Genome-wide association study of endometrial cancer in E2C2

Immaculata De Vivo; Jennifer Prescott; Veronica Wendy Setiawan; Sara H. Olson; Nicolas Wentzensen; John Attia; Amanda Black; Louise Brinton; Chu Chen; Constance Chen; Linda S. Cook; Marta Crous-Bou; Jennifer Doherty; Alison M. Dunning; Douglas F. Easton; Christine M. Friedenreich; Montserrat Garcia-Closas; Mia M. Gaudet; Christopher Haiman; Susan E. Hankinson; Patricia Hartge; Brian E. Henderson; Elizabeth Holliday; Pamela L. Horn-Ross; David J. Hunter; Loic Le Marchand; Xiaolin Liang; Jolanta Lissowska; Jirong Long; Lingeng Lu; Anthony M. Magliocco; Mark McEvoy; Tracy A. O'Mara; Irene Orlow; Jodie N. Painter; Loreall Pooler; Radhai Rastogi; Timothy R. Rebbeck; Harvey Risch; Carlotta Sacerdote; Fredrick Schumacher; Rodney J. Scott; Xin Sheng; Xiao Ou Shu; Amanda B. Spurdle; Deborah Thompson; David Vanden Berg; Noel S. Weiss; Lucy Xia; Yong Bing Xiang; Hannah P. Yang; Herbert Yu; Wei Zheng; Stephen Chanock; Peter Kraft

doi:10.1007/s00439-013-1369-1

Genome-wide association study of endometrial cancer in E2C2

Immaculata De Vivo, Jennifer Prescott, Veronica Wendy Setiawan, Sara H. Olson, Nicolas Wentzensen, John Attia, Amanda Black, Louise Brinton, Chu Chen, Constance Chen, Linda S. Cook, Marta Crous-Bou, Jennifer Doherty, Alison M. Dunning, Douglas F. Easton, Christine M. Friedenreich, Montserrat Garcia-Closas, Mia M. Gaudet, Christopher Haiman, Susan E. HankinsonPatricia Hartge, Brian E. Henderson, Elizabeth Holliday, Pamela L. Horn-Ross, David J. Hunter, Loic Le Marchand, Xiaolin Liang, Jolanta Lissowska, Jirong Long, Lingeng Lu, Anthony M. Magliocco, Mark McEvoy, Tracy A. O'Mara, Irene Orlow, Jodie N. Painter, Loreall Pooler, Radhai Rastogi, Timothy R. Rebbeck, Harvey Risch, Carlotta Sacerdote, Fredrick Schumacher, Rodney J. Scott, Xin Sheng, Xiao Ou Shu, Amanda B. Spurdle, Deborah Thompson, David Vanden Berg, Noel S. Weiss, Lucy Xia, Yong Bing Xiang, Hannah P. Yang, Herbert Yu, Wei Zheng, Stephen Chanock, Peter Kraft

Research output: Contribution to journal › Article › peer-review

32 Scopus citations

Abstract

Endometrial cancer (EC), a neoplasm of the uterine epithelial lining, is the most common gynecological malignancy in developed countries and the fourth most common cancer among US women. Women with a family history of EC have an increased risk for the disease, suggesting that inherited genetic factors play a role. We conducted a two-stage genome-wide association study of Type I EC. Stage 1 included 5,472 women (2,695 cases and 2,777 controls) of European ancestry from seven studies. We selected independent single-nucleotide polymorphisms (SNPs) that displayed the most significant associations with EC in Stage 1 for replication among 17,948 women (4,382 cases and 13,566 controls) in a multiethnic population (African America, Asian, Latina, Hawaiian and European ancestry), from nine studies. Although no novel variants reached genome-wide significance, we replicated previously identified associations with genetic markers near the HNF1B locus. Our findings suggest that larger studies with specific tumor classification are necessary to identify novel genetic polymorphisms associated with EC susceptibility.

