Exome-wide association study of endometrial cancer in a multiethnic population

PLoS ONE

Volumn 9, Issue 5, 2014, Pages

  Chen, Maxine M ^a   Crous Bou, Marta ^a,b   Setiawan, Veronica W ^c   Prescott, Jennifer ^b   Olson, Sara H ^d   Wentzensen, Nicolas ^e   Black, Amanda ^e   Brinton, Louise ^e   Chen, Chu ^f   Chen, Constance ^a   Cook, Linda S ^g,h   Doherty, Jennifer ⁱ   Friedenreich, Christine M ^h   Hankinson, Susan E ^b,j   Hartge, Patricia ^e   Henderson, Brian E ^c   Hunter, David J ^a   Le Marchand, Loic ^k   Liang, Xiaolin ^d   Lissowska, Jolanta ^l   Lu, Lingeng ^m   Orlow, Irene ^d   Petruzella, Stacey ^d   Polidoro, Silvia ^n,o   Pooler, Loreall ^c   Rebbeck, Timothy R ^p   Risch, Harvey ^m   Sacerdote, Carlotta ^n,o   Schumacher, Frederick ^q   Sheng, Xin ^c   Shu, Xiao Ou ^r   Weiss, Noel S ^s   Xia, Lucy ^c   Van Den Berg, David ^c   Yang, Hannah P ^e   Yu, Herbert ^k   Chanock, Stephen ^e   Haiman, Christopher ^c   Kraft, Peter ^a   De Vivo, Immaculata ^a,b   more..

^a HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^d MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^e NATIONAL CANCER INSTITUTE   (United States)

^f Fred Hutchinson Cancer Research Center   (United States)

^g UNIVERSITY OF NEW MEXICO   (United States)

^h ALBERTA HEALTH SERVICES   (Canada)

ⁱ DARTMOUTH MEDICAL SCHOOL   (United States)

^j UNIVERSITY OF MASSACHUSETTS   (United States)

^k UNIVERSITY OF HAWAII CANCER CENTER   (United States)

^l INSTITUTE OF ONCOLOGY   (Poland)

^m YALE UNIVERSITY   (United States)

ⁿ Center for Cancer Prevention   (Italy)

^o Human Genetics Foundation (HuGeF)   (Italy)

^p UNIVERSITY OF PENNSYLVANIA   (United States)

^q CANCER PREVENTION INSTITUTE OF CALIFORNIA   (United States)

^r VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^s UNIVERSITY OF WASHINGTON   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CANCER RISK; CARCINOGENESIS; CASE CONTROL STUDY; CONTROLLED STUDY; ENDOMETRIUM CANCER; ETHNIC DIFFERENCE; ETHNICITY; EXOME WIDE ASSOCIATION STUDY; FEMALE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; AGED; ENDOMETRIUM TUMOR; ETHNOLOGY; EXOME; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED;

AGED; ENDOMETRIAL NEOPLASMS; EXOME; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MIDDLE AGED;

EID: 84901049649     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0097045     Document Type: Article

References (34)

