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Page 1
A Common Variant at the 14q32 Endometrial Cancer Risk Locus Activates AKT1 through YY1 Binding.
Painter JN, Kaufmann S, O'Mara TA, Hillman KM, Sivakumaran H, Darabi H, Cheng THT, Pearson J, Kazakoff S, Waddell N, Hoivik EA, Goode EL, Scott RJ, Tomlinson I, Dunning AM, Easton DF, French JD, Salvesen HB, Pollock PM, Thompson DJ, Spurdle AB, Edwards SL. Painter JN, et al. Among authors: darabi h. Am J Hum Genet. 2016 Jun 2;98(6):1159-1169. doi: 10.1016/j.ajhg.2016.04.012. Am J Hum Genet. 2016. PMID: 27259051 Free PMC article.
Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1.
Glubb DM, Maranian MJ, Michailidou K, Pooley KA, Meyer KB, Kar S, Carlebur S, O'Reilly M, Betts JA, Hillman KM, Kaufmann S, Beesley J, Canisius S, Hopper JL, Southey MC, Tsimiklis H, Apicella C, Schmidt MK, Broeks A, Hogervorst FB, van der Schoot CE, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Fasching PA, Ruebner M, Ekici AB, Beckmann MW, Peto J, dos-Santos-Silva I, Fletcher O, Johnson N, Pharoah PD, Bolla MK, Wang Q, Dennis J, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Burwinkel B, Marme F, Yang R, Surowy H, Guénel P, Truong T, Menegaux F, Sanchez M, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, González-Neira A, Benitez J, Zamora MP, Arias Perez JI, Anton-Culver H, Neuhausen SL, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Meindl A, Schmutzler RK, Brauch H, Ko YD, Brüning T; GENICA Network; Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Matsuo K, Ito H, Iwata H, Tanaka H, Dörk T, Bogdanova NV, Helbig S, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM; kConFab Investigators; Wu AH, Tseng CC, Van Den Berg D, Stram DO, Lambrechts D, Zhao H, Weltens C, van Limbergen E, Chang-Claude J, Flesch-Janys D, Rudolph A, Seibold P, Radic… See abstract for full author list ➔ Glubb DM, et al. Among authors: darabi h. Am J Hum Genet. 2015 Jan 8;96(1):5-20. doi: 10.1016/j.ajhg.2014.11.009. Epub 2014 Dec 18. Am J Hum Genet. 2015. PMID: 25529635 Free PMC article.
Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression.
Darabi H, McCue K, Beesley J, Michailidou K, Nord S, Kar S, Humphreys K, Thompson D, Ghoussaini M, Bolla MK, Dennis J, Wang Q, Canisius S, Scott CG, Apicella C, Hopper JL, Southey MC, Stone J, Broeks A, Schmidt MK, Scott RJ, Lophatananon A, Muir K, Beckmann MW, Ekici AB, Fasching PA, Heusinger K, Dos-Santos-Silva I, Peto J, Tomlinson I, Sawyer EJ, Burwinkel B, Marme F, Guénel P, Truong T, Bojesen SE, Flyger H, Benitez J, González-Neira A, Anton-Culver H, Neuhausen SL, Arndt V, Brenner H, Engel C, Meindl A, Schmutzler RK; German Consortium of Hereditary Breast and Ovarian Cancer; Arnold N, Brauch H, Hamann U, Chang-Claude J, Khan S, Nevanlinna H, Ito H, Matsuo K, Bogdanova NV, Dörk T, Lindblom A, Margolin S; kConFab/AOCS Investigators; Kosma VM, Mannermaa A, Tseng CC, Wu AH, Floris G, Lambrechts D, Rudolph A, Peterlongo P, Radice P, Couch FJ, Vachon C, Giles GG, McLean C, Milne RL, Dugué PA, Haiman CA, Maskarinec G, Woolcott C, Henderson BE, Goldberg MS, Simard J, Teo SH, Mariapun S, Helland Å, Haakensen V, Zheng W, Beeghly-Fadiel A, Tamimi R, Jukkola-Vuorinen A, Winqvist R, Andrulis IL, Knight JA, Devilee P, Tollenaar RA, Figueroa J, García-Closas M, Czene K, Hooning MJ, Ti… See abstract for full author list ➔ Darabi H, et al. Am J Hum Genet. 2015 Jul 2;97(1):22-34. doi: 10.1016/j.ajhg.2015.05.002. Epub 2015 Jun 11. Am J Hum Genet. 2015. PMID: 26073781 Free PMC article.
Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer.
O'Mara TA, Glubb DM, Painter JN, Cheng T, Dennis J; Australian National Endometrial Cancer Study Group (ANECS); Attia J, Holliday EG, McEvoy M, Scott RJ, Ashton K, Proietto T, Otton G, Shah M, Ahmed S, Healey CS, Gorman M, Martin L; National Study of Endometrial Cancer Genetics Group (NSECG); Hodgson S, Fasching PA, Hein A, Beckmann MW, Ekici AB, Hall P, Czene K, Darabi H, Li J, Dürst M, Runnebaum I, Hillemanns P, Dörk T, Lambrechts D, Depreeuw J, Annibali D, Amant F, Zhao H, Goode EL, Dowdy SC, Fridley BL, Winham SJ, Salvesen HB, Njølstad TS, Trovik J, Werner HM, Tham E, Liu T, Mints M; RENDOCAS; Bolla MK, Michailidou K, Tyrer JP, Wang Q, Hopper JL; AOCS Group; Peto J, Swerdlow AJ, Burwinkel B, Brenner H, Meindl A, Brauch H, Lindblom A, Chang-Claude J, Couch FJ, Giles GG, Kristensen VN, Cox A, Pharoah PD, Dunning AM, Tomlinson I, Easton DF, Thompson DJ, Spurdle AB. O'Mara TA, et al. Among authors: darabi h. Endocr Relat Cancer. 2015 Oct;22(5):851-61. doi: 10.1530/ERC-15-0319. Endocr Relat Cancer. 2015. PMID: 26330482 Free PMC article.
CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer.
Thompson DJ, O'Mara TA, Glubb DM, Painter JN, Cheng T, Folkerd E, Doody D, Dennis J, Webb PM; Australian National Endometrial Cancer Study Group (ANECS); Gorman M, Martin L, Hodgson S; National Study of Endometrial Cancer Genetics Group (NSECG); Michailidou K, Tyrer JP, Maranian MJ, Hall P, Czene K, Darabi H, Li J, Fasching PA, Hein A, Beckmann MW, Ekici AB, Dörk T, Hillemanns P, Dürst M, Runnebaum I, Zhao H, Depreeuw J, Schrauwen S, Amant F, Goode EL, Fridley BL, Dowdy SC, Winham SJ, Salvesen HB, Trovik J, Njolstad TS, Werner HM, Ashton K, Proietto T, Otton G, Carvajal-Carmona L, Tham E, Liu T, Mints M; for RENDOCAS; Scott RJ, McEvoy M, Attia J, Holliday EG, Montgomery GW, Martin NG, Nyholt DR, Henders AK, Hopper JL, Traficante N; AOCS Group; Ruebner M, Swerdlow AJ, Burwinkel B, Brenner H, Meindl A, Brauch H, Lindblom A, Lambrechts D, Chang-Claude J, Couch FJ, Giles GG, Kristensen VN, Cox A, Bolla MK, Wang Q, Bojesen SE, Shah M, Luben R, Khaw KT, Pharoah PD, Dunning AM, Tomlinson I, Dowsett M, Easton DF, Spurdle AB. Thompson DJ, et al. Among authors: darabi h. Endocr Relat Cancer. 2016 Feb;23(2):77-91. doi: 10.1530/ERC-15-0386. Epub 2015 Nov 16. Endocr Relat Cancer. 2016. PMID: 26574572 Free PMC article.
Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium.
