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Genetic analyses of gynecological disease identify genetic relationships between uterine fibroids and endometrial cancer, and a novel endometrial cancer genetic risk region at the WNT4 1p36.12 locus.
Hum Genet. 2021 Sep;140(9):1353-1365. doi: 10.1007/s00439-021-02312-0. Epub 2021 Jul 15.
Hum Genet. 2021.
PMID: 34268601
Mendelian randomization analyses suggest a role for cholesterol in the development of endometrial cancer.
Kho PF, Amant F, Annibali D, Ashton K, Attia J, Auer PL, Beckmann MW, Black A, Brinton L, Buchanan DD, Chanock SJ, Chen C, Chen MM, Cheng THT, Cook LS, Crous-Bous M, Czene K, De Vivo I, Dennis J, Dörk T, Dowdy SC, Dunning AM, Dürst M, Easton DF, Ekici AB, Fasching PA, Fridley BL, Friedenreich CM, García-Closas M, Gaudet MM, Giles GG, Goode EL, Gorman M, Haiman CA, Hall P, Hankinson SE, Hein A, Hillemanns P, Hodgson S, Hoivik EA, Holliday EG, Hunter DJ, Jones A, Kraft P, Krakstad C, Lambrechts D, Le Marchand L, Liang X, Lindblom A, Lissowska J, Long J, Lu L, Magliocco AM, Martin L, McEvoy M, Milne RL, Mints M, Nassir R, Otton G, Palles C, Pooler L, Proietto T, Rebbeck TR, Renner SP, Risch HA, Rübner M, Runnebaum I, Sacerdote C, Sarto GE, Schumacher F, Scott RJ, Setiawan VW, Shah M, Sheng X, Shu XO, Southey MC, Tham E, Tomlinson I, Trovik J, Turman C, Tyrer JP, Van Den Berg D, Wang Z, Wentzensen N, Xia L, Xiang YB, Yang HP, Yu H, Zheng W, Webb PM, Thompson DJ, Spurdle AB, Glubb DM, O'Mara TA.
Kho PF, et al. Among authors: proietto t.
Int J Cancer. 2021 Jan 15;148(2):307-319. doi: 10.1002/ijc.33206. Epub 2020 Aug 7.
Int J Cancer. 2021.
PMID: 32851660
Free PMC article.
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Identification of nine new susceptibility loci for endometrial cancer.
O'Mara TA, Glubb DM, Amant F, Annibali D, Ashton K, Attia J, Auer PL, Beckmann MW, Black A, Bolla MK, Brauch H, Brenner H, Brinton L, Buchanan DD, Burwinkel B, Chang-Claude J, Chanock SJ, Chen C, Chen MM, Cheng THT, Clarke CL, Clendenning M, Cook LS, Couch FJ, Cox A, Crous-Bous M, Czene K, Day F, Dennis J, Depreeuw J, Doherty JA, Dörk T, Dowdy SC, Dürst M, Ekici AB, Fasching PA, Fridley BL, Friedenreich CM, Fritschi L, Fung J, García-Closas M, Gaudet MM, Giles GG, Goode EL, Gorman M, Haiman CA, Hall P, Hankison SE, Healey CS, Hein A, Hillemanns P, Hodgson S, Hoivik EA, Holliday EG, Hopper JL, Hunter DJ, Jones A, Krakstad C, Kristensen VN, Lambrechts D, Marchand LL, Liang X, Lindblom A, Lissowska J, Long J, Lu L, Magliocco AM, Martin L, McEvoy M, Meindl A, Michailidou K, Milne RL, Mints M, Montgomery GW, Nassir R, Olsson H, Orlow I, Otton G, Palles C, Perry JRB, Peto J, Pooler L, Prescott J, Proietto T, Rebbeck TR, Risch HA, Rogers PAW, Rübner M, Runnebaum I, Sacerdote C, Sarto GE, Schumacher F, Scott RJ, Setiawan VW, Shah M, Sheng X, Shu XO, Southey MC, Swerdlow AJ, Tham E, Trovik J, Turman C, Tyrer JP, Vachon C, VanDen Berg D, Vanderstichele A, Wang Z, Webb PM, Wentzensen …
See abstract for full author list ➔
O'Mara TA, et al. Among authors: proietto t.
Nat Commun. 2018 Aug 9;9(1):3166. doi: 10.1038/s41467-018-05427-7.
Nat Commun. 2018.
PMID: 30093612
Free PMC article.
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Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses.
Painter JN, O'Mara TA, Morris AP, Cheng THT, Gorman M, Martin L, Hodson S, Jones A, Martin NG, Gordon S, Henders AK, Attia J, McEvoy M, Holliday EG, Scott RJ, Webb PM, Fasching PA, Beckmann MW, Ekici AB, Hein A, Rübner M, Hall P, Czene K, Dörk T, Dürst M, Hillemanns P, Runnebaum I, Lambrechts D, Amant F, Annibali D, Depreeuw J, Vanderstichele A, Goode EL, Cunningham JM, Dowdy SC, Winham SJ, Trovik J, Hoivik E, Werner HMJ, Krakstad C, Ashton K, Otton G, Proietto T, Tham E, Mints M, Ahmed S, Healey CS, Shah M, Pharoah PDP, Dunning AM, Dennis J, Bolla MK, Michailidou K, Wang Q, Tyrer JP, Hopper JL, 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, Zondervan KT, Nyholt DR, MacGregor S, Montgomery GW, Tomlinson I, Easton DF, Thompson DJ, Spurdle AB.
