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Page 1
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
Dunning AM, Michailidou K, Kuchenbaecker KB, Thompson D, French JD, Beesley J, Healey CS, Kar S, Pooley KA, Lopez-Knowles E, Dicks E, Barrowdale D, Sinnott-Armstrong NA, Sallari RC, Hillman KM, Kaufmann S, Sivakumaran H, Moradi Marjaneh M, Lee JS, Hills M, Jarosz M, Drury S, Canisius S, Bolla MK, Dennis J, Wang Q, Hopper JL, Southey MC, Broeks A, Schmidt MK, Lophatananon A, Muir K, Beckmann MW, Fasching PA, Dos-Santos-Silva I, Peto J, Sawyer EJ, Tomlinson I, Burwinkel B, Marme F, Guénel P, Truong T, Bojesen SE, Flyger H, González-Neira A, Perez JI, Anton-Culver H, Eunjung L, Arndt V, Brenner H, Meindl A, Schmutzler RK, Brauch H, Hamann U, Aittomäki K, Blomqvist C, Ito H, Matsuo K, Bogdanova N, Dörk T, Lindblom A, Margolin S, Kosma VM, Mannermaa A, Tseng CC, Wu AH, Lambrechts D, Wildiers H, Chang-Claude J, Rudolph A, Peterlongo P, Radice P, Olson JE, Giles GG, Milne RL, Haiman CA, Henderson BE, Goldberg MS, Teo SH, Yip CH, Nord S, Borresen-Dale AL, Kristensen V, Long J, Zheng W, Pylkäs K, Winqvist R, Andrulis IL, Knight JA, Devilee P, Seynaeve C, Figueroa J, Sherman ME, Czene K, Darabi H, Hollestelle A, van den Ouweland AM, Humphreys K, Gao YT, Shu XO, Cox A, Cross SS, Blot W, Cai … See abstract for full author list ➔ Dunning AM, et al. Among authors: apicella c. Nat Genet. 2016 Apr;48(4):374-86. doi: 10.1038/ng.3521. Epub 2016 Feb 29. Nat Genet. 2016. PMID: 26928228 Free PMC article.
Common variants in ZNF365 are associated with both mammographic density and breast cancer risk.
Lindström S, Vachon CM, Li J, Varghese J, Thompson D, Warren R, Brown J, Leyland J, Audley T, Wareham NJ, Loos RJ, Paterson AD, Rommens J, Waggott D, Martin LJ, Scott CG, Pankratz VS, Hankinson SE, Hazra A, Hunter DJ, Hopper JL, Southey MC, Chanock SJ, Silva Idos S, Liu J, Eriksson L, Couch FJ, Stone J, Apicella C, Czene K, Kraft P, Hall P, Easton DF, Boyd NF, Tamimi RM. Lindström S, et al. Among authors: apicella c. Nat Genet. 2011 Mar;43(3):185-7. doi: 10.1038/ng.760. Epub 2011 Jan 30. Nat Genet. 2011. PMID: 21278746 Free PMC article.
A role for XRCC2 gene polymorphisms in breast cancer risk and survival.
Lin WY, Camp NJ, Cannon-Albright LA, Allen-Brady K, Balasubramanian S, Reed MW, Hopper JL, Apicella C, Giles GG, Southey MC, Milne RL, Arias-Pérez JI, Menéndez-Rodríguez P, Benítez J, Grundmann M, Dubrowinskaja N, Park-Simon TW, Dörk T, Garcia-Closas M, Figueroa J, Sherman M, Lissowska J, Easton DF, Dunning AM, Rajaraman P, Sigurdson AJ, Doody MM, Linet MS, Pharoah PD, Schmidt MK, Cox A. Lin WY, et al. Among authors: apicella c. J Med Genet. 2011 Jul;48(7):477-84. doi: 10.1136/jmedgenet-2011-100018. Epub 2011 May 31. J Med Genet. 2011. PMID: 21632523 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: apicella c. 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: apicella c. J Med Genet. 2011 Oct;48(10):698-702. doi: 10.1136/jmedgenet-2011-100303. J Med Genet. 2011. PMID: 21931171 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: apicella c. 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.
The role of genetic breast cancer susceptibility variants as prognostic factors.
Fasching PA, Pharoah PD, Cox A, Nevanlinna H, Bojesen SE, Karn T, Broeks A, van Leeuwen FE, van't Veer LJ, Udo R, Dunning AM, Greco D, Aittomäki K, Blomqvist C, Shah M, Nordestgaard BG, Flyger H, Hopper JL, Southey MC, Apicella C, Garcia-Closas M, Sherman M, Lissowska J, Seynaeve C, Huijts PE, Tollenaar RA, Ziogas A, Ekici AB, Rauh C, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Andrulis IL, Ozcelik H, Mulligan AM, Glendon G, Hall P, Czene K, Liu J, Chang-Claude J, Wang-Gohrke S, Eilber U, Nickels S, Dörk T, Schiekel M, Bremer M, Park-Simon TW, Giles GG, Severi G, Baglietto L, Hooning MJ, Martens JW, Jager A, Kriege M, Lindblom A, Margolin S, Couch FJ, Stevens KN, Olson JE, Kosel M, Cross SS, Balasubramanian SP, Reed MW, Miron A, John EM, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Kauppila S, Burwinkel B, Marme F, Schneeweiss A, Sohn C, Chenevix-Trench G; kConFab Investigators; Lambrechts D, Dieudonne AS, Hatse S, van Limbergen E, Benitez J, Milne RL, Zamora MP, Pérez JI, Bonanni B, Peissel B, Loris B, Peterlongo P, Rajaraman P, Schonfeld SJ, Anton-Culver H, Devilee P, Beckmann MW, Slamon DJ, Phillips KA, Figueroa JD, Humphreys MK, Easton DF, Schmidt MK. Fasching PA, et al. Among authors: apicella c. Hum Mol Genet. 2012 Sep 1;21(17):3926-39. doi: 10.1093/hmg/dds159. Epub 2012 Apr 24. Hum Mol Genet. 2012. PMID: 22532573 Free PMC article.
