Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel
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Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel. / Levi, Hagai; Carmi, Shai; Rosset, Saharon; Yerushalmi, Rinat; Zick, Aviad; Yablonski-Peretz, Tamar; Wang, Qin; Bolla, Manjeet K; Dennis, Joe; Michailidou, Kyriaki; Lush, Michael; Ahearn, Thomas; Andrulis, Irene L; Anton-Culver, Hoda; Antoniou, Antonis C; Arndt, Volker; Augustinsson, Annelie; Auvinen, Päivi; Beane Freeman, Laura; Beckmann, Matthias; Behrens, Sabine; Bermisheva, Marina; Bodelon, Clara; Bogdanova, Natalia V; Bojesen, Stig E; Brenner, Hermann; Byers, Helen; Camp, Nicola; Castelao, Jose; Chang-Claude, Jenny; Chirlaque, María-Dolores; Chung, Wendy; Clarke, Christine; Collee, Margriet J; Colonna, Sarah; Couch, Fergus; Cox, Angela; Cross, Simon S; Czene, Kamila; Daly, Mary; Devilee, Peter; Dork, Thilo; Dossus, Laure; Eccles, Diana M; Eliassen, A Heather; Eriksson, Mikael; Evans, Gareth; Fasching, Peter; Fletcher, Olivia; Flyger, Henrik; Fritschi, Lin; Gabrielson, Marike; Gago-Dominguez, Manuela; García-Closas, Montserrat; Garcia-Saenz, Jose Angel; Genkinger, Jeanine; Giles, Graham G; Goldberg, Mark; Guénel, Pascal; Hall, Per; Hamann, Ute; He, Wei; Hillemanns, Peter; Hollestelle, Antoinette; Hoppe, Reiner; Hopper, John; Jakovchevska, Simona; Jakubowska, Anna; Jernström, Helena; John, Esther; Johnson, Nichola; Jones, Michael; Vijai, Joseph; Kaaks, Rudolf; Khusnutdinova, Elza; Kitahara, Cari; Koutros, Stella; Kristensen, Vessela; Kurian, Allison W; Lacey, James; Lambrechts, Diether; Le Marchand, Loic; Lejbkowicz, Flavio; Lindblom, Annika; Loibl, Sibylle; Lori, Adriana; Lubinski, Jan; Mannermaa, Arto; Manoochehri, Mehdi; Mavroudis, Dimitrios; Menon, Usha; Mulligan, AnnaMarie; Murphy, Rachel; Nevelsteen, Ines; Newman, William G; Obi, Nadia; O'Brien, Katie; Offit, Ken; Olshan, Andrew; Plaseska-Karanfilska, Dijana; Olson, Janet; Park-Simon, Tjoung-Won; Patel, Alpa; Peterlongo, Paolo; Rack, Brigitte; Radice, Paolo; Rennert, Gad; Rhenius, Valerie; Romero, Atocha; Saloustros, Emmanouil; Sandler, Dale; Schmidt, Marjanka K; Schwentner, Lukas; Shah, Mitul; Sharma, Priyanka; Simard, Jacques; Southey, Melissa; Stone, Jennifer; Tapper, William J; Taylor, Jack; Teras, Lauren; Toland, Amanda E; Troester, Melissa; Truong, Thérèse; van der Kolk, Lizet E; Weinberg, Clarice; Wendt, Camilla; Yang, Xiaohong Rose; Zheng, Wei; Ziogas, Argyrios; Dunning, Alison M; Pharoah, Paul; Easton, Douglas F; Ben-Sachar, Shay; Elefant, Naama; Shamir, Ron; Elkon, Ran; Breast Cancer Association Consortium (BCAC).
in: J MED GENET, Jahrgang 60, Nr. 12, 27.11.2023, S. 1186-1197.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel
AU - Levi, Hagai
AU - Carmi, Shai
AU - Rosset, Saharon
AU - Yerushalmi, Rinat
AU - Zick, Aviad
AU - Yablonski-Peretz, Tamar
AU - Wang, Qin
AU - Bolla, Manjeet K
AU - Dennis, Joe
AU - Michailidou, Kyriaki
AU - Lush, Michael
AU - Ahearn, Thomas
AU - Andrulis, Irene L
AU - Anton-Culver, Hoda
AU - Antoniou, Antonis C
AU - Arndt, Volker
AU - Augustinsson, Annelie
AU - Auvinen, Päivi
AU - Beane Freeman, Laura
AU - Beckmann, Matthias
AU - Behrens, Sabine
AU - Bermisheva, Marina
AU - Bodelon, Clara
AU - Bogdanova, Natalia V
AU - Bojesen, Stig E
AU - Brenner, Hermann
AU - Byers, Helen
AU - Camp, Nicola
AU - Castelao, Jose
AU - Chang-Claude, Jenny
AU - Chirlaque, María-Dolores
AU - Chung, Wendy
AU - Clarke, Christine
AU - Collee, Margriet J
AU - Colonna, Sarah
AU - Couch, Fergus
AU - Cox, Angela
AU - Cross, Simon S
AU - Czene, Kamila
AU - Daly, Mary
AU - Devilee, Peter
AU - Dork, Thilo
AU - Dossus, Laure
AU - Eccles, Diana M
AU - Eliassen, A Heather
AU - Eriksson, Mikael
AU - Evans, Gareth
AU - Fasching, Peter
AU - Fletcher, Olivia
AU - Flyger, Henrik
AU - Fritschi, Lin
AU - Gabrielson, Marike
AU - Gago-Dominguez, Manuela
AU - García-Closas, Montserrat
AU - Garcia-Saenz, Jose Angel
AU - Genkinger, Jeanine
