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Page 1
Identification of a Locus Near ULK1 Associated With Progression-Free Survival in Ovarian Cancer.
Quinn MCJ, McCue K, Shi W, Johnatty SE, Beesley J, Civitarese A, O'Mara TA, Glubb DM, Tyrer JP, Armasu SM, Ong JS, Gharahkhani P, Lu Y, Gao B, Patch AM, Fasching PA, Beckmann MW, Lambrechts D, Vergote I, Velez Edwards DR, Beeghly-Fadiel A, Benitez J, Garcia MJ, Goodman MT, Dörk T, Dürst M, Modugno F, Moysich K, du Bois A, Pfisterer J, Bauman K, Karlan BY, Lester J, Cunningham JM, Larson MC, McCauley BM, Kjaer SK, Jensen A, Hogdall CK, Hogdall E, Schildkraut JM, Riggan MJ, Berchuck A, Cramer DW, Terry KL, Bjorge L, Webb PM, Friedlander M, Pejovic T, Moffitt M, Glasspool R, May T, Ene GEV, Huntsman DG, Woo M, Carney ME, Hinsley S, Heitz F, Fereday S, Kennedy CJ, Edwards SL, Winham SJ, deFazio A, Pharoah PDP, Goode EL, MacGregor S, Chenevix-Trench G; AGO Study Group; OPAL Study Group; for Australian Ovarian Cancer Study Group. Quinn MCJ, et al. Among authors: macgregor s. Cancer Epidemiol Biomarkers Prev. 2021 Sep;30(9):1669-1680. doi: 10.1158/1055-9965.EPI-20-1817. Epub 2021 Jun 23. Cancer Epidemiol Biomarkers Prev. 2021. PMID: 34162658 Free PMC article.
Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness.
Lu Y, Dimasi DP, Hysi PG, Hewitt AW, Burdon KP, Toh T, Ruddle JB, Li YJ, Mitchell P, Healey PR, Montgomery GW, Hansell N, Spector TD, Martin NG, Young TL, Hammond CJ, Macgregor S, Craig JE, Mackey DA. Lu Y, et al. Among authors: macgregor s. PLoS Genet. 2010 May 13;6(5):e1000947. doi: 10.1371/journal.pgen.1000947. PLoS Genet. 2010. PMID: 20485516 Free PMC article.
Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot".
Johnatty SE, Beesley J, Chen X, Macgregor S, Duffy DL, Spurdle AB, deFazio A, Gava N, Webb PM, Rossing MA, Doherty JA, Goodman MT, Lurie G, Thompson PJ, Wilkens LR, Ness RB, Moysich KB, Chang-Claude J, Wang-Gohrke S, Cramer DW, Terry KL, Hankinson SE, Tworoger SS, Garcia-Closas M, Yang H, Lissowska J, Chanock SJ, Pharoah PD, Song H, Whitemore AS, Pearce CL, Stram DO, Wu AH, Pike MC, Gayther SA, Ramus SJ, Menon U, Gentry-Maharaj A, Anton-Culver H, Ziogas A, Hogdall E, Kjaer SK, Hogdall C, Berchuck A, Schildkraut JM, Iversen ES, Moorman PG, Phelan CM, Sellers TA, Cunningham JM, Vierkant RA, Rider DN, Goode EL, Haviv I, Chenevix-Trench G; Ovarian Cancer Association Consortium; Australian Ovarian Cancer Study Group; Australian Cancer Study (Ovarian Cancer). Johnatty SE, et al. Among authors: macgregor s. PLoS Genet. 2010 Jul 8;6(7):e1001016. doi: 10.1371/journal.pgen.1001016. PLoS Genet. 2010. PMID: 20628624 Free PMC article.
The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications for clinical testing.
