Joint associations of a polygenic risk score and environmental risk factors for breast cancer in the Breast Cancer Association Consortium

被引：70

作者：

Rudolph, Anja ^{[1
,2
]}

Song, Minsun ^{[3
]}

Brook, Mark N. ^{[4
]}

Milne, Roger L. ^{[5
,6
]}

Mavaddat, Nasim ^{[7
]}

Michailidou, Kyriaki ^{[7
,8
]}

Bolla, Manjeet K. ^{[7
]}

Wang, Qin ^{[7
]}

Dennis, Joe ^{[7
]}

Wilcox, Amber N. ^{[9
]}

Hopper, John L. ^{[6
]}

Southey, Melissa C. ^{[10
]}

Keeman, Renske ^{[11
]}

Fasching, Peter A. ^{[12
,13
]}

Beckmann, Matthias W. ^{[12
]}

Gago-Dominguez, Manuela ^{[14
,15
]}

Castelao, Jose E. ^{[16
]}

Guenel, Pascal ^{[17
]}

Truong, Therese ^{[17
]}

Bojesen, Stig E. ^{[18
,19
,20
]}

Flyger, Henrik ^{[21
]}

Brenner, Hermann ^{[22
,23
,24
]}

Arndt, Volker ^{[22
]}

Brauch, Hiltrud ^{[24
,25
,26
]}

Bruening, Thomas ^{[27
]}

Mannermaa, Arto ^{[28
,29
,30
]}

Kosma, Veli-Matti ^{[31
,32
]}

Lambrechts, Diether ^{[33
]}

Keupers, Machteld ^{[34
]}

Couch, Fergus J. ^{[35
]}

Vachon, Celine ^{[5
,6
]}

Giles, Graham G. ^{[5
,6
]}

MacInnis, Robert J. ^{[5
,6
]}

Figueroa, Jonine ^{[9
,36
]}

Brinton, Louise ^{[9
]}

Czene, Kamila ^{[37
]}

Brand, Judith S. ^{[37
]}

Gabrielson, Marike ^{[37
]}

Humphreys, Keith ^{[37
]}

Cox, Angela ^{[38
]}

Cross, Simon S. ^{[39
]}

Dunning, Alison M. ^{[40
]}

Orr, Nick ^{[41
]}

Swerdlow, Anthony ^{[41
]}

Hall, Per ^{[37
]}

Pharoah, Paul D. P. ^{[40
]}

Schmidt, Marjanka K. ^{[11
,42
]}

Easton, Douglas F. ^{[40
]}

Chatterjee, Nilanjan ^{[9
,43
,44
]}

Chang-Claude, Jenny ^{[1
,45
]}

机构：

[1] German Canc Res Ctr, Div Canc Epidemiol, Heidelberg, Germany

[2] QuintilesIMS, Real World Insights, CESE, Frankfurt, Germany

[3] Sookmyung Womens Univ, Dept Stat, Seoul, South Korea

[4] Inst Canc Res, Div Genet & Epidemiol, London, England

[5] Canc Council Victoria, Canc Epidemiol & Intelligence Div, Melbourne, Vic, Australia

[6] Univ Melbourne, Ctr Epidemiol & Biostat, Melbourne, Vic, Australia

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

[8] Cyprus Inst Neurol & Genet, Dept Elect Microscopy Mol Pathol, Nicosia, Cyprus

[9] NCI, Div Canc Epidemiol & Genet, 9609 Med Ctr Dr,MSC 9776, Bethesda, MD 20892 USA

[10] Univ Melbourne, Dept Pathol, Melbourne, Vic, Australia

[11] Netherlands Canc Inst, Antoni van Leeuwenhoek Hosp, Div Mol Pathol, Amsterdam, Netherlands

[12] Friedrich Alexander Univ Erlangen Nuremberg, Comprehens Canc Ctr Erlangen EMN, Univ Hosp Erlangen, Dept Gynaecol & Obstet, Erlangen, Germany

[13] Univ Calif Los Angeles, David Geffen Sch Med, Div Hematol & Oncol, Los Angeles, CA 90095 USA

[14] Complejo Hosp Univ Santiago, Inst Invest Sanitaria Santiago, Genom Med Grp, IDIS,Galician Fdn Genom Med, Santiago De Compostela, Spain

[15] Univ Calif San Diego, Moores Canc Ctr, La Jolla, CA 92093 USA

[16] Complejo Hosp Univ Vigo, Inst Investigac Sanitaria Galicia, Oncol & Genet Unit, Vigo, Spain

