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Cross-Ancestry Genome-Wide Association Study Defines the Extended CYP2D6 Locus as the Principal Genetic Determinant of Endoxifen Plasma Concentrations.
Khor CC, Winter S, Sutiman N, Mürdter TE, Chen S, Lim JSL, Li Z, Li J, Sim KS, Ganchev B, Eccles D, Eccles B, Tapper W, Zgheib NK, Tfayli A, Ng RCH, Yap YS, Lim E, Wong M, Wong NS, Ang PCS, Dent R, Tremmel R, Klein K, Schaeffeler E, Zhou Y, Lauschke VM, Eichelbaum M, Schwab M, Brauch HB, Chowbay B, Schroth W. Khor CC, et al. Among authors: li z, li j. Clin Pharmacol Ther. 2023 Mar;113(3):712-723. doi: 10.1002/cpt.2846. Epub 2023 Jan 31. Clin Pharmacol Ther. 2023. PMID: 36629403
Confirmation of the reduction of hormone replacement therapy-related breast cancer risk for carriers of the HSD17B1_937_G variant.
Obazee O, Justenhoven C, Winter S, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Hannelius U, Li J, Humphreys K, Hall P, Giles G, Severi G, Baglietto L, Southey M, Rabstein S, Harth V, Lotz A, Pesch B, Brüning T, Baisch C, Ko YD, Hamann U, Brauch H. Obazee O, et al. Among authors: li j. Breast Cancer Res Treat. 2013 Apr;138(2):543-8. doi: 10.1007/s10549-013-2448-7. Epub 2013 Feb 21. Breast Cancer Res Treat. 2013. PMID: 23430226
The UGT1A6_19_GG genotype is a breast cancer risk factor.
Justenhoven C, Obazee O, Winter S, Rabstein S, Lotz A, Harth V, Pesch B, Brüning T, Baisch C, Hartikainen JM, Mannermaa A, Kosma VM, Kataja V, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Fasching PA, Beckmann M, Ekici AB, Hein A, Hall P, Li J, Chang-Claude J, Flesch-Janys D, Seibold P, Rudolph A, Hamann U, Ko YD, Brauch H. Justenhoven C, et al. Among authors: li j. Front Genet. 2013 Jun 11;4:104. doi: 10.3389/fgene.2013.00104. eCollection 2013. Front Genet. 2013. PMID: 23781229 Free PMC article.
Large-scale genotyping identifies a new locus at 22q13.2 associated with female breast size.
Li J, Foo JN, Schoof N, Varghese JS, Fernandez-Navarro P, Gierach GL, Quek ST, Hartman M, Nord S, Kristensen VN, Pollán M, Figueroa JD, Thompson DJ, Li Y, Khor CC, Humphreys K, Liu J, Czene K, Hall P. Li J, et al. Among authors: li y. J Med Genet. 2013 Oct;50(10):666-73. doi: 10.1136/jmedgenet-2013-101708. Epub 2013 Jul 3. J Med Genet. 2013. PMID: 23825393 Free PMC article.
Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade.
Purrington KS, Slettedahl S, Bolla MK, Michailidou K, Czene K, Nevanlinna H, Bojesen SE, Andrulis IL, Cox A, Hall P, Carpenter J, Yannoukakos D, Haiman CA, Fasching PA, Mannermaa A, Winqvist R, Brenner H, Lindblom A, Chenevix-Trench G, Benitez J, Swerdlow A, Kristensen V, Guénel P, Meindl A, Darabi H, Eriksson M, Fagerholm R, Aittomäki K, Blomqvist C, Nordestgaard BG, Nielsen SF, Flyger H, Wang X, Olswold C, Olson JE, Mulligan AM, Knight JA, Tchatchou S, Reed MW, Cross SS, Liu J, Li J, Humphreys K, Clarke C, Scott R; ABCTB Investigators; Fostira F, Fountzilas G, Konstantopoulou I, Henderson BE, Schumacher F, Le Marchand L, Ekici AB, Hartmann A, Beckmann MW, Hartikainen JM, Kosma VM, Kataja V, Jukkola-Vuorinen A, Pylkäs K, Kauppila S, Dieffenbach AK, Stegmaier C, Arndt V, Margolin S; Australian Ovarian Cancer Study Group; kConFab Investigators; Balleine R, Arias Perez JI, Pilar Zamora M, Menéndez P, Ashworth A, Jones M, Orr N, Arveux P, Kerbrat P, Truong T, Bugert P, Toland AE, Ambrosone CB, Labrèche F, Goldberg MS, Dumont M, Ziogas A, Lee E, Dite GS, Apicella C, Southey MC, Long J, Shrubsole M, Deming-Halverson S, Ficarazzi F, Barile M, Peterlongo P, Durda K, Jaworska-Bieni… See abstract for full author list ➔ Purrington KS, et al. Among authors: li j. Hum Mol Genet. 2014 Nov 15;23(22):6034-46. doi: 10.1093/hmg/ddu300. Epub 2014 Jun 13. Hum Mol Genet. 2014. PMID: 24927736 Free PMC article.