1. Jemal A, Bray F, Center MM, Ferlay J, Ward E, et al. (2011) Global cancer statistics. CA Cancer J Clin 61: 69-90. doi: 10.3322/caac.20107.
2. Bray F, Ren JS, Masuyer E, Ferlay J (2013) Global estimates of cancer prevalence for 27 sites in the adult population in 2008. Int J Cancer 132: 1133-1145. doi: 10.1002/ijc.27711.
3. American Cancer Society. (2013) Cancer Facts & Figures 2013. American Cancer Society, Atlanta.
4. Persson I, Adami HO, Bergkvist L, Lindgren A, Pettersson B, et al. (1989) Risk of endometrial cancer after treatment with oestrogens alone or in conjunction with progestogens: results of a prospective study. BMJ 298: 147-151. (Pubitemid 19039672)
5. Grady D, Gebretsadik T, Kerlikowske K, Ernster V, Petitti D (1995) Hormone replacement therapy and endometrial cancer risk: a meta-analysis. Obstet Gynecol 85: 304-313. doi: 10.1016/0029-7844(94)00383-o.
6. Bergstrom A, Pisani P, Tenet V, Wolk A, Adami HO (2001) Overweight as an avoidable cause of cancer in Europe. Int J Cancer 91: 421-430. (Pubitemid 32049639)
7. Schmandt RE, Iglesias DA, Co NN, Lu KH (2011) Understanding obesity and endometrial cancer risk: opportunities for prevention. Am J Obstet Gynecol 205: 518-525. doi: 10.1016/j.ajog.2011.05.042.
8. Kaaks R, Lukanova A, Kurzer MS (2002) Obesity, endogenous hormones, and endometrial cancer risk: a synthetic review. Cancer Epidemiol Biomarkers Prev 11: 1531-43. (Pubitemid 36020003)
9. Gruber SB, Thompson WD (1996) A population-based study of endometrial cancer and familial risk in younger women. Cancer and Steroid Hormone Study Group. Cancer Epidemiol Biomarkers Prev 5: 411-7. (Pubitemid 26182653)
10. Lucenteforte E, Talamini R, Montella M, Dal Maso L, Pelucchi C, et al. (2009) Family history of cancer and the risk of endometrial cancer. Eur J Cancer Prev 18: 95-99. doi: 10.1097/CEJ.0b013e328305a0c9.
11. Vasen HF, Watson P, Mecklin JP, Jass JR, Green JS, et al. (1994) The epidemiology of endometrial cancer in hereditary nonpolyposis colorectal cancer. Anticancer Res 14: 1675-1678. (Pubitemid 24357004)
12. Hindorff LA, MacArthur J, Morales J, Junkins HA, Hall PN, et al. (2009) A Catalog of Published Genome-Wide Association Studies. NHGRI. http://www.genome.gov/gwastudies. Accessed 14 May 2013.
13. Spurdle AB, Thompson DJ, Ahmed S, Ferguson K, Healey CS, et al. (2011) Genome-wide association study identifies a common variant associated with risk of endometrial cancer. Nat Genet 43: 451-454. doi: 10.1038/ng.812.
14. De Vivo I, Prescott J, Setiawan VW, Olson SH, Wentzensen N, et al. (2014) Genome-wide association study of endometrial cancer in E2C2. Hum Genet 133: 211-224. doi: 10.1007/s00439-013-1369-1.
15. Setiawan VW, Haessler J, Schumacher F, Cote ML, Deelman E, et al. (2012) HNF1B and endometrial cancer risk: results from the PAGE study. PLoS One 7: e30390. doi: 10.1371/journal.pone.0030390.
16. Long J, Zheng W, Xiang YB, Lose F, Thompson D, et al. (2012) Genome-wide association study identifies a possible susceptibility locus for endometrial cancer. Cancer Epidemiol Biomarkers Prev 21: 980-987. doi: 10.1158/1055-9965. epi-11-1160.
17. Zuk O, Hechter E, Sunyaev SR, Lander ES (2012) The mystery of missing heritability: Genetic interactions create phantom heritability. Proc Natl Acad Sci U S A 109: 1193-1198. doi: 10.1073/pnas.1119675109.
18. Gylfe AE, Katainen R, Kondelin J, Tanskanen T, Cajuso T, et al. (2013) Eleven candidate susceptibility genes for common familial colorectal cancer. PLoS Genet 9: e1003876. doi: 10.1371/journal.pgen.1003876.
19. Thompson ER, Doyle MA, Ryland GL, Rowley SM, Choong DY, et al. (2012) Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. PLoS Genet 8: e1002894. doi: 10.1371/journal.pgen.1002894.
20. Fitzgerald LM, Kumar A, Boyle EA, Zhang Y, McIntosh LM, et al. (2013) Germline missense variants in the BTNL2 gene are associated with prostate cancer susceptibility. Cancer Epidemiol Biomarkers Prev 22: 1520-1528. doi: 10.1158/1055-9965.epi-13-0345.
21. Olson SH, Chen C, De Vivo I, Doherty JA, Hartmuller V, et al. (2009) Maximizing resources to study an uncommon cancer: E2C2 - Epidemiology of Endometrial Cancer Consortium. Cancer Causes Control 20: 491-496. doi: 10.1007/s10552-008-9290-y.
22. Friedenreich CM, Cook LS, Magliocco AM, Duggan MA, Courneya KS (2010) Case-control study of lifetime total physical activity and endometrial cancer risk. Cancer Causes Control 21: 1105-1116. doi: 10.1007/s10552-010-9538-1.
23. Fortuny J, Sima C, Bayuga S, Wilcox H, Pulick K, et al. (2009) Risk of endometrial cancer in relation to medical conditions and medication use. Cancer Epidemiol Biomarkers Prev 18: 1448-1456. doi: 10.1158/1055-9965.epi-08-0936.
24. Kolonel LN, Henderson BE, Hankin JH, Nomura AM, Wilkens LR, et al. (2000) A multiethnic cohort in Hawaii and Los Angeles: baseline characteristics. Am J Epidemiol 151: 346-357. (Pubitemid 30463612)
25. Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, et al. (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 38: 904-909. doi: 10.1038/ng1847. (Pubitemid 44141658)
26. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81: 559-575. doi: 10.1086/519795. (Pubitemid 47330214)
27. Lee S, Wu MC, Lin X (2012) Optimal tests for rare variant effects in sequencing association studies. Biostatistics 13: 762-775. doi: 10.1093/biostatistics/kxs014
28. Andersen BD, Bisgaard ML, Lind B, Philips M, Villoutreix B, et al. (2001) Characterization and structural impact of five novel PROS1 mutations in eleven protein S-deficient families. Thromb Haemost 86: 1392-1399. (Pubitemid 34007510)
29. Saraon P,Musrap N, Cretu D, Karagiannis GS, Batruch I, et al. (2012) Proteomic profiling of androgen-independent prostate cancer cell lines reveals a role for protein S during the development of high grade and castration-resistant prostate cancer. J Biol Chem 287: 34019-34031. doi: 10.1074/jbc.M112.384438.
30. Griffith OL, Melck A, Jones SJ, Wiseman SM (2006) Meta-analysis and meta-review of thyroid cancer gene expression profiling studies identifies important diagnostic biomarkers. J Clin Oncol 24: 5043-5051. doi: 10.1200/jco.2006.06.7330. (Pubitemid 46631408)
31. Hughes Q, Watson M, Cole V, Sayer M, Baker R, et al. (2007) Upregulation of protein S by progestins. J Thromb Haemost 5: 2243-2249. doi: 10.1111/j.1538-7836.2007.02730.x. (Pubitemid 47617877)
32. Suzuki A, Sanda N, Miyawaki Y, Fujimori Y, Yamada T, et al. (2010) Down-regulation of PROS1 gene expression by 17beta-estradiol via estrogen receptor alpha (ERalpha)-Sp1 interaction recruiting receptor-interacting protein 140 and the corepressor-HDAC3 complex. J Biol Chem 285: 13444-13453. doi: 10.1074/jbc.M109.062430.
33. Haiman CA, Han Y, Feng Y, Xia L, Hsu C, et al. (2013) Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population. PLoS Genet 9: e1003419. doi: 10.1371/journal.pgen.1003419.
34. Huyghe JR, Jackson AU, Fogarty MP, Buchkovich ML, Stancakova A, et al. (2013) Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion. Nat Genet 45: 197-201. doi: 10.1038/ng.2507.