Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk

被引：39

作者：

Kramer, Iris ^{[1
]}

Hooning, Maartje J. ^{[2
]}

Mavaddat, Nasim ^{[3
]}

Hauptmann, Michael ^{[4
,5
]}

Keeman, Renske ^{[1
]}

Steyerberg, Ewout W. ^{[6
,7
]}

Giardiello, Daniele ^{[1
,6
]}

Antoniou, Antonis C. ^{[3
]}

Pharoah, Paul D. P. ^{[3
,8
]}

Canisius, Sander ^{[1
,9
]}

Abu-Ful, Zumuruda ^{[10
,11
]}

Andrulis, Irene L. ^{[12
,13
]}

Anton-Culver, Hoda ^{[14
]}

Aronson, Kristan J. ^{[15
]}

Augustinsson, Annelie ^{[16
]}

Becher, Heiko ^{[17
,18
]}

Beckmann, Matthias W. ^{[19
]}

Behrens, Sabine ^{[20
]}

Benitez, Javier ^{[21
,22
]}

Bermisheva, Marina ^{[23
]}

Bogdanova, Natalia, V ^{[24
,25
,26
]}

Bojesen, Stig E. ^{[27
,28
,29
]}

Bolla, Manjeet K. ^{[3
]}

Bonanni, Bernardo ^{[30
]}

Brauch, Hiltrud ^{[31
,32
,33
]}

Bremer, Michael ^{[24
]}

Brucker, Sara Y. ^{[34
]}

Burwinkel, Barbara ^{[35
,36
]}

Castelao, Jose E. ^{[37
]}

Chan, Tsun L. ^{[38
,39
]}

Chang-Claude, Jenny ^{[20
,40
]}

Chanock, Stephen J. ^{[41
]}

Chenevix-Trench, Georgia ^{[42
]}

Choi, Ji-Yeob ^{[43
,44
]}

Clarke, Christine L. ^{[45
]}

Collee, J. Margriet ^{[49
]}

Couch, Fergus J. ^{[50
]}

Cox, Angela ^{[51
]}

Cross, Simon S. ^{[52
]}

Czene, Kamila ^{[53
]}

Daly, Mary B. ^{[54
]}

Devilee, Peter ^{[55
,56
]}

Dork, Thilo ^{[25
]}

dos-Santos-Silva, Isabel ^{[57
]}

Dunning, Alison M. ^{[8
]}

Dwek, Miriam ^{[58
]}

Eccles, Diana M. ^{[59
]}

Evans, D. Gareth ^{[60
,61
]}

Fasching, Peter A. ^{[19
,62
]}

Flyger, Henrik ^{[63
]}

机构：

[1] Antoni van Leeuwenhoek Hosp, Div Mol Pathol, Netherlands Canc Inst, NL-1066 CX Amsterdam, Netherlands

[2] Erasmus MC Canc Inst, Dept Med Oncol, NL-3015 CN Rotterdam, Netherlands

[3] Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Publ Hlth & Primary Care, Cambridge CB1 8RN, England

[4] Antoni van Leeuwenhoek Hosp, Dept Epidemiol & Biostat, Netherlands Canc Inst, NL-1066 CX Amsterdam, Netherlands

[5] Brandenburg Med Sch Theodor Fontane, Inst Biostat & Registry Res, D-16816 Neuruppin, Germany

[6] Leiden Univ, Dept Biomed Data Sci, Med Ctr, NL-2333 ZA Leiden, Netherlands

[7] Erasmus MC, Dept Publ Hlth, NL-3015 GD Rotterdam, Netherlands

[8] Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Oncol, Cambridge CB1 8RN, England

[9] Antoni van Leeuwenhoek Hosp, Div Mol Carcinogenesis, Netherlands Canc Inst, NL-1066 CX Amsterdam, Netherlands

[10] Carmel Hosp, IL-35254 Haifa, Israel

[11] Technion Fac Med, Clalit Natl Canc Con Trol Ctr, IL-35254 Haifa, Israel

[12] Mt Sinai Hosp, Fred A Litwin Ctr Canc Genet, Lunenfeld Tanenbaum Res Inst, Toronto, ON M5G 1X5, Canada

[13] Univ Toronto, Dept Mol Genet, Toronto, ON M5S 1A8, Canada

[14] Univ Calif Irvine, Genet Epidemiol Res Inst, Dept Epidemiol, Irvine, CA 92617 USA

[15] Queens Univ, Canc Res Inst, Dept Publ Hlth Sci, Kingston, ON K7L 3N6, Canada

[16] Lund Univ, Dept Canc Epidemiol, Clin Sci, S-22242 Lund, Sweden

[17] Univ Med Ctr Hamburg Eppendorf, Inst Med Biometry & Epidemiol, D-20246 Hamburg, Germany

[18] Charite Univ Med Berlin, Inst Biometry & Clin Epidemiol, D-10117 Berlin, Germany

[19] Friedrich Alexander Univ Erlangen Nuremberg, Univ Hosp Erlangen, Comprehens Canc Ctr ER EMN, Dept Gynecol & Obstet, D-91054 Erlangen, Germany