[17] Univ Paris Sud, Univ Paris Saclay, Ctr Res Epidemiol & Populat Hlth, Villejuif, France

[18] Copenhagen Gen Populat Study, Copenhagen, Denmark

[19] Copenhagen Univ Hosp, Herlev & Gentofte Hosp, Dept Clin Biochem, Herlev, Denmark

[20] Univ Copenhagen, Fac Hlth & Med Sci, Copenhagen, Denmark

[21] Copenhagen Univ Hosp, Herlev & Gentofte Hosp, Dept Breast Surg, Herlev, Denmark

[22] German Canc Res Ctr, Div Clin Epidemiol & Aging Res, Heidelberg, Germany

[23] German Canc Res Ctr, Div Prevent Oncol, Natl Ctr Tumor Dis NCT, Heidelberg, Germany

[24] German Canc Res Ctr, German Canc Consortium, Heidelberg, Germany

[25] Dr Margarete Fischer Bosch Inst Clin Pharmacol, Stuttgart, Germany

[26] Univ Tubingen, Dept Clin Pharmacol, Tubingen, Germany

[27] Inst Ruhr Univ Bochum, German Social Accid Insurance, Inst Prevent & Occupat Med, Bochum, Germany

[28] Univ Eastern Finland, Translat Canc Res Area, Kuopio, Finland

[29] Univ Eastern Finland, Inst Clin Med Pathol & Forens Med, Kuopio, Finland

[30] Kuopio Univ Hosp, Dept Clin Pathol, Kuopio, Finland

[31] VIB Ctr Canc Biol, Leuven, Belgium

[32] Univ Leuven, Lab Translat Genet, Leuven, Belgium

[33] Univ Hosp Leuven, Dept Radiat Oncol, Leuven, Belgium

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

[35] Mayo Clin, Dept Hlth Sci Res, Rochester, MN USA

[36] Univ Edinburgh, Usher Inst Populat Hlth Sci & Informat, Edinburgh, Midlothian, Scotland

[37] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden

[38] Univ Sheffield, Dept Oncol & Metab, Sheffield, S Yorkshire, England

[39] Univ Sheffield, Dept Neurosci, Sheffield, S Yorkshire, England

[40] Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England

[41] Inst Canc Res, Div Breast Canc Res, London, England

[42] Netherlands Canc Inst, Antoni van Leeuwenhoek Hosp, Div Psychosocial Res & Epidemiol, Amsterdam, Netherlands

[43] Johns Hopkins Univ, Bloomberg Sch Publ Hlth, Baltimore, MD USA

[44] Johns Hopkins Univ, Dept Oncol, Baltimore, MD USA

[45] Univ Med Ctr Hamburg Eppendorf, Univ Canc Ctr Hamburg, Hamburg, Germany

来源：

INTERNATIONAL JOURNAL OF EPIDEMIOLOGY | 2018年 / 47卷 / 02期

关键词：

Breast cancer; genetic susceptibility; gene-environment interactions; risk prediction; epidemiology; SUSCEPTIBILITY LOCI; TUMOR SUBTYPES; PREDICTION; MODELS;

D O I：

10.1093/ije/dyx242

中图分类号：

R1 [预防医学、卫生学];

学科分类号：

1004 ; 120402 ;

摘要：

Background: Polygenic risk scores (PRS) for breast cancer can be used to stratify the population into groups at substantially different levels of risk. Combining PRS and environmental risk factors will improve risk prediction; however, integrating PRS into risk prediction models requires evaluation of their joint association with known environmental risk factors. Methods: Analyses were based on data from 20 studies; datasets analysed ranged from 3453 to 23 104 invasive breast cancer cases and similar numbers of controls, depending on the analysed environmental risk factor. We evaluated joint associations of a 77-single nucleotide polymorphism (SNP) PRS with reproductive history, alcohol consumption, menopausal hormone therapy (MHT), height and body mass index (BMI). We tested the null hypothesis of multiplicative joint associations for PRS and each of the environmental factors, and performed global and tail-based goodness-of-fit tests in logistic regression models. The outcomes were breast cancer overall and by estrogen receptor (ER) status. Results: The strongest evidence for a non-multiplicative joint associations with the 77-SNP PRS was for alcohol consumption (P-interaction = 0.009), adult height (P-interaction = 0.025) and current use of combined MHT (P-interaction = 0.038) in ER-positive disease. Risk associations for these factors by percentiles of PRS did not follow a clear dose-response. In addition, global and tail-based goodness of fit tests showed little evidence for departures from a multiplicative risk model, with alcohol consumption showing the strongest evidence for ER-positive disease (P = 0.013 for global and 0.18 for tail-based tests). Conclusions: The combined effects of the 77-SNP PRS and environmental risk factors for breast cancer are generally well described by a multiplicative model. Larger studies are required to confirm possible departures from the multiplicative model for individual risk factors, and assess models specific for ER-negative disease.

