Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

被引：318

作者：

Phelan, Catherine M. ^{[1
,2
]}

Kuchenbaecker, Karoline B. ^{[3
,4
]}

Tyrer, Jonathan P. ^{[5
]}

Kar, Siddhartha P. ^{[5
]}

Lawrenson, Kate ^{[6
]}

Winham, Stacey J. ^{[7
]}

Dennis, Joe ^{[5
]}

Pirie, Ailith ^{[5
]}

Riggan, Marjorie J. ^{[8
]}

Chornokur, Ganna ^{[1
]}

Earp, Madalene A. ^{[9
]}

Lyra, Paulo C., Jr. ^{[1
]}

Lee, Janet M. ^{[10
]}

Coetzee, Simon ^{[10
]}

Beesley, Jonathan ^{[11
]}

McGuffog, Lesley ^{[12
]}

Soucy, Penny ^{[13
,14
]}

Dicks, Ed ^{[5
]}

Lee, Andrew ^{[12
]}

Barrowdale, Daniel ^{[12
]}

Lecarpentier, Julie ^{[12
]}

Leslie, Goska ^{[12
]}

Aalfs, Cora M. ^{[15
]}

Aben, Katja K. H. ^{[16
,17
]}

Adams, Marcia ^{[18
]}

Adlard, Julian ^{[19
]}

Andrulis, Irene L. ^{[20
,21
,22
]}

Anton-Culver, Hoda ^{[23
,24
]}

Antonenkova, Natalia ^{[25
]}

Aravantinos, Gerasimos ^{[26
]}

Arnold, Norbert ^{[27
]}

Arun, Banu K. ^{[28
,29
]}

Arver, Brita ^{[30
,31
]}

Azzollini, Jacopo ^{[32
]}

Balmana, Judith ^{[33
]}

Banerjee, Susana N. ^{[34
]}

Barjhoux, Laure ^{[35
]}

Barkardottir, Rosa B. ^{[36
,37
]}

Bean, Yukie ^{[38
]}

Beckmann, Matthias W. ^{[40
]}

Beeghly-Fadiel, Alicia ^{[41
,42
,43
,44
]}

Benitez, Javier ^{[45
,46
]}

Bermisheva, Marina ^{[47
]}

Bernardini, Marcus Q. ^{[48
]}

Birrer, Michael J. ^{[49
]}

Bjorge, Line ^{[50
,51
]}

Black, Amanda ^{[52
]}

Blankstein, Kenneth ^{[53
]}

Blok, Marinus J. ^{[54
]}

Bodelon, Clara ^{[52
]}

机构：

[1] H Lee Moffitt Canc Ctr & Res Inst, Dept Canc Epidemiol, Tampa, FL USA

[2] H Lee Moffitt Canc Ctr & Res Inst, Dept Gynecol Oncol, Tampa, FL USA

[3] Wellcome Trust Sanger Inst, Wellcome Genome Campus, Hinxton, England

[4] Univ Cambridge, Dept Publ Hlth & Primary Care, Strangeways Res Lab, Ctr Canc Genet Epidemiol, Cambridge, England

[5] Univ Cambridge, Dept Oncol, Strangeways Res Lab, Ctr Canc Genet Epidemiol, Cambridge, England

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

[7] Mayo Clin, Div Biomed Stat & Informat, Dept Hlth Sci Res, Rochester, MN USA

[8] Duke Univ, Med Ctr, Dept Obstet & Gynecol, Durham, NC 27710 USA

[9] Mayo Clin, Div Epidemiol, Dept Hlth Sci Res, Rochester, MN USA

[10] Cedars Sinai Med Ctr, Samuel Oschin Comprehens Canc Inst, Ctr Bioinformat & Funct Genom, Los Angeles, CA 90048 USA

[11] QIMR Berghofer Med Res Inst, Dept Genet & Computat Biol, Brisbane, Qld, Australia

[12] Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England

[13] Ctr Hosp Univ Quebec, Genom Ctr, Res Ctr, Quebec City, PQ, Canada

[14] Univ Laval, Quebec City, PQ, Canada

[15] Acad Med Ctr, Dept Clin Genet, Amsterdam, Netherlands

[16] Radboud Univ Nijmegen, Radboud Inst Hlth Sci, Dept Hlth Evidence, Med Ctr, Nijmegen, Netherlands

[17] Netherlands Comprehens Canc Org, Utrecht, Netherlands

[18] Johns Hopkins Univ, Sch Med, Inst Med Genet, Ctr Inherited Dis Res, Baltimore, MD USA