Original language	English (US)
Pages (from-to)	211-224
Number of pages	14
Journal	Human genetics
Volume	133
Issue number	2
DOIs	https://doi.org/10.1007/s00439-013-1369-1
State	Published - Feb 2014
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1007/s00439-013-1369-1

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De Vivo, I., Prescott, J., Setiawan, V. W., Olson, S. H., Wentzensen, N., Attia, J., Black, A., Brinton, L., Chen, C., Chen, C., Cook, L. S., Crous-Bou, M., Doherty, J., Dunning, A. M., Easton, D. F., Friedenreich, C. M., Garcia-Closas, M., Gaudet, M. M., Haiman, C., ... Kraft, P. (2014). Genome-wide association study of endometrial cancer in E2C2. Human genetics, 133(2), 211-224. https://doi.org/10.1007/s00439-013-1369-1

De Vivo, I, Prescott, J, Setiawan, VW, Olson, SH, Wentzensen, N, Attia, J, Black, A, Brinton, L, Chen, C, Chen, C, Cook, LS, Crous-Bou, M, Doherty, J, Dunning, AM, Easton, DF, Friedenreich, CM, Garcia-Closas, M, Gaudet, MM, Haiman, C, Hankinson, SE, Hartge, P, Henderson, BE, Holliday, E, Horn-Ross, PL, Hunter, DJ, Le Marchand, L, Liang, X, Lissowska, J, Long, J, Lu, L, Magliocco, AM, McEvoy, M, O'Mara, TA, Orlow, I, Painter, JN, Pooler, L, Rastogi, R, Rebbeck, TR, Risch, H, Sacerdote, C, Schumacher, F, Scott, RJ, Sheng, X, Shu, XO, Spurdle, AB, Thompson, D, Vanden Berg, D, Weiss, NS, Xia, L, Xiang, YB, Yang, HP, Yu, H, Zheng, W, Chanock, S & Kraft, P 2014, 'Genome-wide association study of endometrial cancer in E2C2', Human genetics, vol. 133, no. 2, pp. 211-224. https://doi.org/10.1007/s00439-013-1369-1

@article{9d9328fc781b4b979415f4c83322438b,

title = "Genome-wide association study of endometrial cancer in E2C2",

abstract = "Endometrial cancer (EC), a neoplasm of the uterine epithelial lining, is the most common gynecological malignancy in developed countries and the fourth most common cancer among US women. Women with a family history of EC have an increased risk for the disease, suggesting that inherited genetic factors play a role. We conducted a two-stage genome-wide association study of Type I EC. Stage 1 included 5,472 women (2,695 cases and 2,777 controls) of European ancestry from seven studies. We selected independent single-nucleotide polymorphisms (SNPs) that displayed the most significant associations with EC in Stage 1 for replication among 17,948 women (4,382 cases and 13,566 controls) in a multiethnic population (African America, Asian, Latina, Hawaiian and European ancestry), from nine studies. Although no novel variants reached genome-wide significance, we replicated previously identified associations with genetic markers near the HNF1B locus. Our findings suggest that larger studies with specific tumor classification are necessary to identify novel genetic polymorphisms associated with EC susceptibility.",

author = "{De Vivo}, Immaculata and Jennifer Prescott and Setiawan, {Veronica Wendy} and Olson, {Sara H.} and Nicolas Wentzensen and John Attia and Amanda Black and Louise Brinton and Chu Chen and Constance Chen and Cook, {Linda S.} and Marta Crous-Bou and Jennifer Doherty and Dunning, {Alison M.} and Easton, {Douglas F.} and Friedenreich, {Christine M.} and Montserrat Garcia-Closas and Gaudet, {Mia M.} and Christopher Haiman and Hankinson, {Susan E.} and Patricia Hartge and Henderson, {Brian E.} and Elizabeth Holliday and Horn-Ross, {Pamela L.} and Hunter, {David J.} and {Le Marchand}, Loic and Xiaolin Liang and Jolanta Lissowska and Jirong Long and Lingeng Lu and Magliocco, {Anthony M.} and Mark McEvoy and O'Mara, {Tracy A.} and Irene Orlow and Painter, {Jodie N.} and Loreall Pooler and Radhai Rastogi and Rebbeck, {Timothy R.} and Harvey Risch and Carlotta Sacerdote and Fredrick Schumacher and Scott, {Rodney J.} and Xin Sheng and Shu, {Xiao Ou} and Spurdle, {Amanda B.} and Deborah Thompson and {Vanden Berg}, David and Weiss, {Noel S.} and Lucy Xia and Xiang, {Yong Bing} and Yang, {Hannah P.} and Herbert Yu and Wei Zheng and Stephen Chanock and Peter Kraft",

