Common variants at 19p13 are associated with susceptibility to ovarian cancer

被引：205

作者：

Bolton, Kelly L. ^{[1
,2
]}

Tyrer, Jonathan ^{[1
]}

Song, Honglin ^{[1
]}

Ramus, Susan J. ^{[3
]}

Notaridou, Maria ^{[3
]}

Jones, Chris ^{[3
]}

Sher, Tanya ^{[3
]}

Gentry-Maharaj, Aleksandra ^{[3
]}

Wozniak, Eva

Tsai, Ya-Yu ^{[4
]}

Weidhaas, Joanne ^{[5
]}

Paik, Daniel ^{[6
]}

Van den Berg, David J. ^{[7
]}

Stram, Daniel O. ^{[7
]}

Pearce, Celeste Leigh ^{[7
]}

Wu, Anna H. ^{[7
]}

Brewster, Wendy ^{[8
]}

Anton-Culver, Hoda ^{[8
]}

Ziogas, Argyrios ^{[8
]}

Narod, Steven A. ^{[9
]}

Levine, Douglas A. ^{[10
]}

Kaye, Stanley B. ^{[11
]}

Brown, Robert ^{[12
]}

Paul, Jim ^{[13
]}

Flanagan, James ^{[12
]}

Sieh, Weiva ^{[14
]}

McGuire, Valerie ^{[14
]}

Whittemore, Alice S. ^{[14
]}

Campbell, Ian ^{[16
]}

Gore, Martin E. ^{[16
]}

Lissowska, Jolanta ^{[17
,18
]}

Yang, Hanna P. ^{[2
]}

Medrek, Krzysztof ^{[19
]}

Gronwald, Jacek ^{[19
]}

Lubinski, Jan ^{[19
]}

Jakubowska, Anna ^{[19
]}

Le, Nhu D. ^{[20
]}

Cook, Linda S. ^{[21
,22
]}

Kelemen, Linda E. ^{[22
]}

Brook-Wilson, Angela ^{[23
,24
]}

Massuger, Leon F. A. G. ^{[25
]}

Kiemeney, Lambertus A. ^{[2
]}

Aben, Katja K. H. ^{[26
]}

van Altena, Anne M. ^{[25
]}

Houlston, Richard ^{[27
]}

Tomlinson, Ian ^{[28
]}

Palmieri, Rachel T. ^{[29
]}

Moorman, Patricia G. ^{[29
]}

Schildkraut, Joellen ^{[29
]}

Iversen, Edwin S. ^{[30
]}

机构：

[1] Univ Cambridge, Dept Oncol, Cambridge, England

[2] Natl Canc Inst, Natl Inst Hlth, Div Canc Epidemiol & Genet, Rockville, MD USA

[3] UCL, Inst Womens Hlth, Dept Gynecol Oncol, EGA, London, England

[4] H Lee Moffitt Canc Ctr & Res Inst, Tampa, FL USA

[5] Yale Univ, Dept Therapeut Radiol, New Haven, CT 06510 USA

[6] Yale Univ, Dept Obstet & Gynecol, New Haven, CT USA

[7] Univ So Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA

[8] Univ Calif Irvine, Sch Med, Dept Epidemiol, Irvine, CA 92717 USA

[9] Ctr Res Womens Hlth, Toronto, ON, Canada

[10] Mem Sloan Kettering Canc Ctr, Dept Surg, Gynecol Serv, New York, NY 10021 USA

[11] Inst Canc Res, Med Sect, Sutton, Surrey, England

[12] Univ London Imperial Coll Sci Technol & Med, Dept Surg & Canc, London, England

[13] Univ Glasgow, Canc Res UK Clin Trials Unit, Glasgow, Lanark, Scotland

[14] Stanford Univ, Sch Med, Dept Hlth Res & Policy, Stanford, CA 94305 USA

[15] Peter MacCallum Canc Inst, Melbourne, Australia

[16] Royal Marsden Hosp, Gynecol Oncol Unit, London SW3 6JJ, England

[17] Inst Oncol, Warsaw, Poland

[18] M Sklodowska Curie Canc Ctr, Dept Canc Epidemiol & Prevent, Warsaw, Poland

[19] Pomeranian Med Univ, Dept Genet & Pathol, Int Hereditary Canc Ctr, Szczecin, Poland