[19] Chapel Allerton Hosp, Yorkshire Reg Genet Serv, Leeds, W Yorkshire, England

[20] Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON, Canada

[21] Univ Toronto, Dept Mol Genet, Toronto, ON, Canada

[22] Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON, Canada

[23] Univ Calif Irvine, Sch Med, UCI Ctr Canc Genet Res & Prevent, Genet Epidemiol Res Inst, Irvine, CA 92717 USA

[24] Univ Calif Irvine, Dept Epidemiol, Irvine, CA USA

[25] NN Alexandrov Natl Canc Ctr Belarus, Minsk, BELARUS

[26] Agii Anargiri Canc Hosp, Athens, Greece

[27] Christian Albrechts Univ Kiel, Univ Hosp Schleswig Holstein, Dept Gynaecol & Obstet, Campus Kiel, Kiel, Germany

[28] Univ Texas MD Anderson Canc Ctr, Dept Breast Med Oncol, Houston, TX 77030 USA

[29] Univ Texas MD Anderson Canc Ctr, Clin Canc Genet Program, Houston, TX 77030 USA

[30] Karolinska Univ Hosp, Dept Oncol & Pathol, Stockholm, Sweden

[31] Karolinska Inst, Stockholm, Sweden

[32] Fdn IRCCS Ist Ricovero & Cura Carattere Sci, Ist Nazl Tumori INT, Dept Prevent & Predict Med, Unit Med Genet, Milan, Italy

[33] Univ Hosp Vall dHebron, Dept Med Oncol, Barcelona, Spain

[34] Royal Marsden Hosp, Gynaecol Unit, London, England

[35] Ctr Leon Berard, Batiment Cheney D, Lyon, France

[36] Landspitali, Dept Pathol, Lab Cell Biol, Reykjavik, Iceland

[37] Univ Iceland, BMC Biomed Ctr, Fac Med, Reykjavik, Iceland

[38] Oregon Hlth & Sci Univ, Dept Gynecol Oncol, Portland, OR 97201 USA

[39] Oregon Hlth & Sci Univ, Knight Canc Inst, Portland, OR 97201 USA

[40] Friedrich Alexander Univ Erlangen Nuremberg, Comprehens Canc Ctr Erlangen Nuremberg, Univ Hosp Erlangen, Dept Gynecol & Obstet, Erlangen, Germany

[41] Vanderbilt Univ, Sch Med, Dept Med, Div Epidemiol, Nashville, TN 37212 USA

[42] Vanderbilt Univ Sch Med, Dept Med, Vanderbilt Epidemiol Ctr, Nashville, TN USA

[43] Vanderbilt Univ Sch Med, Inst Med & Publ Hlth, Nashville, TN USA

[44] Vanderbilt Univ Sch Med, Vanderbilt Ingram Canc Ctr, Nashville, TN USA

[45] Spanish Natl Canc Ctr CNIO, Human Genet Grp, Madrid, Spain

[46] Biomed Network Rare Dis CIBERER, Madrid, Spain

[47] Russian Acad Sci, Ufa Sci Ctr, Inst Biochem & Genet, Ufa, Russia

[48] Princess Margaret Hosp, Univ Hlth Network, Div Gynecol Oncol, Toronto, ON, Canada

[49] Massachusetts Gen Hosp, Dept Med, Boston, MA 02114 USA

[50] Haukeland Hosp, Dept Gynecol & Obstet, Bergen, Norway

来源：

NATURE GENETICS | 2017年 / 49卷 / 05期

基金：

美国国家卫生研究院; 加拿大健康研究院;

关键词：

CLEAR-CELL; COMMON VARIANTS; TELOMERE LENGTH; BREAST-CANCER; RISK; ASSOCIATION; ENDOMETRIOSIS; METAANALYSIS; ALGORITHM; CARCINOMA;

D O I：

10.1038/ng.3826

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

To identify common alleles associated with different histotypes of epithelial ovarian cancer (EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,509 EOC cases and 40,941 controls. We identified nine new susceptibility loci for different EOC histotypes: six for serous EOC histotypes (3q28, 4q32.3, 8q21.11, 10q24.33, 18q11.2 and 22q12.1), two for mucinous EOC (3q22.3 and 9q31.1) and one for endometrioid EOC (5q12.3). We then performed meta-analysis on the results for high-grade serous ovarian cancer with the results from analysis of 31,448 BRCA1 and BRCA2 mutation carriers, including 3,887 mutation carriers with EOC. This identified three additional susceptibility loci at 2q13, 8q24.1 and 12q24.31. Integrated analyses of genes and regulatory biofeatures at each locus predicted candidate susceptibility genes, including OBFC1, a new candidate susceptibility gene for low-grade and borderline serous EOC.

引用

页码：680 / 691

页数：12

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