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Page 1
The impact of coding germline variants on contralateral breast cancer risk and survival.
Morra A, Mavaddat N, Muranen TA, Ahearn TU, Allen J, Andrulis IL, Auvinen P, Becher H, Behrens S, Blomqvist C, Bojesen SE, Bolla MK, Brauch H, Camp NJ, Carvalho S, Castelao JE, Cessna MH, Chang-Claude J, Chenevix-Trench G; NBCS Collaborators; Czene K, Decker B, Dennis J, Dörk T, Dorling L, Dunning AM, Ekici AB, Eriksson M, Evans DG, Fasching PA, Figueroa JD, Flyger H, Gago-Dominguez M, García-Closas M, Geurts-Giele WRR, Giles GG, Guénel P, Gündert M, Hahnen E, Hall P, Hamann U, Harrington PA, He W, Heikkilä P, Hooning MJ, Hoppe R, Howell A, Humphreys K; kConFab Investigators; Jakubowska A, Jung AY, Keeman R, Kristensen VN, Lubiński J, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Mavroudis D, Milne RL, Mulligan AM, Newman WG, Park-Simon TW, Peterlongo P, Pharoah PDP, Rhenius V, Saloustros E, Sawyer EJ, Schmutzler RK, Shah M, Spurdle AB, Tomlinson I, Truong T, van Veen EM, Vreeswijk MPG, Wang Q, Wendt C, Yang XR, Nevanlinna H, Devilee P, Easton DF, Schmidt MK. Morra A, et al. Among authors: ekici ab. Am J Hum Genet. 2023 Mar 2;110(3):475-486. doi: 10.1016/j.ajhg.2023.02.003. Epub 2023 Feb 23. Am J Hum Genet. 2023. PMID: 36827971 Free PMC article.
Genome-wide association study identifies a common variant associated with risk of endometrial cancer.
Spurdle AB, Thompson DJ, Ahmed S, Ferguson K, Healey CS, O'Mara T, Walker LC, Montgomery SB, Dermitzakis ET; Australian National Endometrial Cancer Study Group; Fahey P, Montgomery GW, Webb PM, Fasching PA, Beckmann MW, Ekici AB, Hein A, Lambrechts D, Coenegrachts L, Vergote I, Amant F, Salvesen HB, Trovik J, Njolstad TS, Helland H, Scott RJ, Ashton K, Proietto T, Otton G; National Study of Endometrial Cancer Genetics Group; Tomlinson I, Gorman M, Howarth K, Hodgson S, Garcia-Closas M, Wentzensen N, Yang H, Chanock S, Hall P, Czene K, Liu J, Li J, Shu XO, Zheng W, Long J, Xiang YB, Shah M, Morrison J, Michailidou K, Pharoah PD, Dunning AM, Easton DF. Spurdle AB, et al. Among authors: ekici ab. Nat Genet. 2011 May;43(5):451-4. doi: 10.1038/ng.812. Epub 2011 Apr 17. Nat Genet. 2011. PMID: 21499250 Free PMC article.
Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium.
Broeks A, Schmidt MK, Sherman ME, Couch FJ, Hopper JL, Dite GS, Apicella C, Smith LD, Hammet F, Southey MC, Van 't Veer LJ, de Groot R, Smit VT, Fasching PA, Beckmann MW, Jud S, Ekici AB, Hartmann A, Hein A, Schulz-Wendtland R, Burwinkel B, Marme F, Schneeweiss A, Sinn HP, Sohn C, Tchatchou S, Bojesen SE, Nordestgaard BG, Flyger H, Ørsted DD, Kaur-Knudsen D, Milne RL, Pérez JI, Zamora P, Rodríguez PM, Benítez J, Brauch H, Justenhoven C, Ko YD; Genica Network; Hamann U, Fischer HP, Brüning T, Pesch B, Chang-Claude J, Wang-Gohrke S, Bremer M, Karstens JH, Hillemanns P, Dörk T, Nevanlinna HA, Heikkinen T, Heikkilä P, Blomqvist C, Aittomäki K, Aaltonen K, Lindblom A, Margolin S, Mannermaa A, Kosma VM, Kauppinen JM, Kataja V, Auvinen P, Eskelinen M, Soini Y, Chenevix-Trench G, Spurdle AB, Beesley J, Chen X, Holland H; kConFab; AOCS; Lambrechts D, Claes B, Vandorpe T, Neven P, Wildiers H, Flesch-Janys D, Hein R, Löning T, Kosel M, Fredericksen ZS, Wang X, Giles GG, Baglietto L, Severi G, McLean C, Haiman CA, Henderson BE, Le Marchand L, Kolonel LN, Alnæs GG, Kristensen V, Børresen-Dale AL, Hunter DJ, Hankinson SE, Andrulis IL, Mulligan AM, O'Malley FP, Devilee P, Huijts PE, Tolle… See abstract for full author list ➔ Broeks A, et al. Among authors: ekici ab. Hum Mol Genet. 2011 Aug 15;20(16):3289-303. doi: 10.1093/hmg/ddr228. Epub 2011 May 19. Hum Mol Genet. 2011. PMID: 21596841 Free PMC article.
Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer.
Milne RL, Goode EL, García-Closas M, Couch FJ, Severi G, Hein R, Fredericksen Z, Malats N, Zamora MP, Arias Pérez JI, Benítez J, Dörk T, Schürmann P, Karstens JH, Hillemanns P, Cox A, Brock IW, Elliot G, Cross SS, Seal S, Turnbull C, Renwick A, Rahman N, Shen CY, Yu JC, Huang CS, Hou MF, Nordestgaard BG, Bojesen SE, Lanng C, Grenaker Alnæs G, Kristensen V, Børrensen-Dale AL, Hopper JL, Dite GS, Apicella C, Southey MC, Lambrechts D, Yesilyurt BT, Floris G, Leunen K, Sangrajrang S, Gaborieau V, Brennan P, McKay J, Chang-Claude J, Wang-Gohrke S, Radice P, Peterlongo P, Manoukian S, Barile M, Giles GG, Baglietto L, John EM, Miron A, Chanock SJ, Lissowska J, Sherman ME, Figueroa JD, Bogdanova NV, Antonenkova NN, Zalutsky IV, Rogov YI, Fasching PA, Bayer CM, Ekici AB, Beckmann MW, Brenner H, Müller H, Arndt V, Stegmaier C, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Meindl A, Heil J, Bartram CR, Schmutzler RK, Thomas GD, Hoover RN, Fletcher O, Gibson LJ, dos Santos Silva I, Peto J, Nickels S, Flesch-Janys D, Anton-Culver H, Ziogas A, Sawyer E, Tomlinson I, Kerin M, Miller N, Schmidt MK, Broeks A, Van 't Veer LJ, Tollenaar RA, P… See abstract for full author list ➔ Milne RL, et al. Among authors: ekici ab. Cancer Epidemiol Biomarkers Prev. 2011 Oct;20(10):2222-31. doi: 10.1158/1055-9965.EPI-11-0569. Epub 2011 Jul 27. Cancer Epidemiol Biomarkers Prev. 2011. PMID: 21795498 Free PMC article.
Common breast cancer susceptibility loci are associated with triple-negative breast cancer.
Stevens KN, Vachon CM, Lee AM, Slager S, Lesnick T, Olswold C, Fasching PA, Miron P, Eccles D, Carpenter JE, Godwin AK, Ambrosone C, Winqvist R, Brauch H; GENICA consortium; Schmidt MK, Cox A, Cross SS, Sawyer E, Hartmann A, Beckmann MW, Schulz-Wendtland R, Ekici AB, Tapper WJ, Gerty SM, Durcan L, Graham N, Hein R, Nickels S, Flesch-Janys D, Heinz J, Sinn HP, Konstantopoulou I, Fostira F, Pectasides D, Dimopoulos AM, Fountzilas G, Clarke CL, Balleine R, Olson JE, Fredericksen Z, Diasio RB, Pathak H, Ross E, Weaver J, Rüdiger T, Försti A, Dünnebier T, Ademuyiwa F, Kulkarni S, Pylkäs K, Jukkola-Vuorinen A, Ko YD, Van Limbergen E, Janssen H, Peto J, Fletcher O, Giles GG, Baglietto L, Verhoef S, Tomlinson I, Kosma VM, Beesley J, Greco D, Blomqvist C, Irwanto A, Liu J, Blows FM, Dawson SJ, Margolin S, Mannermaa A, Martin NG, Montgomery GW, Lambrechts D, dos Santos Silva I, Severi G, Hamann U, Pharoah P, Easton DF, Chang-Claude J, Yannoukakos D, Nevanlinna H, Wang X, Couch FJ. Stevens KN, et al. Among authors: ekici ab. Cancer Res. 2011 Oct 1;71(19):6240-9. doi: 10.1158/0008-5472.CAN-11-1266. Epub 2011 Aug 15. Cancer Res. 2011. PMID: 21844186 Free PMC article.
Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium.