引用

页码：526 / 536

页数：11

共 50 条

[1] Combined Associations of a Polygenic Risk Score and Classical Risk Factors With Breast Cancer Risk
Kapoor, Pooja Middha
Mavaddat, Nasim
Choudhury, Parichoy Pal
Wilcox, Amber N.
Lindstrom, Sara
Behrens, Sabine
Michailidou, Kyriaki
Dennis, Joe
Bolla, Manjeet K.
Wang, Qin
Jung, Audrey
Abu-Ful, Zomoroda
Ahearn, Thomas
Andrulis, Irene L.
Anton-Culver, Hoda
Arndt, Volker
Aronson, Kristan J.
Auer, Paul L.
Freeman, Laura E. Beane
Becher, Heiko
Beckmann, Matthias W.
Beeghly-Fadiel, Alicia
Benitez, Javier
Bernstein, Leslie
Bojesen, Stig E.
Brauch, Hiltrud
Brenner, Hermann
Bruening, Thomas
Cai, Qiuyin
Campa, Daniele
Canzian, Federico
Carracedo, Angel
Carter, Brian D.
Castelao, Jose E.
Chanock, Stephen J.
Chatterjee, Nilanjan
Chenevix-Trench, Georgia
Clarke, Christine L.
Couch, Fergus J.
Cox, Angela
Cross, Simon S.
Czene, Kamila
Dai, James Y.
Earp, H. Shelton
Ekici, Arif B.
Eliassen, A. Heather
Eriksson, Mikael
Evans, D. Gareth
Fasching, Peter A.
Figueroa, Jonine
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2021, 113 (03): : 329 - 337
[2] The associations between a polygenic score, reproductive and menstrual risk factors and breast cancer risk
Shaneda Warren Andersen
Amy Trentham-Dietz
Ronald E. Gangnon
John M. Hampton
Jonine D. Figueroa
Halcyon G. Skinner
Corinne D. Engelman
Barbara E. Klein
Linda J. Titus
Polly A. Newcomb
Breast Cancer Research and Treatment, 2013, 140 : 427 - 434
[3] The associations between a polygenic score, reproductive and menstrual risk factors and breast cancer risk
Andersen, Shaneda Warren
Trentham-Dietz, Amy
Gangnon, Ronald E.
Hampton, John M.
Figueroa, Jonine D.
Skinner, Halcyon G.
Engelman, Corinne D.
Klein, Barbara E.
Titus, Linda J.
Newcomb, Polly A.
BREAST CANCER RESEARCH AND TREATMENT, 2013, 140 (02) : 427 - 434
[4] Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk
Kramer, Iris
Hooning, Maartje J.
Mavaddat, Nasim
Hauptmann, Michael
Keeman, Renske
Steyerberg, Ewout W.
Giardiello, Daniele
Antoniou, Antonis C.
Pharoah, Paul D. P.
Canisius, Sander
Abu-Ful, Zumuruda
Andrulis, Irene L.
Anton-Culver, Hoda
Aronson, Kristan J.
Augustinsson, Annelie
Becher, Heiko
Beckmann, Matthias W.
Behrens, Sabine
Benitez, Javier
Bermisheva, Marina
Bogdanova, Natalia, V
Bojesen, Stig E.
Bolla, Manjeet K.
Bonanni, Bernardo
Brauch, Hiltrud
Bremer, Michael
Brucker, Sara Y.
Burwinkel, Barbara
Castelao, Jose E.
Chan, Tsun L.
Chang-Claude, Jenny
Chanock, Stephen J.
Chenevix-Trench, Georgia
Choi, Ji-Yeob
Clarke, Christine L.
Collee, J. Margriet
Couch, Fergus J.
Cox, Angela
Cross, Simon S.
Czene, Kamila
Daly, Mary B.
Devilee, Peter
Dork, Thilo
dos-Santos-Silva, Isabel
Dunning, Alison M.
Dwek, Miriam
Eccles, Diana M.
Evans, D. Gareth
Fasching, Peter A.
Flyger, Henrik
AMERICAN JOURNAL OF HUMAN GENETICS, 2020, 107 (05) : 837 - 848
[5] Combined association of a polygenic risk score with 313 genetic variants and established environmental risk factors in relation to breast cancer risk
