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 ORCID: 0000-0002-9458-0282, dos-Santos-Silva, Isabel, Dunning, Alison M., Dwek, Miriam, Eccles, Diana M., Evans, D. Gareth, Fasching, Peter A., Flyger, Henrik, Gago-Dominguez, Manuela, Garcia-Closas, Montserrat, Garcia-Saenz, Jose A., Giles, Graham G., Goldgar, David E., Gonzalez-Neira, Anna, Haiman, Christopher A., Hakansson, Niclas, Hamann, Ute, Hartman, Mikael, Heemskerk-Gerritsen, Bernadette A. M., Hollestelle, Antoinette, Hopper, John L., Hou, Ming-Feng, Howell, Anthony ORCID: 0000-0002-6233-719X, Ito, Hidemi, Jakimovska, Milena, Jakubowska, Anna, Janni, Wolfgang, John, Esther M., Jung, Audrey, Kang, Daehee ORCID: 0000-0003-4031-5878, Kets, C. Marleen, Khusnutdinova, Elza, Ko, Yon-Dschun, Kristensen, Vessela N., Kurian, Allison W., Kwong, Ava, Lambrechts, Diether ORCID: 0000-0002-3429-302X, Le Marchand, Loic, Li, Jingmei, Lindblom, Annika, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Matsuo, Keitaro, Mavroudis, Dimitrios, Meindl, Alfons, Milne, Roger L., Mulligan, Anna Marie, Muranen, Taru A., Neuhausen, Susan L., Nevanlinna, Heli, Newman, William G., Olshan, Andrew F., Olson, Janet E., Olsson, Hakan, Park-Simon, Tjoung-Won, Peto, Julian, Petridis, Christos, Plaseska-Karanfilska, Dijana, Presneau, Nadege, Pylkas, Katri, Radice, Paolo, Rennert, Gad, Romero, Atocha, Roylance, Rebecca, Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Schwentner, Lukas, Scott, Christopher, See, Mee-Hoong, Shah, Mitul, Shen, Chen-Yang, Shu, Xiao-Ou, Siesling, Sabine, Slager, Susan, Sohn, Christof, Southey, Melissa C., Spinelli, John J., Stone, Jennifer ORCID: 0000-0001-5077-0124, Tapper, William J., Tengstrom, Maria, Teo, Soo Hwang, Terry, Mary Beth, Tollenaar, Rob A. E. M., Tomlinson, Ian, Troester, Melissa A., Vachon, Celine M., van Ongeval, Chantal, van Veen, Elke M., Winqvist, Robert, Wolk, Alicja, Zheng, Wei, Ziogas, Argyrios, Easton, Douglas F., Hall, Per and Schmidt, Marjanka K. (2020). Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk. Am. J. Hum. Genet., 107 (5). S. 837 - 849. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

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Abstract

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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Kramer, IrisUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hooning, Maartje J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mavaddat, NasimUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hauptmann, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Keeman, RenskeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Steyerberg, Ewout W.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Giardiello, DanieleUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Antoniou, Antonis C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pharoah, Paul D. P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Canisius, SanderUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Abu-Ful, ZumurudaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Andrulis, Irene L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Anton-Culver, HodaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Aronson, Kristan J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Augustinsson, AnnelieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Becher, HeikoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beckmann, Matthias W.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Behrens, SabineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Benitez, JavierUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bermisheva, MarinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bogdanova, Natalia, VUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bojesen, Stig E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bolla, Manjeet K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bonanni, BernardoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brauch, HiltrudUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bremer, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brucker, Sara Y.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Burwinkel, BarbaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Castelao, Jose E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chan, Tsun L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chang-Claude, JennyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chanock, Stephen J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chenevix-Trench, GeorgiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Choi, Ji-YeobUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Clarke, Christine L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Collee, J. MargrietUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Couch, Fergus J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cox, AngelaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cross, Simon S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Czene, KamilaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Daly, Mary B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Devilee, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dork, ThiloUNSPECIFIEDorcid.org/0000-0002-9458-0282UNSPECIFIED
dos-Santos-Silva, IsabelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dunning, Alison M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dwek, MiriamUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Eccles, Diana M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Evans, D. GarethUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fasching, Peter A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Flyger, HenrikUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gago-Dominguez, ManuelaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Garcia-Closas, MontserratUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Garcia-Saenz, Jose A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Giles, Graham G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Goldgar, David E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gonzalez-Neira, AnnaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Haiman, Christopher A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hakansson, NiclasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hamann, UteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hartman, MikaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Heemskerk-Gerritsen, Bernadette A. M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hollestelle, AntoinetteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hopper, John L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hou, Ming-FengUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Howell, AnthonyUNSPECIFIEDorcid.org/0000-0002-6233-719XUNSPECIFIED
Ito, HidemiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jakimovska, MilenaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jakubowska, AnnaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Janni, WolfgangUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
John, Esther M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jung, AudreyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kang, DaeheeUNSPECIFIEDorcid.org/0000-0003-4031-5878UNSPECIFIED
Kets, C. MarleenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Khusnutdinova, ElzaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ko, Yon-DschunUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kristensen, Vessela N.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kurian, Allison W.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kwong, AvaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lambrechts, DietherUNSPECIFIEDorcid.org/0000-0002-3429-302XUNSPECIFIED
Le Marchand, LoicUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Li, JingmeiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lindblom, AnnikaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mannermaa, ArtoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Manoochehri, MehdiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Margolin, SaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Matsuo, KeitaroUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mavroudis, DimitriosUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Meindl, AlfonsUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Milne, Roger L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mulligan, Anna MarieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Muranen, Taru A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Neuhausen, Susan L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nevanlinna, HeliUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Newman, William G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Olshan, Andrew F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Olson, Janet E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Olsson, HakanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Park-Simon, Tjoung-WonUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Peto, JulianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Petridis, ChristosUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Plaseska-Karanfilska, DijanaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Presneau, NadegeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pylkas, KatriUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Radice, PaoloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rennert, GadUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Romero, AtochaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Roylance, RebeccaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Saloustros, EmmanouilUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sawyer, Elinor J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmutzler, Rita K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schwentner, LukasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Scott, ChristopherUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
See, Mee-HoongUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shah, MitulUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shen, Chen-YangUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shu, Xiao-OuUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Siesling, SabineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Slager, SusanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sohn, ChristofUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Southey, Melissa C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Spinelli, John J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stone, JenniferUNSPECIFIEDorcid.org/0000-0001-5077-0124UNSPECIFIED
Tapper, William J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tengstrom, MariaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Teo, Soo HwangUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Terry, Mary BethUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tollenaar, Rob A. E. M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tomlinson, IanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Troester, Melissa A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vachon, Celine M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van Ongeval, ChantalUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van Veen, Elke M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Winqvist, RobertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wolk, AlicjaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zheng, WeiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ziogas, ArgyriosUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Easton, Douglas F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hall, PerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmidt, Marjanka K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-312031
Journal or Publication Title: Am. J. Hum. Genet.
Volume: 107
Number: 5
Page Range: S. 837 - 849
Date: 2020
Publisher: CELL PRESS
Place of Publication: CAMBRIDGE
ISSN: 1537-6605
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
ASSOCIATION ANALYSIS; PROGNOSIS; LOCI; AGEMultiple languages
Genetics & HeredityMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/31203

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