note = "Funding Information: The California Teachers Study (CTS) is supported by NCI, NIH Grant Number 2R01 CA082838, R01 CA91019 and R01 CA77398, and contract 97-10500 from the California Breast Cancer Research Fund. Funding Information: The Multiethnic Cohort Study (MEC) is supported by the NCI, NHI Grants Number CA54281, CA128008 and 2R01 CA082838. Funding Information: The Fred Hutchinson Cancer Research Center (FHCRC) is supported by NCI, NIH Grant Number 2R01 CA082838, NIH RO1 CA105212, RO1 CA 87538, RO1 CA75977, RO3 CA80636, NO1 HD23166, R35 CA39779, KO5 CA92002 and funds from the Fred Hutchinson Cancer Research Center. Funding Information: Cancer Institute of Canada with funds from the Canadian Cancer Society and the Canadian Institute for Health Research. The AHS is also supported by NCI, NIH Grant Number 2R01 CA082838. Dr Christine Friedenreich is supported by career awards from Alberta Innovates-Health Solutions and the Alberta Cancer Foundation through the Weekend to End Women{\textquoteright}s Cancers Breast Cancer Chair. Dr Linda Cook was supported through the Canada Research Chairs program. Funding Information: The Alberta Health Services Study (AHS) was supported by operating grants obtained from the National Funding Information: recruitment was funded by a program grant from Cancer Research UK [C490/A10124]. Case genotyping was supported by the National Health and Medical Research Council (ID#552402). Control data was generated by the Wellcome Trust Case Control Consortium (WTCCC), and a full list of the investigators who contributed to the generation of the data is available from the WTCCC website. We acknowledge use of DNA from the British 1958 Birth Cohort collection, funded by the Medical Research Council grant G0000934 and the Wellcome Trust grant 068545/Z/02. Funding for this project was provided by the Wellcome Trust under award 085475. Recruitment of the QIMR controls was supported by the National Health and Medical Research Council of Australia (NHMRC). The University of Newcastle, the Gladys M Brawn Senior Research Fellowship scheme, The Vincent Fairfax Family Foundation, the Hunter Medical Research Institute and the Hunter Area Pathology Service all contributed towards the costs of establishing the Hunter Community Study. A.B.S. is supported by the National Health and Medical Research Council (NHMRC) Fellowship Scheme. D.F.E. is a Principal Research Fellow of Cancer Research UK. A.M.D is supported by the Joseph Mitchell Trust. ANECS, SEARCH, QIMR and the HCS thank the many individuals who participated in the research studies, Penny Webb, Kaltin Fer-guson, and the ANECS research team, Nick Martin, Grant Montgomery, Dale Nyholt and Anjali Henders for access to GWAS data from QIMR controls, Paul Pharoah for his role in implementing and supporting the SEARCH study, the Eastern Cancer Registration and Information Centre and the SEARCH research team, the numerous institutions and their staff who supported recruitment, and acknowledge the contribution of our clinical and scientific collaborators and their staff. See http://www.anecs.org.au/ for full listing of the ANECS Group and other contributors to ANECS. SEARCH collaborators include Caroline Baynes, Don Con-roy, Bridget Curzon, Patricia Harrington, Sue Irvine, Clare Jordan, Craig Luccarini, Rebecca Mayes, Hannah Mun-day, Barbara Perkins, Radka Platte, Anabel Simpson, Anne Stafford and Judy West. QIMR thanks Margie Wright, Lisa Bowdler, Sara Smith, Megan Campbell and Scott Gordon for control sample collection and data processing. Funding Information: The EDGE Study (Estrogen, Diet, Genetics, and Endometrial Cancer) is supported by NCI, NIH Grants Number 2R01 CA082838, R01CA83918 (Olson PI) and P30-CA008748 (Cancer Center Support Grant). Funding Information: The Shanghai Endometrial Cancer Genetic Study (SECGS) was supported by the US PHS grants R01 CA98285, R01 CA064277, and R01 CA90899, NCI, NIH Grant Number 2R01 CA082838 as well as institutional funds from the Vanderbilt University. The SECGS would like to thank research staff and participants of the Shanghai Endometrial Cancer Study and Shanghai Breast Cancer Study for their contributions in the study. Funding Information: The Women{\textquoteright}s Insights and Shared Experiences (WISE) is supported by the NCI, NIH Grants Number P01-CA77596 and 2R01 CA082838. Funding Information: The Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial (PLCO) is supported by the Extramural and the Intramural Research Programs of the NCI. Funding Information: The Australian National Endometrial Cancer Study (ANECS) recruitment was supported by project grants from the National Health and Medical Research Council of Australia (ID#339435), The Cancer Council Queensland (ID#4196615) and Cancer Council Tasmania (ID#403031 and ID#457636). The Studies of Epidemi‑ ology and Risk factors in Cancer Heredity (SEARCH) Funding Information: The Cancer Prevention Study II (CPS‑II) cohort is supported by the American Cancer Society (ACS) and by NCI, NIH Grant Number 2R01 CA082838. The CPS-II would like to thank the CPS-II participants and Study Management Group for their invaluable contributions to this research. The authors would also like to acknowledge the contribution to this study from central cancer registries supported through the Centers for Disease Control and Prevention National Program of Cancer Registries, and cancer registries supported by the National Cancer Institute Surveillance Epidemiology and End Results program. Funding Information: The Nurses{\textquoteright} Health Study (NHS) is supported by the NCI, NIH Grants Number 1R01 CA134958, 2R01 CA082838, P01 CA087969, and R01 CA49449. The authors would like to thank the participants and staff of the Nurses{\textquoteright} Health Study for their valuable contributions as well as the following state cancer registries for their help: AL, AZ, AR, CA, CO, CT, DE, FL, GA, ID, IL, IN, IA, KY, LA, ME, MD, MA, MI, NE, NH, NJ, NY, NC, ND, OH, OK, OR, PA, RI, SC, TN, TX, VA, WA, WY. In addition, this study was approved by the Connecticut Department of Public Health (DPH) Human Investigations Committee. Certain data used in this publication were obtained from the DPH. The authors assume full responsibility for analyses and interpretation of these data. The authors would also like to thank Channing Division of Network Medicine, Department of Medicine, Brigham and Women{\textquoteright}s Hospital and Harvard Medical School. Finally, the authors would also like to acknowledge Pati Soule and Hardeep Ranu for their laboratory assistance. Funding Information: The Turin endometrial cancer case control study was supported by the Italian Association for Research on Cancer (AIRC) and Ricerca Finalizzata Regione Piemonte. Funding Information: The Connecticut Endometrial Cancer Study is supported by NCI, NIH Grant Number 2R01 CA082838.",