2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy.
Li J, Lindström LS, Foo JN, Rafiq S, Schmidt MK, Pharoah PD, Michailidou K, Dennis J, Bolla MK, Wang Q, Van 't Veer LJ, Cornelissen S, Rutgers E, Southey MC, Apicella C, Dite GS, Hopper JL, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Blomqvist C, Muranen TA, Aittomäki K, Lindblom A, Margolin S, Mannermaa A, Kosma VM, Hartikainen JM, Kataja V, Chenevix-Trench G; kConFab Investigators; Phillips KA, McLachlan SA, Lambrechts D, Thienpont B, Smeets A, Wildiers H, Chang-Claude J, Flesch-Janys D, Seibold P, Rudolph A, Giles GG, Baglietto L, Severi G, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Kristensen V, Alnæs GI, Borresen-Dale AL, Nord S, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Andrulis IL, Knight JA, Glendon G, Tchatchou S, Devilee P, Tollenaar R, Seynaeve C, Hooning M, Kriege M, Hollestelle A, van den Ouweland A, Li Y, Hamann U, Torres D, Ulmer HU, Rüdiger T, Shen CY, Hsiung CN, Wu PE, Chen ST, Teo SH, Taib NA, Har Yip C, Fuang Ho G, Matsuo K, Ito H, Iwata H, Tajima K, Kang D, Choi JY, Park SK, Yoo KY, Maishman T, Tapper WJ, Dunning A, Shah M, Luben R, Brown J, Khor CC, Eccles DM, Nevanlinna H, Easton D, Humphreys K, Liu J, Hall P, Czene K. Li J, et al. Among authors: li y. Nat Commun. 2014 Jun 17;5:4051. doi: 10.1038/ncomms5051. Nat Commun. 2014. PMID: 24937182 Free PMC article.
Association analysis identifies 65 new breast cancer risk loci.
Michailidou K, Lindström S, Dennis J, Beesley J, Hui S, Kar S, Lemaçon A, Soucy P, Glubb D, Rostamianfar A, Bolla MK, Wang Q, Tyrer J, Dicks E, Lee A, Wang Z, Allen J, Keeman R, Eilber U, French JD, Qing Chen X, Fachal L, McCue K, McCart Reed AE, Ghoussaini M, Carroll JS, Jiang X, Finucane H, Adams M, Adank MA, Ahsan H, Aittomäki K, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Arun B, Auer PL, Bacot F, Barrdahl M, Baynes C, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bernstein L, Blomqvist C, Bogdanova NV, Bojesen SE, Bonanni B, Børresen-Dale AL, Brand JS, Brauch H, Brennan P, Brenner H, Brinton L, Broberg P, Brock IW, Broeks A, Brooks-Wilson A, Brucker SY, Brüning T, Burwinkel B, Butterbach K, Cai Q, Cai H, Caldés T, Canzian F, Carracedo A, Carter BD, Castelao JE, Chan TL, David Cheng TY, Seng Chia K, Choi JY, Christiansen H, Clarke CL; NBCS Collaborators; Collée M, Conroy DM, Cordina-Duverger E, Cornelissen S, Cox DG, Cox A, Cross SS, Cunningham JM, Czene K, Daly MB, Devilee P, Doheny KF, Dörk T, Dos-Santos-Silva I, Dumont M, Durcan L, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Ellberg C, Elvira M, Engel C, Eriksson M, Fasching PA, Figueroa J, Flesch-Janys D, Fletche… See abstract for full author list ➔ Michailidou K, et al. Among authors: li j. Nature. 2017 Nov 2;551(7678):92-94. doi: 10.1038/nature24284. Epub 2017 Oct 23. Nature. 2017. PMID: 29059683 Free PMC article.