[20] British Columbia Canc Agcy, Canc Control Res, Vancouver, BC V5Z 4E6, Canada

[21] Univ New Mexico, Div Epidemiol & Biostatist, Albuquerque, NM 87131 USA

[22] Alberta Hlth Serv Canc Care, Calgary, AB, Canada

[23] British Columbia Canc Agcy, Genome Sci Ctr, Vancouver, BC V5Z 4E6, Canada

[24] Simon Fraser Univ, Dept Biomed Physiol & Kinesiol, Burnaby, BC V5A 1S6, Canada

[25] Radboud Univ Nijmegen, Nijmegen Med Ctr, Dept Gynaecol, Nijmegen, Netherlands

[26] Comprehens Canc Ctr E, Nijmegen, Netherlands

[27] Inst Canc Res, Sect Canc Genet, Sutton, Surrey, England

[28] Wellcome Trust Ctr Human Genet, Populat & Funct Genet Lab, Oxford, England

[29] Duke Univ, Med Ctr, Dept Community & Family Med, Durham, NC USA

[30] Duke Univ, Dept Stat, Durham, NC USA

[31] Mayo Clin Coll Med, Dept Hlth Sci Res, Rochester, MN USA

[32] Mayo Clin Coll Med, Dept Lab Med & Pathol, Rochester, MN USA

[33] Danish Canc Soc, Dept Virus, Copenhagen, Denmark

[34] Danish Canc Soc, Canc Inst Canc Epidemiol, Canc Inst Canc Epidemiol, Copenhagen, Denmark

[35] Aarhus Univ Hosp, DK-8000 Aarhus, Denmark

[36] Juliane Marie Ctr, Gynaecol Clin, Copenhagen, Denmark

[37] Cedars Sinai Med Ctr, Womens Canc Res Inst, Samuel Oschin Comprehens Canc Ctr, Los Angeles, CA 90048 USA

[38] Univ Texas Houston, Sch Publ Hlth, Houston, TX USA

[39] Magee Womens Hosp, Pittsburgh, PA USA

[40] Roswell Pk Canc Inst, Dept Gynecol Oncol, Buffalo, NY 14263 USA

[41] Roswell Pk Canc Inst, Dept Canc Genet, Buffalo, NY 14263 USA

[42] Brown Univ, Dept Obstet & Gynecol, Providence, RI 02912 USA

[43] Univ Pittsburgh, Dept Epidemiol, Pittsburgh, PA 15261 USA

[44] Univ Helsinki, Cent Hosp, Dept Obstet & Gynaecol, Helsinki, Finland

[45] Byelorussian Inst Oncol & Med Radiol Aleksandro, Minsk, BELARUS

[46] Hannover Med Sch, Clin Obstet & Gynaecol, D-3000 Hannover, Germany

[47] Friedrich Schiller Univ, Clin Obstet & Gynaecol, Jena, Germany

[48] Univ Hawaii, Canc Res Ctr Hawaii, Honolulu, HI 96813 USA

[49] Univ Ulm, Dept Obstet & Gynecol, Ulm, Germany

[50] Deutsch Krebsforschungszentrum, Div Canc Epidemiol, Unit Genet Epidemiol, D-6900 Heidelberg, Germany

来源：

NATURE GENETICS | 2010年 / 42卷 / 10期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

GENOME-WIDE ASSOCIATION; BRCA1; COMPLEX;

D O I：

10.1038/ng.666

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Epithelial ovarian cancer (EOC) is the leading cause of death from gynecological malignancy in the developed world, accounting for 4% of the deaths from cancer in women(1). We performed a three-phase genome-wide association study of EOC survival in 8,951 individuals with EOC (cases) with available survival time data and a parallel association analysis of EOC susceptibility. Two SNPs at 19p13.11, rs8170 and rs2363956, showed evidence of association with survival (overall P = 5 x 10(-4) and P = 6 x 10(-4), respectively), but they did not replicate in phase 3. However, the same two SNPs demonstrated genome-wide significance for risk of serous EOC (P = 3 x 10(-9) and P = 4 x 10(-11), respectively). Expression analysis of candidate genes at this locus in ovarian tumors supported a role for the BRCA1-interacting gene C19orf62, also known as MERIT40, which contains rs8170, in EOC development.

引用

页码：880 / +

页数：7

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