Figueroa JD, Garcia-Closas M, Humphreys M, Platte R, Hopper JL, Southey MC, Apicella C, Hammet F, Schmidt MK, Broeks A, Tollenaar RA, Van't Veer LJ, Fasching PA, Beckmann MW, Ekici AB, Strick R, Peto J, dos Santos Silva I, Fletcher O, Johnson N, Sawyer E, Tomlinson I, Kerin M, Burwinkel B, Marme F, Schneeweiss A, Sohn C, Bojesen S, Flyger H, Nordestgaard BG, Benítez J, Milne RL, Ignacio Arias J, Zamora MP, Brenner H, Müller H, Arndt V, Rahman N, Turnbull C, Seal S, Renwick A, Brauch H, Justenhoven C, Brüning T; GENICA Network; Chang-Claude J, Hein R, Wang-Gohrke S, Dörk T, Schürmann P, Bremer M, Hillemanns P, Nevanlinna H, Heikkinen T, Aittomäki K, Blomqvist C, Bogdanova N, Antonenkova N, Rogov YI, Karstens JH, Bermisheva M, Prokofieva D, Gantcev SH, Khusnutdinova E, Lindblom A, Margolin S, Chenevix-Trench G, Beesley J, Chen X; kConFab AOCS Management Group; Mannermaa A, Kosma VM, Soini Y, Kataja V, Lambrechts D, Yesilyurt BT, Chrisiaens MR, Peeters S, Radice P, Peterlongo P, Manoukian S, Barile M, Couch F, Lee AM, Diasio R, Wang X, Giles GG, Severi G, Baglietto L, Maclean C, Offit K, Robson M, Joseph V, Gaudet M, John EM, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, A… See abstract for full author list ➔ Figueroa JD, et al. Among authors: ekici ab. Hum Mol Genet. 2011 Dec 1;20(23):4693-706. doi: 10.1093/hmg/ddr368. Epub 2011 Aug 18. Hum Mol Genet. 2011. PMID: 21852249 Free PMC article.
7q21-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium.
Milne RL, Lorenzo-Bermejo J, Burwinkel B, Malats N, Arias JI, Zamora MP, Benítez J, Humphreys MK, García-Closas M, Chanock SJ, Lissowska J, Sherman ME, Mannermaa A, Kataja V, Kosma VM, Nevanlinna H, Heikkinen T, Aittomäki K, Blomqvist C, Anton-Culver H, Ziogas A, Devilee P, van Asperen CJ, Tollenaar RA, Seynaeve C, Hall P, Czene K, Liu J, Irwanto AK, Kang D, Yoo KY, Noh DY, Couch FJ, Olson JE, Wang X, Fredericksen Z, Nordestgaard BG, Bojesen SE, Flyger H, Margolin S, Lindblom A, Fasching PA, Schulz-Wendtland R, Ekici AB, Beckmann MW, Wang-Gohrke S, Shen CY, Yu JC, Hsu HM, Wu PE, Giles GG, Severi G, Baglietto L, English DR, Cox A, Brock I, Elliott G, Reed MW, Beesley J, Chen X, Investigators K; AOCS Group; Fletcher O, Gibson L, dos Santos Silva I, Peto J, Frank B, Heil J, Meindl A, Chang-Claude J, Hein R, Vrieling A, Flesch-Janys D, Southey MC, Smith L, Apicella C, Hopper JL, Dunning AM, Pooley KA, Pharoah PD, Hamann U, Pesch B, Ko YD; GENICA Network; Easton DF, Chenevix-Trench G. Milne RL, et al. Among authors: ekici ab. J Med Genet. 2011 Oct;48(10):698-702. doi: 10.1136/jmedgenet-2011-100303. J Med Genet. 2011. PMID: 21931171 Free PMC article.
A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer.
Haiman CA, Chen GK, Vachon CM, Canzian F, Dunning A, Millikan RC, Wang X, Ademuyiwa F, Ahmed S, Ambrosone CB, Baglietto L, Balleine R, Bandera EV, Beckmann MW, Berg CD, Bernstein L, Blomqvist C, Blot WJ, Brauch H, Buring JE, Carey LA, Carpenter JE, Chang-Claude J, Chanock SJ, Chasman DI, Clarke CL, Cox A, Cross SS, Deming SL, Diasio RB, Dimopoulos AM, Driver WR, Dünnebier T, Durcan L, Eccles D, Edlund CK, Ekici AB, Fasching PA, Feigelson HS, Flesch-Janys D, Fostira F, Försti A, Fountzilas G, Gerty SM; Gene Environment Interaction and Breast Cancer in Germany (GENICA) Consortium; Giles GG, Godwin AK, Goodfellow P, Graham N, Greco D, Hamann U, Hankinson SE, Hartmann A, Hein R, Heinz J, Holbrook A, Hoover RN, Hu JJ, Hunter DJ, Ingles SA, Irwanto A, Ivanovich J, John EM, Johnson N, Jukkola-Vuorinen A, Kaaks R, Ko YD, Kolonel LN, Konstantopoulou I, Kosma VM, Kulkarni S, Lambrechts D, Lee AM, Marchand LL, Lesnick T, Liu J, Lindstrom S, Mannermaa A, Margolin S, Martin NG, Miron P, Montgomery GW, Nevanlinna H, Nickels S, Nyante S, Olswold C, Palmer J, Pathak H, Pectasides D, Perou CM, Peto J, Pharoah PD, Pooler LC, Press MF, Pylkäs K, Rebbeck TR, Rodriguez-Gil JL, Rosenberg L, Ross… See abstract for full author list ➔ Haiman CA, et al. Among authors: ekici ab. Nat Genet. 2011 Oct 30;43(12):1210-4. doi: 10.1038/ng.985. Nat Genet. 2011. PMID: 22037553 Free PMC article.