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer.
Bojesen SE, Pooley KA, Johnatty SE, Beesley J, Michailidou K, Tyrer JP, Edwards SL, Pickett HA, Shen HC, Smart CE, Hillman KM, Mai PL, Lawrenson K, Stutz MD, Lu Y, Karevan R, Woods N, Johnston RL, French JD, Chen X, Weischer M, Nielsen SF, Maranian MJ, Ghoussaini M, Ahmed S, Baynes C, Bolla MK, Wang Q, Dennis J, McGuffog L, Barrowdale D, Lee A, Healey S, Lush M, Tessier DC, Vincent D, Bacot F; Australian Cancer Study; Australian Ovarian Cancer Study; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab); Gene Environment Interaction and Breast Cancer (GENICA); Swedish Breast Cancer Study (SWE-BRCA); Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON); Epidemiological study of BRCA1 & BRCA2 Mutation Carriers (EMBRACE); Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers (GEMO); Vergote I, Lambrechts S, Despierre E, Risch HA, González-Neira A, Rossing MA, Pita G, Doherty JA, Alvarez N, Larson MC, Fridley BL, Schoof N, Chang-Claude J, Cicek MS, Peto J, Kalli KR, Broeks A, Armasu SM, Schmidt MK, Braaf LM, Winterhoff B, Nevanlinna H, Konecny GE, Lambrechts D, Rogmann L, Guénel P, Teoman A, Milne RL, Garcia JJ, Cox … See abstract for full author list ➔ Bojesen SE, et al. Among authors: apicella c. Nat Genet. 2013 Apr;45(4):371-84, 384e1-2. doi: 10.1038/ng.2566. Nat Genet. 2013. PMID: 23535731 Free PMC article.
A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46,450 cases and 42,461 controls from the breast cancer association consortium.
Milne RL, Herranz J, Michailidou K, Dennis J, Tyrer JP, Zamora MP, Arias-Perez JI, González-Neira A, Pita G, Alonso MR, Wang Q, Bolla MK, Czene K, Eriksson M, Humphreys K, Darabi H, Li J, Anton-Culver H, Neuhausen SL, Ziogas A, Clarke CA, Hopper JL, Dite GS, Apicella C, Southey MC, Chenevix-Trench G; kConFab Investigators; Australian Ovarian Cancer Study Group; Swerdlow A, Ashworth A, Orr N, Schoemaker M, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Bojesen SE, Nordestgaard BG, Flyger H, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Wang X, Olson JE, Vachon C, Purrington K, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Dunning AM, Shah M, Guénel P, Truong T, Sanchez M, Mulot C, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Lindblom A, Margolin S, Hooning MJ, Hollestelle A, Collée JM, Jager A, Cox A, Brock IW, Reed MW, Devilee P, Tollenaar RA, Seynaeve C, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Simard J, Dumont M, Soucy P, Dörk T, Bogdanova NV, Hamann U, Försti A, Rüdiger T, Ulmer HU, Fasching PA, Häberle L, Ekici AB, Beckmann MW, Fletche… See abstract for full author list ➔ Milne RL, et al. Among authors: apicella c. Hum Mol Genet. 2014 Apr 1;23(7):1934-46. doi: 10.1093/hmg/ddt581. Epub 2013 Nov 15. Hum Mol Genet. 2014. PMID: 24242184 Free PMC article.
Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1.
Meyer KB, O'Reilly M, Michailidou K, Carlebur S, Edwards SL, French JD, Prathalingham R, Dennis J, Bolla MK, Wang Q, de Santiago I, Hopper JL, Tsimiklis H, Apicella C, Southey MC, Schmidt MK, Broeks A, Van 't Veer LJ, Hogervorst FB, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Fasching PA, Lux MP, Ekici AB, Beckmann MW, Peto J, Dos Santos Silva I, Fletcher O, Johnson N, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Marme F, Schneeweiss A, Sohn C, Burwinkel B, Guénel P, Truong T, Laurent-Puig P, Menegaux F, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Milne RL, Zamora MP, Arias JI, Benitez J, Neuhausen S, Anton-Culver H, Ziogas A, Dur CC, Brenner H, Müller H, Arndt V, Stegmaier C, Meindl A, Schmutzler RK, Engel C, Ditsch N, Brauch H, Brüning T, Ko YD; GENICA Network; Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Matsuo K, Ito H, Iwata H, Yatabe Y, Dörk T, Helbig S, Bogdanova NV, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Chenevix-Trench G; kConFab Investigators; Australian Ovarian Cancer Study Group; Wu AH, Tseng CC, Van Den Berg D, Stram DO, Lambrechts D, Thienpont B, Christiaens MR, Smeets A, Chang-Claude J, Rudolph A,… See abstract for full author list ➔ Meyer KB, et al. Among authors: apicella c. Am J Hum Genet. 2013 Dec 5;93(6):1046-60. doi: 10.1016/j.ajhg.2013.10.026. Epub 2013 Nov 27. Am J Hum Genet. 2013. PMID: 24290378 Free PMC article.
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