Painter JN, et al. Among authors: proietto t.
Cancer Med. 2018 May;7(5):1978-1987. doi: 10.1002/cam4.1445. Epub 2018 Apr 2.
Cancer Med. 2018.
PMID: 29608257
Free PMC article.
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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: proietto t.
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.
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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: proietto t.
Sci Rep. 2015 Dec 1;5:17369. doi: 10.1038/srep17369.
Sci Rep. 2015.
PMID: 26621817
Free PMC article.
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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: proietto t.
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.
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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: proietto t.
Endocr Relat Cancer. 2015 Oct;22(5):851-61. doi: 10.1530/ERC-15-0319.
Endocr Relat Cancer. 2015.
PMID: 26330482
Free PMC article.
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Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk.
Carvajal-Carmona LG, O'Mara TA, Painter JN, Lose FA, Dennis J, Michailidou K, Tyrer JP, Ahmed S, Ferguson K, Healey CS, Pooley K, Beesley J, Cheng T, Jones A, Howarth K, Martin L, Gorman M, Hodgson S; National Study of Endometrial Cancer Genetics Group (NSECG); Australian National Endometrial Cancer Study Group (ANECS); Wentzensen N, Fasching PA, Hein A, Beckmann MW, Renner SP, Dörk T, Hillemanns P, Dürst M, Runnebaum I, Lambrechts D, Coenegrachts L, Schrauwen S, Amant F, Winterhoff B, Dowdy SC, Goode EL, Teoman A, Salvesen HB, Trovik J, Njolstad TS, Werner HM, Scott RJ, Ashton K, Proietto T, Otton G, Wersäll O, Mints M, Tham E; RENDOCAS; Hall P, Czene K, Liu J, Li J, Hopper JL, Southey MC; Australian Ovarian Cancer Study (AOCS); Ekici AB, Ruebner M, Johnson N, Peto J, Burwinkel B, Marme F, Brenner H, Dieffenbach AK, Meindl A, Brauch H; GENICA Network; Lindblom A, Depreeuw J, Moisse M, Chang-Claude J, Rudolph A, Couch FJ, Olson JE, Giles GG, Bruinsma F, Cunningham JM, Fridley BL, Børresen-Dale AL, Kristensen VN, Cox A, Swerdlow AJ, Orr N, Bolla MK, Wang Q, Weber RP, Chen Z, Shah M, Pharoah PD, Dunning AM, Tomlinson I, Easton DF, Spurdle AB, Thompson DJ.
Carvajal-Carmona LG, et al. Among authors: proietto t.
Hum Genet. 2015 Feb;134(2):231-45. doi: 10.1007/s00439-014-1515-4. Epub 2014 Dec 9.
Hum Genet. 2015.
PMID: 25487306
Free PMC article.
Clinical Trial.
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Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk.
Painter JN, O'Mara TA, Batra J, Cheng T, Lose FA, Dennis J, Michailidou K, Tyrer JP, Ahmed S, Ferguson K, Healey CS, Kaufmann S, Hillman KM, Walpole C, Moya L, Pollock P, Jones A, Howarth K, Martin L, Gorman M, Hodgson S; National Study of Endometrial Cancer Genetics Group (NSECG); CHIBCHA Consortium; De Polanco MM, Sans M, Carracedo A, Castellvi-Bel S, Rojas-Martinez A, Santos E, Teixeira MR, Carvajal-Carmona L, Shu XO, Long J, Zheng W, Xiang YB; Australian National Endometrial Cancer Study Group (ANECS); Montgomery GW, Webb PM, Scott RJ, McEvoy M, Attia J, Holliday E, Martin NG, Nyholt DR, Henders AK, Fasching PA, Hein A, Beckmann MW, Renner SP, Dörk T, Hillemanns P, Dürst M, Runnebaum I, Lambrechts D, Coenegrachts L, Schrauwen S, Amant F, Winterhoff B, Dowdy SC, Goode EL, Teoman A, Salvesen HB, Trovik J, Njolstad TS, Werner HM, Ashton K, Proietto T, Otton G, Tzortzatos G, Mints M, Tham E; RENDOCAS; Hall P, Czene K, Liu J, Li J, Hopper JL, Southey MC; Australian Ovarian Cancer Study (AOCS); Ekici AB, Ruebner M, Johnson N, Peto J, Burwinkel B, Marme F, Brenner H, Dieffenbach AK, Meindl A, Brauch H; GENICA Network; Lindblom A, Depreeuw J, Moisse M, Chang-Claude J, Rudolph A…
See abstract for full author list ➔
Painter JN, et al. Among authors: proietto t.
Hum Mol Genet. 2015 Mar 1;24(5):1478-92. doi: 10.1093/hmg/ddu552. Epub 2014 Nov 6.
Hum Mol Genet. 2015.
PMID: 25378557
Free PMC article.
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