Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk
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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; Collée, J Margriet; Couch, Fergus J; Cox, Angela; Cross, Simon S; Czene, Kamila; Daly, Mary B; Devilee, Peter; Dörk, Thilo; Dos-Santos-Silva, Isabel; Dunning, Alison M; Dwek, Miriam; Eccles, Diana M; Evans, D Gareth; Fasching, Peter A; Flyger, Henrik; Gago-Dominguez, Manuela; García-Closas, Montserrat; García-Sáenz, José A; Giles, Graham G; Goldgar, David E; González-Neira, Anna; Haiman, Christopher A; Håkansson, Niclas; Hamann, Ute; Hartman, Mikael; Heemskerk-Gerritsen, Bernadette A M; Hollestelle, Antoinette; Hopper, John L; Hou, Ming-Feng; Howell, Anthony; Ito, Hidemi; Jakimovska, Milena; Jakubowska, Anna; Janni, Wolfgang; John, Esther M; Jung, Audrey; Kang, Daehee; Kets, C Marleen; Khusnutdinova, Elza; Ko, Yon-Dschun; Kristensen, Vessela N; Kurian, Allison W; Kwong, Ava; Lambrechts, Diether; Le Marchand, Loic; Li, Jingmei; Lindblom, Annika; Lubiński, Jan; 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, Håkan; Park-Simon, Tjoung-Won; Peto, Julian; Petridis, Christos; Plaseska-Karanfilska, Dijana; Presneau, Nadege; Pylkäs, 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; Tapper, William J; Tengström, 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; Schmidt, Marjanka K; NBCS Collaborators.
in: AM J HUM GENET, Jahrgang 107, Nr. 5, 05.11.2020, S. 837-848.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk
AU - Kramer, Iris
AU - Hooning, Maartje J
AU - Mavaddat, Nasim
AU - Hauptmann, Michael
AU - Keeman, Renske
AU - Steyerberg, Ewout W
AU - Giardiello, Daniele
AU - Antoniou, Antonis C
AU - Pharoah, Paul D P
AU - Canisius, Sander
AU - Abu-Ful, Zumuruda
AU - Andrulis, Irene L
AU - Anton-Culver, Hoda
AU - Aronson, Kristan J
AU - Augustinsson, Annelie
AU - Becher, Heiko
AU - Beckmann, Matthias W
AU - Behrens, Sabine
AU - Benitez, Javier
AU - Bermisheva, Marina
AU - Bogdanova, Natalia V
AU - Bojesen, Stig E
AU - Bolla, Manjeet K
AU - Bonanni, Bernardo
AU - Brauch, Hiltrud
AU - Bremer, Michael
AU - Brucker, Sara Y
AU - Burwinkel, Barbara
AU - Castelao, Jose E
AU - Chan, Tsun L
AU - Chang-Claude, Jenny
AU - Chanock, Stephen J
AU - Chenevix-Trench, Georgia
AU - Choi, Ji-Yeob
AU - Clarke, Christine L
AU - Collée, J Margriet
AU - Couch, Fergus J
AU - Cox, Angela
AU - Cross, Simon S
AU - Czene, Kamila
AU - Daly, Mary B
AU - Devilee, Peter
AU - Dörk, Thilo
AU - Dos-Santos-Silva, Isabel
AU - Dunning, Alison M
AU - Dwek, Miriam
AU - Eccles, Diana M
AU - Evans, D Gareth
AU - Fasching, Peter A
AU - Flyger, Henrik
AU - Gago-Dominguez, Manuela
AU - García-Closas, Montserrat
AU - García-Sáenz, José A
AU - Giles, Graham G
AU - Goldgar, David E
AU - González-Neira, Anna
AU - Haiman, Christopher A
AU - Håkansson, Niclas
AU - Hamann, Ute
AU - Hartman, Mikael
AU - Heemskerk-Gerritsen, Bernadette A M
AU - Hollestelle, Antoinette
AU - Hopper, John L
AU - Hou, Ming-Feng
AU - Howell, Anthony
AU - Ito, Hidemi
AU - Jakimovska, Milena
AU - Jakubowska, Anna
AU - Janni, Wolfgang
AU - John, Esther M
AU - Jung, Audrey
AU - Kang, Daehee
AU - Kets, C Marleen
AU - Khusnutdinova, Elza
AU - Ko, Yon-Dschun
AU - Kristensen, Vessela N
AU - Kurian, Allison W
AU - Kwong, Ava
AU - Lambrechts, Diether
AU - Le Marchand, Loic
AU - Li, Jingmei
AU - Lindblom, Annika
AU - Lubiński, Jan
AU - Mannermaa, Arto
AU - Manoochehri, Mehdi
AU - Margolin, Sara
AU - Matsuo, Keitaro
AU - Mavroudis, Dimitrios
AU - Meindl, Alfons
AU - Milne, Roger L
AU - Mulligan, Anna Marie
AU - Muranen, Taru A
AU - Neuhausen, Susan L
AU - Nevanlinna, Heli
AU - Newman, William G
AU - Olshan, Andrew F
AU - Olson, Janet E
AU - Olsson, Håkan
AU - Park-Simon, Tjoung-Won
AU - Peto, Julian
AU - Petridis, Christos
AU - Plaseska-Karanfilska, Dijana
AU - Presneau, Nadege
AU - Pylkäs, Katri
AU - Radice, Paolo
AU - Rennert, Gad
AU - Romero, Atocha
AU - Roylance, Rebecca
AU - Saloustros, Emmanouil
AU - Sawyer, Elinor J
AU - Schmutzler, Rita K
AU - Schwentner, Lukas
AU - Scott, Christopher
AU - See, Mee-Hoong
AU - Shah, Mitul
AU - Shen, Chen-Yang
AU - Shu, Xiao-Ou
AU - Siesling, Sabine
AU - Slager, Susan
AU - Sohn, Christof
AU - Southey, Melissa C
AU - Spinelli, John J
AU - Stone, Jennifer
AU - Tapper, William J
AU - Tengström, Maria
AU - Teo, Soo Hwang
AU - Terry, Mary Beth
AU - Tollenaar, Rob A E M
AU - Tomlinson, Ian
AU - Troester, Melissa A
AU - Vachon, Celine M
AU - van Ongeval, Chantal
AU - van Veen, Elke M
AU - Winqvist, Robert
AU - Wolk, Alicja
AU - Zheng, Wei
AU - Ziogas, Argyrios
AU - Easton, Douglas F
AU - Hall, Per
AU - Schmidt, Marjanka K
AU - NBCS Collaborators
N1 - Copyright © 2020 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
PY - 2020/11/5
Y1 - 2020/11/5
N2 - 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.
AB - 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.
U2 - 10.1016/j.ajhg.2020.09.001
DO - 10.1016/j.ajhg.2020.09.001
M3 - SCORING: Journal article
C2 - 33022221
VL - 107
SP - 837
EP - 848
JO - AM J HUM GENET
JF - AM J HUM GENET
SN - 0002-9297
IS - 5
ER -