year = "2014",

month = feb,

doi = "10.1007/s00439-013-1369-1",

language = "English (US)",

volume = "133",

pages = "211--224",

journal = "Human Genetics",

issn = "0340-6717",

publisher = "Springer Verlag",

number = "2",

}

TY - JOUR

T1 - Genome-wide association study of endometrial cancer in E2C2

AU - De Vivo, Immaculata

AU - Prescott, Jennifer

AU - Setiawan, Veronica Wendy

AU - Olson, Sara H.

AU - Wentzensen, Nicolas

AU - Attia, John

AU - Black, Amanda

AU - Brinton, Louise

AU - Chen, Chu

AU - Chen, Constance

AU - Cook, Linda S.

AU - Crous-Bou, Marta

AU - Doherty, Jennifer

AU - Dunning, Alison M.

AU - Easton, Douglas F.

AU - Friedenreich, Christine M.

AU - Garcia-Closas, Montserrat

AU - Gaudet, Mia M.

AU - Haiman, Christopher

AU - Hankinson, Susan E.

AU - Hartge, Patricia

AU - Henderson, Brian E.

AU - Holliday, Elizabeth

AU - Horn-Ross, Pamela L.

AU - Hunter, David J.

AU - Le Marchand, Loic

AU - Liang, Xiaolin

AU - Lissowska, Jolanta

AU - Long, Jirong

AU - Lu, Lingeng

AU - Magliocco, Anthony M.

AU - McEvoy, Mark

AU - O'Mara, Tracy A.

AU - Orlow, Irene

AU - Painter, Jodie N.

AU - Pooler, Loreall

AU - Rastogi, Radhai

AU - Rebbeck, Timothy R.

AU - Risch, Harvey

AU - Sacerdote, Carlotta

AU - Schumacher, Fredrick

AU - Scott, Rodney J.

AU - Sheng, Xin

AU - Shu, Xiao Ou

AU - Spurdle, Amanda B.

AU - Thompson, Deborah

AU - Vanden Berg, David

AU - Weiss, Noel S.

AU - Xia, Lucy

AU - Xiang, Yong Bing

AU - Yang, Hannah P.