Pharoah PD, Palmieri RT, Ramus SJ, Gayther SA, Andrulis IL, Anton-Culver H, Antonenkova N, Antoniou AC, Goldgar D; BCFR Investigators; Beattie MS, Beckmann MW, Birrer MJ, Bogdanova N, Bolton KL, Brewster W, Brooks-Wilson A, Brown R, Butzow R, Caldes T, Caligo MA, Campbell I, Chang-Claude J, Chen YA, Cook LS, Couch FJ, Cramer DW, Cunningham JM, Despierre E, Doherty JA, Dörk T, Dürst M, Eccles DM, Ekici AB, Easton D; EMBRACE Investigators; Fasching PA, de Fazio A, Fenstermacher DA, Flanagan JM, Fridley BL, Friedman E, Gao B, Sinilnikova O; GEMO Study Collaborators; Gentry-Maharaj A, Godwin AK, Goode EL, Goodman MT, Gross J, Hansen TV, Harnett P, Rookus M; HEBON Investigators; Heikkinen T, Hein R, Høgdall C, Høgdall E, Iversen ES, Jakubowska A, Johnatty SE, Karlan BY, Kauff ND, Kaye SB, Chenevix-Trench G; kConFab Investigators and the Consortium of Investigators of Modifiers of BRCA1/2; Kelemen LE, Kiemeney LA, Kjaer SK, Lambrechts D, Lapolla JP, Lázaro C, Le ND, Leminen A, Leunen K, Levine DA, Lu Y, Lundvall L, Macgregor S, Marees T, Massuger LF, McLaughlin JR, Menon U, Montagna M, Moysich KB, Narod SA, Nathanson KL, Nedergaard L, Ness RB, Nevanlinna H, Nickels S, Osorio A, P… See abstract for full author list ➔ Pharoah PD, et al. Among authors: macgregor s. Clin Cancer Res. 2011 Jun 1;17(11):3742-50. doi: 10.1158/1078-0432.CCR-10-3405. Epub 2011 Mar 8. Clin Cancer Res. 2011. PMID: 21385923 Free PMC article.
Platinum sensitivity-related germline polymorphism discovered via a cell-based approach and analysis of its association with outcome in ovarian cancer patients.
Huang RS, Johnatty SE, Gamazon ER, Im HK, Ziliak D, Duan S, Zhang W, Kistner EO, Chen P, Beesley J, Mi S, O'Donnell PH, Fraiman YS, Das S, Cox NJ, Lu Y, Macgregor S, Goode EL, Vierkant RA, Fridley BL, Hogdall E, Kjaer SK, Jensen A, Moysich KB, Grasela M, Odunsi K, Brown R, Paul J, Lambrechts D, Despierre E, Vergote I, Gross J, Karlan BY, Defazio A, Chenevix-Trench G; Australian Ovarian Cancer Study Group; Dolan ME. Huang RS, et al. Among authors: macgregor s. Clin Cancer Res. 2011 Aug 15;17(16):5490-500. doi: 10.1158/1078-0432.CCR-11-0724. Epub 2011 Jun 24. Clin Cancer Res. 2011. PMID: 21705454 Free PMC article.
Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers.
Beesley J, Pickett HA, Johnatty SE, Dunning AM, Chen X, Li J, Michailidou K, Lu Y, Rider DN, Palmieri RT, Stutz MD, Lambrechts D, Despierre E, Lambrechts S, Vergote I, Chang-Claude J, Nickels S, Vrieling A, Flesch-Janys D, Wang-Gohrke S, Eilber U, Bogdanova N, Antonenkova N, Runnebaum IB, Dörk T, Goodman MT, Lurie G, Wilkens LR, Matsuno RK, Kiemeney LA, Aben KK, Marees T, Massuger LF, Fridley BL, Vierkant RA, Bandera EV, Olson SH, Orlow I, Rodriguez-Rodriguez L, Cook LS, Le ND, Brooks-Wilson A, Kelemen LE, Campbell I, Gayther SA, Ramus SJ, Gentry-Maharaj A, Menon U, Ahmed S, Baynes C, Pharoah PD; kConFab Investigators; Australian Ovarian Cancer Study Group; ABCTB Investigators; Muir K, Lophatananon A, Chaiwerawattana A, Wiangnon S, Macgregor S, Easton DF, Reddel RR, Goode EL, Chenevix-Trench G; Ovarian Cancer Association Consortium. Beesley J, et al. Among authors: macgregor s. PLoS One. 2011;6(9):e24987. doi: 10.1371/journal.pone.0024987. Epub 2011 Sep 15. PLoS One. 2011. PMID: 21949822 Free PMC article.
Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3.