A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer.
Wu L, Shi W, Long J, Guo X, Michailidou K, Beesley J, Bolla MK, Shu XO, Lu Y, Cai Q, Al-Ejeh F, Rozali E, Wang Q, Dennis J, Li B, Zeng C, Feng H, Gusev A, Barfield RT, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Auer PL, Barrdahl M, Baynes C, Beckmann MW, Benitez J, Bermisheva M, Blomqvist C, Bogdanova NV, Bojesen SE, Brauch H, Brenner H, Brinton L, Broberg P, Brucker SY, Burwinkel B, Caldés T, Canzian F, Carter BD, Castelao JE, Chang-Claude J, Chen X, Cheng TD, Christiansen H, Clarke CL; NBCS Collaborators; Collée M, Cornelissen S, Couch FJ, Cox D, Cox A, Cross SS, Cunningham JM, Czene K, Daly MB, Devilee P, Doheny KF, Dörk T, Dos-Santos-Silva I, Dumont M, Dwek M, Eccles DM, Eilber U, Eliassen AH, Engel C, Eriksson M, Fachal L, Fasching PA, Figueroa J, Flesch-Janys D, Fletcher O, Flyger H, Fritschi L, Gabrielson M, Gago-Dominguez M, Gapstur SM, García-Closas M, Gaudet MM, Ghoussaini M, Giles GG, Goldberg MS, Goldgar DE, González-Neira A, Guénel P, Hahnen E, Haiman CA, Håkansson N, Hall P, Hallberg E, Hamann U, Harrington P, Hein A, Hicks B, Hillemanns P, Hollestelle A, Hoover RN, Hopper JL, Huang G, Humphreys K, Hunter DJ, Jakubowska A, Janni W, John EM, Johnson N, J… See abstract for full author list ➔ Wu L, et al. Among authors: li j, li b. Nat Genet. 2018 Jul;50(7):968-978. doi: 10.1038/s41588-018-0132-x. Epub 2018 Jun 18. Nat Genet. 2018. PMID: 29915430 Free PMC article.
Two truncating variants in FANCC and breast cancer risk.
Dörk T, Peterlongo P, Mannermaa A, Bolla MK, Wang Q, Dennis J, Ahearn T, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Augustinsson A, Freeman LEB, Beckmann MW, Beeghly-Fadiel A, Behrens S, Bermisheva M, Blomqvist C, Bogdanova NV, Bojesen SE, Brauch H, Brenner H, Burwinkel B, Canzian F, Chan TL, Chang-Claude J, Chanock SJ, Choi JY, Christiansen H, Clarke CL, Couch FJ, Czene K, Daly MB, Dos-Santos-Silva I, Dwek M, Eccles DM, Ekici AB, Eriksson M, Evans DG, Fasching PA, Figueroa J, Flyger H, Fritschi L, Gabrielson M, Gago-Dominguez M, Gao C, Gapstur SM, García-Closas M, García-Sáenz JA, Gaudet MM, Giles GG, Goldberg MS, Goldgar DE, Guénel P, Haeberle L, Haiman CA, Håkansson N, Hall P, Hamann U, Hartman M, Hauke J, Hein A, Hillemanns P, Hogervorst FBL, Hooning MJ, Hopper JL, Howell T, Huo D, Ito H, Iwasaki M, Jakubowska A, Janni W, John EM, Jung A, Kaaks R, Kang D, Kapoor PM, Khusnutdinova E, Kim SW, Kitahara CM, Koutros S, Kraft P, Kristensen VN, Kwong A, Lambrechts D, Marchand LL, Li J, Lindström S, Linet M, Lo WY, Long J, Lophatananon A, Lubiński J, Manoochehri M, Manoukian S, Margolin S, Martinez E, Matsuo K, Mavroudis D, Meindl A, Menon U, Milne RL, Mohd Taib NA, Muir… See abstract for full author list ➔ Dörk T, et al. Among authors: li j. Sci Rep. 2019 Aug 29;9(1):12524. doi: 10.1038/s41598-019-48804-y. Sci Rep. 2019. PMID: 31467304 Free PMC article.
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