AU - Yu, Herbert

AU - Zheng, Wei

AU - Chanock, Stephen

AU - Kraft, Peter

N1 - Funding Information: The California Teachers Study (CTS) is supported by NCI, NIH Grant Number 2R01 CA082838, R01 CA91019 and R01 CA77398, and contract 97-10500 from the California Breast Cancer Research Fund. Funding Information: The Multiethnic Cohort Study (MEC) is supported by the NCI, NHI Grants Number CA54281, CA128008 and 2R01 CA082838. Funding Information: The Fred Hutchinson Cancer Research Center (FHCRC) is supported by NCI, NIH Grant Number 2R01 CA082838, NIH RO1 CA105212, RO1 CA 87538, RO1 CA75977, RO3 CA80636, NO1 HD23166, R35 CA39779, KO5 CA92002 and funds from the Fred Hutchinson Cancer Research Center. Funding Information: Cancer Institute of Canada with funds from the Canadian Cancer Society and the Canadian Institute for Health Research. The AHS is also supported by NCI, NIH Grant Number 2R01 CA082838. Dr Christine Friedenreich is supported by career awards from Alberta Innovates-Health Solutions and the Alberta Cancer Foundation through the Weekend to End Women’s Cancers Breast Cancer Chair. Dr Linda Cook was supported through the Canada Research Chairs program. Funding Information: The Alberta Health Services Study (AHS) was supported by operating grants obtained from the National Funding Information: recruitment was funded by a program grant from Cancer Research UK [C490/A10124]. Case genotyping was supported by the National Health and Medical Research Council (ID#552402). Control data was generated by the Wellcome Trust Case Control Consortium (WTCCC), and a full list of the investigators who contributed to the generation of the data is available from the WTCCC website. We acknowledge use of DNA from the British 1958 Birth Cohort collection, funded by the Medical Research Council grant G0000934 and the Wellcome Trust grant 068545/Z/02. Funding for this project was provided by the Wellcome Trust under award 085475. Recruitment of the QIMR controls was supported by the National Health and Medical Research Council of Australia (NHMRC). The University of Newcastle, the Gladys M Brawn Senior Research Fellowship scheme, The Vincent Fairfax Family Foundation, the Hunter Medical Research Institute and the Hunter Area Pathology Service all contributed towards the costs of establishing the Hunter Community Study. A.B.S. is supported by the National Health and Medical Research Council (NHMRC) Fellowship Scheme. D.F.E. is a Principal Research Fellow of Cancer Research UK. A.M.D is supported by the Joseph Mitchell Trust. ANECS, SEARCH, QIMR and the HCS thank the many individuals who participated in the research studies, Penny Webb, Kaltin Fer-guson, and the ANECS research team, Nick Martin, Grant Montgomery, Dale Nyholt and Anjali Henders for access to GWAS data from QIMR controls, Paul Pharoah for his role in implementing and supporting the SEARCH study, the Eastern Cancer Registration and Information Centre and the SEARCH research team, the numerous institutions and their staff who supported recruitment, and acknowledge the contribution of our clinical and scientific collaborators and their staff. See http://www.anecs.org.au/ for full listing of the ANECS Group and other contributors to ANECS. SEARCH collaborators include Caroline Baynes, Don Con-roy, Bridget Curzon, Patricia Harrington, Sue Irvine, Clare Jordan, Craig Luccarini, Rebecca Mayes, Hannah Mun-day, Barbara Perkins, Radka Platte, Anabel Simpson, Anne Stafford and Judy West. QIMR thanks Margie Wright, Lisa Bowdler, Sara Smith, Megan Campbell and Scott Gordon for control sample collection and data processing. Funding Information: The EDGE Study (Estrogen, Diet, Genetics, and Endometrial Cancer) is supported by NCI, NIH Grants Number 2R01 CA082838, R01CA83918 (Olson PI) and P30-CA008748 (Cancer Center Support Grant). Funding Information: The Shanghai Endometrial Cancer Genetic Study (SECGS) was supported by the US PHS grants R01 CA98285, R01 CA064277, and R01 CA90899, NCI, NIH Grant Number 2R01 CA082838 as well as institutional funds from the Vanderbilt University. The SECGS would like to thank research staff and participants of the Shanghai Endometrial Cancer Study and Shanghai Breast Cancer Study for their contributions in the study. Funding Information: The Women’s Insights and Shared Experiences (WISE) is supported by the NCI, NIH Grants Number P01-CA77596 and 2R01 CA082838. Funding Information: The Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial (PLCO) is supported by the Extramural and the Intramural Research Programs of the NCI. Funding Information: The Australian National Endometrial Cancer Study (ANECS) recruitment was supported by project grants from the National Health and Medical Research Council of Australia (ID#339435), The Cancer Council Queensland (ID#4196615) and Cancer Council Tasmania (ID#403031 and ID#457636). The Studies of Epidemi‑ ology and Risk factors in Cancer Heredity (SEARCH) Funding Information: The Cancer Prevention Study II (CPS‑II) cohort is supported by the American Cancer Society (ACS) and by NCI, NIH Grant Number 2R01 CA082838. The CPS-II would like to thank the CPS-II participants and Study Management Group for their invaluable contributions to this research. The authors would also like to acknowledge the contribution to this study from central cancer registries supported through the Centers for Disease Control and Prevention National Program of Cancer Registries, and cancer registries supported by the National Cancer Institute Surveillance Epidemiology and End Results program. Funding Information: The Nurses’ Health Study (NHS) is supported by the NCI, NIH Grants Number 1R01 CA134958, 2R01 CA082838, P01 CA087969, and R01 CA49449. The authors would like to thank the participants and staff of the Nurses’ Health Study for their valuable contributions as well as the following state cancer registries for their help: AL, AZ, AR, CA, CO, CT, DE, FL, GA, ID, IL, IN, IA, KY, LA, ME, MD, MA, MI, NE, NH, NJ, NY, NC, ND, OH, OK, OR, PA, RI, SC, TN, TX, VA, WA, WY. In addition, this study was approved by the Connecticut Department of Public Health (DPH) Human Investigations Committee. Certain data used in this publication were obtained from the DPH. The authors assume full responsibility for analyses and interpretation of these data. The authors would also like to thank Channing Division of Network Medicine, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School. Finally, the authors would also like to acknowledge Pati Soule and Hardeep Ranu for their laboratory assistance. Funding Information: The Turin endometrial cancer case control study was supported by the Italian Association for Research on Cancer (AIRC) and Ricerca Finalizzata Regione Piemonte. Funding Information: The Connecticut Endometrial Cancer Study is supported by NCI, NIH Grant Number 2R01 CA082838.