Lei J, Rudolph A, Moysich KB, Behrens S, Goode EL, Bolla MK, Dennis J, Dunning AM, Easton DF, Wang Q, Benitez J, Hopper JL, Southey MC, Schmidt MK, Broeks A, Fasching PA, Haeberle L, Peto J, Dos-Santos-Silva I, Sawyer EJ, Tomlinson I, Burwinkel B, Marmé F, Guénel P, Truong T, Bojesen SE, Flyger H, Nielsen SF, Nordestgaard BG, González-Neira A, Menéndez P, Anton-Culver H, Neuhausen SL, Brenner H, Arndt V, Meindl A, Schmutzler RK, Brauch H, Hamann U, Nevanlinna H, Fagerholm R, Dörk T, Bogdanova NV, Mannermaa A, Hartikainen JM; Australian Ovarian Study Group; kConFab Investigators; Van Dijck L, Smeets A, Flesch-Janys D, Eilber U, Radice P, Peterlongo P, Couch FJ, Hallberg E, Giles GG, Milne RL, Haiman CA, Schumacher F, Simard J, Goldberg MS, Kristensen V, Borresen-Dale AL, Zheng W, Beeghly-Fadiel A, Winqvist R, Grip M, Andrulis IL, Glendon G, García-Closas M, Figueroa J, Czene K, Brand JS, Darabi H, Eriksson M, Hall P, Li J, Cox A, Cross SS, Pharoah PD, Shah M, Kabisch M, Torres D, Jakubowska A, Lubinski J, Ademuyiwa F, Ambrosone CB, Swerdlow A, Jones M, Chang-Claude J. Lei J, et al. Among authors: darabi h. Hum Genet. 2016 Jan;135(1):137-54. doi: 10.1007/s00439-015-1616-8. Epub 2015 Nov 30. Hum Genet. 2016. PMID: 26621531 Free PMC article.
Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.
Cheng TH, Thompson D, Painter J, O'Mara T, Gorman M, Martin L, Palles C, Jones A, Buchanan DD, Win AK, Hopper J, Jenkins M, Lindor NM, Newcomb PA, Gallinger S, Conti D, Schumacher F, Casey G, Giles GG, Pharoah P, Peto J, Cox A, Swerdlow A, Couch F, Cunningham JM, Goode EL, Winham SJ, Lambrechts D, Fasching P, Burwinkel B, Brenner H, Brauch H, Chang-Claude J, Salvesen HB, Kristensen V, Darabi H, Li J, Liu T, Lindblom A, Hall P, de Polanco ME, Sans M, Carracedo A, Castellvi-Bel S, Rojas-Martinez A, Aguiar Jnr S, Teixeira MR, Dunning AM, Dennis J, Otton G, Proietto T, Holliday E, Attia J, Ashton K, Scott RJ, McEvoy M, Dowdy SC, Fridley BL, Werner HM, Trovik J, Njolstad TS, Tham E, Mints M, Runnebaum I, Hillemanns P, Dörk T, Amant F, Schrauwen S, Hein A, Beckmann MW, Ekici A, Czene K, Meindl A, Bolla MK, Michailidou K, Tyrer JP, Wang Q, Ahmed S, Healey CS, Shah M, Annibali D, Depreeuw J, Al-Tassan NA, Harris R, Meyer BF, Whiffin N, Hosking FJ, Kinnersley B, Farrington SM, Timofeeva M, Tenesa A, Campbell H, Haile RW, Hodgson S, Carvajal-Carmona L, Cheadle JP, Easton D, Dunlop M, Houlston R, Spurdle A, Tomlinson I. Cheng TH, et al. Among authors: darabi h. Sci Rep. 2015 Dec 1;5:17369. doi: 10.1038/srep17369. Sci Rep. 2015. PMID: 26621817 Free PMC article.
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 … See abstract for full author list ➔ Dunning AM, et al. Among authors: darabi h. 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.
Five endometrial cancer risk loci identified through genome-wide association analysis.