Middha, Pooja
Mavaddat, Nasim
Milne, Roger L.
Simard, Jacques
Schmidt, Marjanka K.
Kraft, Peter
Pharoah, Paul D. P.
Easton, Douglas F.
Garcia-Closas, Montserrat
Chang-Claude, Jenny
GENETIC EPIDEMIOLOGY, 2018, 42 (07) : 716 - 716
[6] Associations of a Breast Cancer Polygenic Risk Score With Tumor Characteristics and Survival
Cardozo, Josephine M. N. L.
Andrulis, Irene L. E.
Bojesen, Stig E.
Doerk, Thilo M.
Eccles, Diana M. A.
Fasching, Peter A. J.
Hooning, Maartje J.
Keeman, Renske
Nevanlinna, Heli
Rutgers, Emiel J. T. F.
Easton, Douglas F.
Hall, Per
Pharoah, Paul D. P. J.
van't Veer, Laura J. K.
Schmidt, Marjanka K.
JOURNAL OF CLINICAL ONCOLOGY, 2023, 41 (10) : 1849 - +
[7] The polygenic risk score in the breast cancer treatment
Anaclerio, Federico
Pilenzi, Lucrezia
Minelli, Maria
Giansante, Roberta
Cicirelli, Michela
Scorrano, Vincenzo
Antonucci, Ivana
Stuppia, Liborio
JOURNAL OF TRANSLATIONAL GENETICS AND GENOMICS, 2024, 8 (04) : 328 - 339
[8] Associations of Breast Cancer Risk Factors With Tumor Subtypes: A Pooled Analysis From the Breast Cancer Association Consortium Studies
Yang, Xiaohong R.
Chang-Claude, Jenny
Goode, Ellen L.
Couch, Fergus J.
Nevanlinna, Heli
Milne, Roger L.
Gaudet, Mia
Schmidt, Marjanka K.
Broeks, Annegien
Cox, Angela
Fasching, Peter A.
Hein, Rebecca
Spurdle, Amanda B.
Blows, Fiona
Driver, Kristy
Flesch-Janys, Dieter
Heinz, Judith
Sinn, Peter
Vrieling, Alina
Heikkinen, Tuomas
Aittomaeki, Kristiina
Heikkilae, Paeivi
Blomqvist, Carl
Lissowska, Jolanta
Peplonska, Beata
Chanock, Stephen
Figueroa, Jonine
Brinton, Louise
Hall, Per
Czene, Kamila
Humphreys, Keith
Darabi, Hatef
Liu, Jianjun
Van 't Veer, Laura J.
Van Leeuwen, Flora E.
Andrulis, Irene L.
Glendon, Gord
Knight, Julia A.
Mulligan, Anna Marie
O'Malley, Frances P.
Weerasooriya, Nayana
John, Esther M.
Beckmann, Matthias W.
Hartmann, Arndt
Weihbrecht, Sebastian B.
Wachter, David L.
Jud, Sebastian M. S.
Loehberg, Christian R.
Baglietto, Laura
English, Dallas R.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2011, 103 (03): : 250 - 263
[9] Polygenic risk score calibration and association with breast cancer in diverse ancestries
Kucera, Matthew
Hughes, Elisha
Mabey, Brent
Hullinger, Brooke
Pederson, Holly Jane
Pal, Tuya
Domchek, Susan M.
Eng, Charis
Garber, Judy Ellen
Gordon, Ora
Klemp, Jennifer R.
Mukherjee, Semanti
Vijai, Joseph
Pruthi, Sandhya
Kurian, Allison W.
Whitworth, Pat W.
Lanchbury, Jerry
Slavin, Thomas Paul
Gutin, Alexander
Olopade, Olufunmilayo I.
JOURNAL OF CLINICAL ONCOLOGY, 2023, 41 (16)
[10] A polygenic risk score predicts breast cancer risk in Latinas
Shieh, Yiwey
Fejerman, Laura
Sawyer, Sarah D.
Hu, Donglei
Huntsman, Scott
John, Esther M.
Kushi, Lawrence H.
Torres-Mejia, Gabriela
Weitzel, Jeffrey N.
Haiman, Christopher A.
Ziv, Elad
Neuhausen, Susan L.
CANCER RESEARCH, 2019, 79 (13)

← 1 2 3 4 5 →