[20] German Canc Res Ctr, Div Canc Epidemiol, D-69120 Heidelberg, Germany

[21] Ctr Invest Red Enfermedades Raras CIBERER, Madrid 28029, Spain

[22] Spanish Natl Canc Res Ctr CNIO, Human Canc Genet Programme, Madrid 28029, Spain

[23] Russian Acad Sci, Inst Biochem & Genet, Ufa Fed Res Ctr, Ufa 450054, Russia

[24] Hannover Med Sch, Dept Radiat Oncol, D-30625 Hannover, Germany

[25] Hannover Med Sch, Gynaecol Res Unit, D-30625 Hannover, Germany

[26] NN Alexandrov Res Inst Oncol & Med Radiol, Minsk 223040, BELARUS

[27] Copenhagen Univ Hosp, Herlev & Gentofte Hosp, Copenhagen Gen Populat Study, DK-2730 Herlev, Denmark

[28] Copenhagen Univ Hosp, Herlev & Gentofte Hosp, Dept Clin Biochem, DK-2730 Herlev, Denmark

[29] Univ Copenhagen, Fac Hlth & Med Sci, DK-2200 Copenhagen, Denmark

[30] European Inst Oncol IRCCS, Div Canc Prevent & Genet, IEO, I-20141 Milan, Italy

[31] Dr Margarete Fischer Bosch Inst Clin Pharmacol, D-70376 Stuttgart, Germany

[32] Univ Tubingen, iFIT Cluster Excellence, D-72074 Tubingen, Germany

[33] German Canc Res Ctr, German Canc Consortium DKTK, Partner Site Tubingen, D-72074 Tubingen, Germany

[34] Univ Tubingen, Dept Gynecol & Obstet, D-72076 Tubingen, Germany

[35] German Canc Res Ctr, Mol Epidemiol Grp, C080, D-69120 Heidelberg, Germany

[36] Heidelberg Univ, Univ Womens Clin Heidelberg, Mol Biol Breast Canc, D-69120 Heidelberg, Germany

[37] Inst Invest Sanitaria Galicia Sur IISGS, Oncol & Genet Unit, Xerencia Xest Integrada Vigo SERGAS, Vigo 36312, Spain

[38] Hong Kong Hereditary Breast Canc Family Registry, Hong Kong, Peoples R China

[39] Hong Kong Sanat & Hosp, Dept Pathol, Happy Valley, Hong Kong, Peoples R China

[40] Univ Med Ctr Hamburg Eppendorf, Univ Canc Ctr Hamburg UCCH, Canc Epidemiol Grp, D-20246 Hamburg, Germany

[41] NCI, NIH, US Dept HHS, Div Canc Epidemiol & Genet, Bethesda, MD 20850 USA

[42] QIMR Berghofer Med Res Inst, Dept Genet & Computat Biol, Brisbane, Qld 4006, Australia

[43] Seoul Natl Univ, Dept Biomed Sci, Grad Sch, Seoul 03080, South Korea

[44] Seoul Natl Univ, Canc Res Inst, Seoul 03080, South Korea

[45] Univ Sydney, Westmead Inst Med Res, Sydney, NSW 2145, Australia

[46] Oslo Univ Hosp, Inst Canc Res, Dept Canc Genet, Radiumhosp, N-0379 Oslo, Norway

[47] Oslo Univ Hosp, N-0379 Oslo, Norway

[48] Univ Olso, Dept Med Genet, N-0379 Oslo, Norway

[49] Erasmus MC, Dept Clin Genet, NL-3015 CN Rotterdam, Netherlands

[50] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55905 USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2020年 / 107卷 / 05期

基金：

英国惠康基金;

关键词：

ASSOCIATION ANALYSIS; PROGNOSIS; LOCI; AGE;

D O I：

10.1016/j.ajhg.2020.09.001

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Previous research has shown that polygenic risk scores (PRSs) can be used to stratify women according to their risk of developing primary invasive breast cancer. This study aimed to evaluate the association between a recently validated PRS of 313 germline variants (PRS313) and contralateral breast cancer (CBC) risk. We included 56,068 women of European ancestry diagnosed with first invasive breast cancer from 1990 onward with follow-up from the Breast Cancer Association Consortium. Metachronous CBC risk (N = 1,027) according to the distribution of PRS313 was quantified using Cox regression analyses. We assessed PRS313 interaction with age at first diagnosis, family history, morphology, ER status, PR status, and HER2 status, and (neo)adjuvant therapy. In studies of Asian women, with limited follow-up, CBC risk associated with PRS313 was assessed using logistic regression for 340 women with CBC compared with 12,133 women with unilateral breast cancer. Higher PRS313 was associated with increased CBC risk: hazard ratio per standard deviation (SD) = 1.25 (95%CI = 1.18-1.33) for Europeans, and an OR per SD = 1.15 (95%CI = 1.02-1.29) for Asians. The absolute lifetime risks of CBC, accounting for death as competing risk, were 12.4% for European women at the 10th percentile and 20.5% at the 90th percentile of PRS313. We found no evidence of confounding by or interaction with individual characteristics, characteristics of the primary tumor, or treatment. The C-index for the PRS313 alone was 0.563 (95%CI = 0.547-0.586). In conclusion, PRS313 is an independent factor associated with CBC risk and can be incorporated into CBC risk prediction models to help improve stratification and optimize surveillance and treatment strategies.

引用

页码：837 / 848

页数：12

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