19p13.1 is a triple-negative-specific breast cancer susceptibility locus.
Stevens KN, Fredericksen Z, Vachon CM, Wang X, Margolin S, Lindblom A, Nevanlinna H, Greco D, Aittomäki K, Blomqvist C, Chang-Claude J, Vrieling A, Flesch-Janys D, Sinn HP, Wang-Gohrke S, Nickels S, Brauch H; GENICA Network; Ko YD, Fischer HP, Schmutzler RK, Meindl A, Bartram CR, Schott S, Engel C, Godwin AK, Weaver J, Pathak HB, Sharma P, Brenner H, Müller H, Arndt V, Stegmaier C, Miron P, Yannoukakos D, Stavropoulou A, Fountzilas G, Gogas HJ, Swann R, Dwek M, Perkins A, Milne RL, Benítez J, Zamora MP, Pérez JI, Bojesen SE, Nielsen SF, Nordestgaard BG, Flyger H, Guénel P, Truong T, Menegaux F, Cordina-Duverger E, Burwinkel B, Marmé F, Schneeweiss A, Sohn C, Sawyer E, Tomlinson I, Kerin MJ, Peto J, Johnson N, Fletcher O, Dos Santos Silva I, Fasching PA, Beckmann MW, Hartmann A, Ekici AB, Lophatananon A, Muir K, Puttawibul P, Wiangnon S, Schmidt MK, Broeks A, Braaf LM, Rosenberg EH, Hopper JL, Apicella C, Park DJ, Southey MC, Swerdlow AJ, Ashworth A, Orr N, Schoemaker MJ, Anton-Culver H, Ziogas A, Bernstein L, Dur CC, Shen CY, Yu JC, Hsu HM, Hsiung CN, Hamann U, Dünnebier T, Rüdiger T, Ulmer HU, Pharoah PP, Dunning AM, Humphreys MK, Wang Q, Cox A, Cross SS, Reed MW, Hall P, … See abstract for full author list ➔ Stevens KN, et al. Among authors: ekici ab. Cancer Res. 2012 Apr 1;72(7):1795-803. doi: 10.1158/0008-5472.CAN-11-3364. Epub 2012 Feb 13. Cancer Res. 2012. PMID: 22331459 Free PMC article.
11q13 is a susceptibility locus for hormone receptor positive breast cancer.
Lambrechts D, Truong T, Justenhoven C, Humphreys MK, Wang J, Hopper JL, Dite GS, Apicella C, Southey MC, Schmidt MK, Broeks A, Cornelissen S, van Hien R, Sawyer E, Tomlinson I, Kerin M, Miller N, Milne RL, Zamora MP, Pérez JI, Benítez J, Hamann U, Ko YD, Brüning T; GENICA Network; Chang-Claude J, Eilber U, Hein R, Nickels S, Flesch-Janys D, Wang-Gohrke S, John EM, Miron A, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Chenevix-Trench G, Beesley J, Chen X; Investigators kConFab; Australian Ovarian Cancer Study Group; Menegaux F, Cordina-Duverger E, Shen CY, Yu JC, Wu PE, Hou MF, Andrulis IL, Selander T, Glendon G, Mulligan AM, Anton-Culver H, Ziogas A, Muir KR, Lophatananon A, Rattanamongkongul S, Puttawibul P, Jones M, Orr N, Ashworth A, Swerdlow A, Severi G, Baglietto L, Giles G, Southey M, Marmé F, Schneeweiss A, Sohn C, Burwinkel B, Yesilyurt BT, Neven P, Paridaens R, Wildiers H, Brenner H, Müller H, Arndt V, Stegmaier C, Meindl A, Schott S, Bartram CR, Schmutzler RK, Cox A, Brock IW, Elliott G, Cross SS, Fasching PA, Schulz-Wendtland R, Ekici AB, Beckmann MW, Fletcher O, Johnson N, Silva Idos S, Peto J, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Dörk T, Sch… See abstract for full author list ➔ Lambrechts D, et al. Among authors: ekici ab. Hum Mutat. 2012 Jul;33(7):1123-32. doi: 10.1002/humu.22089. Epub 2012 Apr 30. Hum Mutat. 2012. PMID: 22461340 Free PMC article.
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