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Page 1
Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition.
Moir-Meyer GL, Pearson JF, Lose F; Australian National Endometrial Cancer Study Group; Scott RJ, McEvoy M, Attia J, Holliday EG; Hunter Community Study; Studies of Epidemiology and Risk Factors in Cancer Heredity; Pharoah PD, Dunning AM, Thompson DJ, Easton DF, Spurdle AB, Walker LC. Moir-Meyer GL, et al. Among authors: thompson dj. Hum Genet. 2015 Mar;134(3):269-78. doi: 10.1007/s00439-014-1507-4. Epub 2014 Nov 9. Hum Genet. 2015. PMID: 25381466
Genome-wide association study identifies a common variant associated with risk of endometrial cancer.
Spurdle AB, Thompson DJ, Ahmed S, Ferguson K, Healey CS, O'Mara T, Walker LC, Montgomery SB, Dermitzakis ET; Australian National Endometrial Cancer Study Group; Fahey P, Montgomery GW, Webb PM, Fasching PA, Beckmann MW, Ekici AB, Hein A, Lambrechts D, Coenegrachts L, Vergote I, Amant F, Salvesen HB, Trovik J, Njolstad TS, Helland H, Scott RJ, Ashton K, Proietto T, Otton G; National Study of Endometrial Cancer Genetics Group; Tomlinson I, Gorman M, Howarth K, Hodgson S, Garcia-Closas M, Wentzensen N, Yang H, Chanock S, Hall P, Czene K, Liu J, Li J, Shu XO, Zheng W, Long J, Xiang YB, Shah M, Morrison J, Michailidou K, Pharoah PD, Dunning AM, Easton DF. Spurdle AB, et al. Among authors: thompson dj. Nat Genet. 2011 May;43(5):451-4. doi: 10.1038/ng.812. Epub 2011 Apr 17. Nat Genet. 2011. PMID: 21499250 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: thompson dj. 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.
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, Couch… See abstract for full author list ➔ Painter JN, et al. Among authors: thompson dj. 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.
GWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer.
Chen MM, O'Mara TA, Thompson DJ, Painter JN; Australian National Endometrial Cancer Study Group (ANECS); Attia J, Black A, Brinton L, Chanock S, Chen C, Cheng TH, Cook LS, Crous-Bou M, Doherty J, Friedenreich CM, Garcia-Closas M, Gaudet MM, Gorman M, Haiman C, Hankinson SE, Hartge P, Henderson BE, Hodgson S, Holliday EG, Horn-Ross PL, Hunter DJ, Le Marchand L, Liang X, Lissowska J, Long J, Lu L, Magliocco AM, Martin L, McEvoy M; National Study Of Endometrial Cancer Genetics Group (NSECG); Olson SH, Orlow I, Pooler L, Prescott J, Rastogi R, Rebbeck TR, Risch H, Sacerdote C, Schumacher F, Wendy Setiawan V, Scott RJ, Sheng X, Shu XO, Turman C, Van Den Berg D, Wang Z, Weiss NS, Wentzensen N, Xia L, Xiang YB, Yang HP, Yu H, Zheng W, Pharoah PD, Dunning AM, Tomlinson I, Easton DF, Kraft P, Spurdle AB, De Vivo I. Chen MM, et al. Among authors: thompson dj. Hum Mol Genet. 2016 Jun 15;25(12):2612-2620. doi: 10.1093/hmg/ddw092. Epub 2016 Mar 23. Hum Mol Genet. 2016. PMID: 27008869 Free PMC article.
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: thompson dj. 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.
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.
Kho PF, Mortlock S; Endometrial Cancer Association Consortium; International Endometriosis Genetics Consortium; Rogers PAW, Nyholt DR, Montgomery GW, Spurdle AB, Glubb DM, O'Mara TA. Kho PF, et al. Hum Genet. 2021 Sep;140(9):1353-1365. doi: 10.1007/s00439-021-02312-0. Epub 2021 Jul 15. Hum Genet. 2021. PMID: 34268601
CHEK2, MGMT, SULT1E1 and SULT1A1 polymorphisms and endometrial cancer risk.
O'Mara TA, Ferguson K, Fahey P, Marquart L, Yang HP, Lissowska J, Chanock S, Garcia-Closas M, Thompson DJ, Healey CS, Dunning AM, Easton DF; ANECS; Webb PM, Spurdle AB. O'Mara TA, et al. Among authors: thompson dj. Twin Res Hum Genet. 2011 Aug;14(4):328-32. doi: 10.1375/twin.14.4.328. Twin Res Hum Genet. 2011. PMID: 21787115 Free PMC article.
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: thompson dj. 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.
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: thompson dj. 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.
380 results