998 Free PMC article.
A breast cancer risk haplotype in the caspase-8 gene.
Shephard ND, Abo R, Rigas SH, Frank B, Lin WY, Brock IW, Shippen A, Balasubramanian SP, Reed MW, Bartram CR, Meindl A, Schmutzler RK, Engel C, Burwinkel B, Cannon-Albright LA, Allen-Brady K, Camp NJ, Cox A. Shephard ND, et al. Among authors: engel c. Cancer Res. 2009 Apr 1;69(7):2724-8. doi: 10.1158/0008-5472.CAN-08-4266. Epub 2009 Mar 24. Cancer Res. 2009. PMID: 19318553 Free PMC 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 MB, Hopp… See abstract for full author list ➔ Antoniou AC, et al. Among authors: engel c. 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.
Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity.
Tchatchou S, Riedel A, Lyer S, Schmutzhard J, Strobel-Freidekind O, Gronert-Sum S, Mietag C, D'Amato M, Schlehe B, Hemminki K, Sutter C, Ditsch N, Blackburn A, Hill LZ, Jerry DJ, Bugert P, Weber BH, Niederacher D, Arnold N, Varon-Mateeva R, Wappenschmidt B, Schmutzler RK, Engel C, Meindl A, Bartram CR, Mollenhauer J, Burwinkel B. Tchatchou S, et al. Among authors: engel c. Hum Mutat. 2010 Jan;31(1):60-6. doi: 10.1002/humu.21134. Hum Mutat. 2010. PMID: 19830809
Low-risk variants FGFR2, TNRC9 and LSP1 in German familial breast cancer patients.
Hemminki K, Müller-Myhsok B, Lichtner P, Engel C, Chen B, Burwinkel B, Försti A, Sutter C, Wappenschmidt B, Hellebrand H, Illig T, Arnold N, Niederacher D, Dworniczak B, Deissler H, Kast K, Gadzicki D, Meitinger T, Wichmann HE, Kiechle M, Bartram CR, Schmutzler RK, Meindl A. Hemminki K, et al. Among authors: engel c. Int J Cancer. 2010 Jun 15;126(12):2858-62. doi: 10.1002/ijc.24986. Int J Cancer. 2010. PMID: 19856316 Free article.
Contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers.
Graeser MK, Engel C, Rhiem K, Gadzicki D, Bick U, Kast K, Froster UG, Schlehe B, Bechtold A, Arnold N, Preisler-Adams S, Nestle-Kraemling C, Zaino M, Loeffler M, Kiechle M, Meindl A, Varga D, Schmutzler RK. Graeser MK, et al. Among authors: engel c. J Clin Oncol. 2009 Dec 10;27(35):5887-92. doi: 10.1200/JCO.2008.19.9430. Epub 2009 Oct 26. J Clin Oncol. 2009. PMID: 19858402
Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.
Meindl A, Hellebrand H, Wiek C, Erven V, Wappenschmidt B, Niederacher D, Freund M, Lichtner P, Hartmann L, Schaal H, Ramser J, Honisch E, Kubisch C, Wichmann HE, Kast K, Deissler H, Engel C, Müller-Myhsok B, Neveling K, Kiechle M, Mathew CG, Schindler D, Schmutzler RK, Hanenberg H. Meindl A, et al. Among authors: engel c. Nat Genet. 2010 May;42(5):410-4. doi: 10.1038/ng.569. Epub 2010 Apr 18. Nat Genet. 2010. PMID: 20400964
A BRCA1 promoter variant (rs11655505) and breast cancer risk.
Verderio P, Pizzamiglio S, Southey MC, Spurdle AB, Hopper JL, Chen X, Beesley J; Australian Ovarian Cancer Study Group KConFab; Schmutzler RK, Engel C, Burwinkel B, Bugert P, Ficarazzi F, Manoukian S, Barile M, Wappenschmidt B, Chenevix-Trench G, Radice P, Peterlongo P. Verderio P, et al. Among authors: engel c. J Med Genet. 2010 Apr;47(4):268-70. doi: 10.1136/jmg.2009.073544. J Med Genet. 2010. PMID: 20413709
Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers.
Wang X, Pankratz VS, Fredericksen Z, Tarrell R, Karaus M, McGuffog L, Pharaoh PD, Ponder BA, Dunning AM, Peock S, Cook M, Oliver C, Frost D; EMBRACE; Sinilnikova OM, Stoppa-Lyonnet D, Mazoyer S, Houdayer C; GEMO; Hogervorst FB, Hooning MJ, Ligtenberg MJ; HEBON; Spurdle A, Chenevix-Trench G; kConFab; Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Domchek SM, Nathanson KL, Rebbeck TR, Singer CF, Gschwantler-Kaulich D, Dressler C, Fink A, Szabo CI, Zikan M, Foretova L, Claes K, Thomas G, Hoover RN, Hunter DJ, Chanock SJ, Easton DF, Antoniou AC, Couch FJ. Wang X, et al. Among authors: engel c. Hum Mol Genet. 2010 Jul 15;19(14):2886-97. doi: 10.1093/hmg/ddq174. Epub 2010 Apr 23. Hum Mol Genet. 2010. PMID: 20418484 Free PMC article.
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