PY - 2014/2

Y1 - 2014/2

N2 - Endometrial cancer (EC), a neoplasm of the uterine epithelial lining, is the most common gynecological malignancy in developed countries and the fourth most common cancer among US women. Women with a family history of EC have an increased risk for the disease, suggesting that inherited genetic factors play a role. We conducted a two-stage genome-wide association study of Type I EC. Stage 1 included 5,472 women (2,695 cases and 2,777 controls) of European ancestry from seven studies. We selected independent single-nucleotide polymorphisms (SNPs) that displayed the most significant associations with EC in Stage 1 for replication among 17,948 women (4,382 cases and 13,566 controls) in a multiethnic population (African America, Asian, Latina, Hawaiian and European ancestry), from nine studies. Although no novel variants reached genome-wide significance, we replicated previously identified associations with genetic markers near the HNF1B locus. Our findings suggest that larger studies with specific tumor classification are necessary to identify novel genetic polymorphisms associated with EC susceptibility.

AB - Endometrial cancer (EC), a neoplasm of the uterine epithelial lining, is the most common gynecological malignancy in developed countries and the fourth most common cancer among US women. Women with a family history of EC have an increased risk for the disease, suggesting that inherited genetic factors play a role. We conducted a two-stage genome-wide association study of Type I EC. Stage 1 included 5,472 women (2,695 cases and 2,777 controls) of European ancestry from seven studies. We selected independent single-nucleotide polymorphisms (SNPs) that displayed the most significant associations with EC in Stage 1 for replication among 17,948 women (4,382 cases and 13,566 controls) in a multiethnic population (African America, Asian, Latina, Hawaiian and European ancestry), from nine studies. Although no novel variants reached genome-wide significance, we replicated previously identified associations with genetic markers near the HNF1B locus. Our findings suggest that larger studies with specific tumor classification are necessary to identify novel genetic polymorphisms associated with EC susceptibility.

UR - http://www.scopus.com/inward/record.url?scp=84893207757&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84893207757&partnerID=8YFLogxK

U2 - 10.1007/s00439-013-1369-1

DO - 10.1007/s00439-013-1369-1

M3 - Article

C2 - 24096698

AN - SCOPUS:84893207757

SN - 0340-6717

VL - 133

SP - 211

EP - 224

JO - Human Genetics

JF - Human Genetics

IS - 2

ER -

Genome-wide association study of endometrial cancer in E2C2

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