Cheng TH, Thompson DJ, O'Mara TA, Painter JN, Glubb DM, Flach S, Lewis A, French JD, Freeman-Mills L, Church D, Gorman M, Martin L; National Study of Endometrial Cancer Genetics Group (NSECG); Hodgson S, Webb PM; Australian National Endometrial Cancer Study Group (ANECS); Attia J, Holliday EG, McEvoy M, Scott RJ, Henders AK, Martin NG, Montgomery GW, Nyholt DR, Ahmed S, Healey CS, Shah M, Dennis J, Fasching PA, Beckmann MW, Hein A, Ekici AB, Hall P, Czene K, Darabi H, Li J, Dörk T, Dürst M, Hillemanns P, Runnebaum I, Amant F, Schrauwen S, Zhao H, Lambrechts D, Depreeuw J, Dowdy SC, Goode EL, Fridley BL, Winham SJ, Njølstad TS, Salvesen HB, Trovik J, Werner HM, Ashton K, Otton G, Proietto T, Liu T, Mints M, Tham E; RENDOCAS; Consortium C, Jun Li M, Yip SH, Wang J, Bolla MK, Michailidou K, Wang Q, Tyrer JP, Dunlop M, Houlston R, Palles C, Hopper JL; AOCS Group; Peto J, Swerdlow AJ, Burwinkel B, Brenner H, Meindl A, Brauch H, Lindblom A, Chang-Claude J, Couch FJ, Giles GG, Kristensen VN, Cox A, Cunningham JM, Pharoah PDP, Dunning AM, Edwards SL, Easton DF, Tomlinson I, Spurdle AB. Cheng TH, et al. Among authors: darabi h. Nat Genet. 2016 Jun;48(6):667-674. doi: 10.1038/ng.3562. Epub 2016 May 2. Nat Genet. 2016. PMID: 27135401 Free PMC article.
An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression.
Wyszynski A, Hong CC, Lam K, Michailidou K, Lytle C, Yao S, Zhang Y, Bolla MK, Wang Q, Dennis J, Hopper JL, Southey MC, Schmidt MK, Broeks A, Muir K, Lophatananon A, Fasching PA, Beckmann MW, Peto J, Dos-Santos-Silva I, Sawyer EJ, Tomlinson I, Burwinkel B, Marme F, Guénel P, Truong T, Bojesen SE, Nordestgaard BG, González-Neira A, Benitez J, Neuhausen SL, Brenner H, Dieffenbach AK, Meindl A, Schmutzler RK, Brauch H; GENICA Network; Nevanlinna H, Khan S, Matsuo K, Ito H, Dörk T, Bogdanova NV, Lindblom A, Margolin S, Mannermaa A, Kosma VM; kConFab Investigators; Australian Ovarian Cancer Study Group; Wu AH, Van Den Berg D, Lambrechts D, Wildiers H, Chang-Claude J, Rudolph A, Radice P, Peterlongo P, Couch FJ, Olson JE, Giles GG, Milne RL, Haiman CA, Henderson BE, Dumont M, Teo SH, Wong TY, Kristensen V, Zheng W, Long J, Winqvist R, Pylkäs K, Andrulis IL, Knight JA, Devilee P, Seynaeve C, García-Closas M, Figueroa J, Klevebring D, Czene K, Hooning MJ, van den Ouweland AM, Darabi H, Shu XO, Gao YT, Cox A, Blot W, Signorello LB, Shah M, Kang D, Choi JY, Hartman M, Miao H, Hamann U, Jakubowska A, Lubinski J, Sangrajrang S, McKay J, Toland AE, Yannoukakos D, Shen CY, Wu PE, Swerdlo… See abstract for full author list ➔ Wyszynski A, et al. Among authors: darabi h. Hum Mol Genet. 2016 Sep 1;25(17):3863-3876. doi: 10.1093/hmg/ddw223. Epub 2016 Jul 11. Hum Mol Genet. 2016. PMID: 27402876 Free PMC article.
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