Macgregor S, Montgomery GW, Liu JZ, Zhao ZZ, Henders AK, Stark M, Schmid H, Holland EA, Duffy DL, Zhang M, Painter JN, Nyholt DR, Maskiell JA, Jetann J, Ferguson M, Cust AE, Jenkins MA, Whiteman DC, Olsson H, Puig S, Bianchi-Scarrà G, Hansson J, Demenais F, Landi MT, Dębniak T, Mackie R, Azizi E, Bressac-de Paillerets B, Goldstein AM, Kanetsky PA, Gruis NA, Elder DE, Newton-Bishop JA, Bishop DT, Iles MM, Helsing P, Amos CI, Wei Q, Wang LE, Lee JE, Qureshi AA, Kefford RF, Giles GG, Armstrong BK, Aitken JF, Han J, Hopper JL, Trent JM, Brown KM, Martin NG, Mann GJ, Hayward NK. Macgregor S, et al. Nat Genet. 2011 Oct 9;43(11):1114-8. doi: 10.1038/ng.958. Nat Genet. 2011. PMID: 21983785 Free PMC article.
Genome-wide association study for ovarian cancer susceptibility using pooled DNA.
Lu Y, Chen X, Beesley J, Johnatty SE, deFazio A; AOCS Study group; Lambrechts S, Lambrechts D, Despierre E, Vergotes I, Chang-Claude J, Hein R, Nickels S, Wang-Gohrke S, Dörk T, Dürst M, Antonenkova N, Bogdanova N, Goodman MT, Lurie G, Wilkens LR, Carney ME, Butzow R, Nevanlinna H, Heikkinen T, Leminen A, Kiemeney LA, Massuger LFAG, van Altena AM, Aben KK, Kjaer SK, Høgdall E, Jensen A, Brooks-Wilson A, Le N, Cook L, Earp M, Kelemen L, Easton D, Pharoah P, Song H, Tyrer J, Ramus S, Menon U, Gentry-Maharaj A, Gayther SA, Bandera EV, Olson SH, Orlow I, Rodriguez-Rodriguez L, Macgregor S, Chenevix-Trench G. Lu Y, et al. Among authors: macgregor s. Twin Res Hum Genet. 2012 Oct;15(5):615-623. doi: 10.1017/thg.2012.38. Epub 2012 Jul 13. Twin Res Hum Genet. 2012. PMID: 22794196 Free PMC article.
ABCB1 (MDR1) polymorphisms and ovarian cancer progression and survival: a comprehensive analysis from the Ovarian Cancer Association Consortium and The Cancer Genome Atlas.
Johnatty SE, Beesley J, Gao B, Chen X, Lu Y, Law MH, Henderson MJ, Russell AJ, Hedditch EL, Emmanuel C, Fereday S, Webb PM; Australian Ovarian Cancer Study Group; Goode EL, Vierkant RA, Fridley BL, Cunningham JM, Fasching PA, Beckmann MW, Ekici AB, Hogdall E, Kjaer SK, Jensen A, Hogdall C, Brown R, Paul J, Lambrechts S, Despierre E, Vergote I, Lester J, Karlan BY, Heitz F, du Bois A, Harter P, Schwaab I, Bean Y, Pejovic T, Levine DA, Goodman MT, Camey ME, Thompson PJ, Lurie G, Shildkraut J, Berchuck A, Terry KL, Cramer DW, Norris MD, Haber M, MacGregor S, deFazio A, Chenevix-Trench G. Johnatty SE, et al. Among authors: macgregor s. Gynecol Oncol. 2013 Oct;131(1):8-14. doi: 10.1016/j.ygyno.2013.07.107. Epub 2013 Aug 1. Gynecol Oncol. 2013. PMID: 23917080 Free PMC article.
Most common 'sporadic' cancers have a significant germline genetic component.
Lu Y, Ek WE, Whiteman D, Vaughan TL, Spurdle AB, Easton DF, Pharoah PD, Thompson DJ, Dunning AM, Hayward NK, Chenevix-Trench G; Q-MEGA and AMFS Investigators; ANECS-SEARCH; UKOPS-SEARCH; BEACON Consortium; Macgregor S. Lu Y, et al. Among authors: macgregor s. Hum Mol Genet. 2014 Nov 15;23(22):6112-8. doi: 10.1093/hmg/ddu312. Epub 2014 Jun 18. Hum Mol Genet. 2014. PMID: 24943595 Free PMC article.
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