AU - Giles, Graham G
AU - Goldberg, Mark
AU - Guénel, Pascal
AU - Hall, Per
AU - Hamann, Ute
AU - He, Wei
AU - Hillemanns, Peter
AU - Hollestelle, Antoinette
AU - Hoppe, Reiner
AU - Hopper, John
AU - Jakovchevska, Simona
AU - Jakubowska, Anna
AU - Jernström, Helena
AU - John, Esther
AU - Johnson, Nichola
AU - Jones, Michael
AU - Vijai, Joseph
AU - Kaaks, Rudolf
AU - Khusnutdinova, Elza
AU - Kitahara, Cari
AU - Koutros, Stella
AU - Kristensen, Vessela
AU - Kurian, Allison W
AU - Lacey, James
AU - Lambrechts, Diether
AU - Le Marchand, Loic
AU - Lejbkowicz, Flavio
AU - Lindblom, Annika
AU - Loibl, Sibylle
AU - Lori, Adriana
AU - Lubinski, Jan
AU - Mannermaa, Arto
AU - Manoochehri, Mehdi
AU - Mavroudis, Dimitrios
AU - Menon, Usha
AU - Mulligan, AnnaMarie
AU - Murphy, Rachel
AU - Nevelsteen, Ines
AU - Newman, William G
AU - Obi, Nadia
AU - O'Brien, Katie
AU - Offit, Ken
AU - Olshan, Andrew
AU - Plaseska-Karanfilska, Dijana
AU - Olson, Janet
AU - Park-Simon, Tjoung-Won
AU - Patel, Alpa
AU - Peterlongo, Paolo
AU - Rack, Brigitte
AU - Radice, Paolo
AU - Rennert, Gad
AU - Rhenius, Valerie
AU - Romero, Atocha
AU - Saloustros, Emmanouil
AU - Sandler, Dale
AU - Schmidt, Marjanka K
AU - Schwentner, Lukas
AU - Shah, Mitul
AU - Sharma, Priyanka
AU - Simard, Jacques
AU - Southey, Melissa
AU - Stone, Jennifer
AU - Tapper, William J
AU - Taylor, Jack
AU - Teras, Lauren
AU - Toland, Amanda E
AU - Troester, Melissa
AU - Truong, Thérèse
AU - van der Kolk, Lizet E
AU - Weinberg, Clarice
AU - Wendt, Camilla
AU - Yang, Xiaohong Rose
AU - Zheng, Wei
AU - Ziogas, Argyrios
AU - Dunning, Alison M
AU - Pharoah, Paul
AU - Easton, Douglas F
AU - Ben-Sachar, Shay
AU - Elefant, Naama
AU - Shamir, Ron
AU - Elkon, Ran
AU - Breast Cancer Association Consortium (BCAC)
N1 - © Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY. Published by BMJ.
PY - 2023/11/27
Y1 - 2023/11/27
N2 - BACKGROUND: Polygenic risk score (PRS), calculated based on genome-wide association studies (GWASs), can improve breast cancer (BC) risk assessment. To date, most BC GWASs have been performed in individuals of European (EUR) ancestry, and the generalisation of EUR-based PRS to other populations is a major challenge. In this study, we examined the performance of EUR-based BC PRS models in Ashkenazi Jewish (AJ) women.METHODS: We generated PRSs based on data on EUR women from the Breast Cancer Association Consortium (BCAC). We tested the performance of the PRSs in a cohort of 2161 AJ women from Israel (1437 cases and 724 controls) from BCAC (BCAC cohort from Israel (BCAC-IL)). In addition, we tested the performance of these EUR-based BC PRSs, as well as the established 313-SNP EUR BC PRS, in an independent cohort of 181 AJ women from Hadassah Medical Center (HMC) in Israel.RESULTS: In the BCAC-IL cohort, the highest OR per 1 SD was 1.56 (±0.09). The OR for AJ women at the top 10% of the PRS distribution compared with the middle quintile was 2.10 (±0.24). In the HMC cohort, the OR per 1 SD of the EUR-based PRS that performed best in the BCAC-IL cohort was 1.58±0.27. The OR per 1 SD of the commonly used 313-SNP BC PRS was 1.64 (±0.28).CONCLUSIONS: Extant EUR GWAS data can be used for generating PRSs that identify AJ women with markedly elevated risk of BC and therefore hold promise for improving BC risk assessment in AJ women.
AB - BACKGROUND: Polygenic risk score (PRS), calculated based on genome-wide association studies (GWASs), can improve breast cancer (BC) risk assessment. To date, most BC GWASs have been performed in individuals of European (EUR) ancestry, and the generalisation of EUR-based PRS to other populations is a major challenge. In this study, we examined the performance of EUR-based BC PRS models in Ashkenazi Jewish (AJ) women.METHODS: We generated PRSs based on data on EUR women from the Breast Cancer Association Consortium (BCAC). We tested the performance of the PRSs in a cohort of 2161 AJ women from Israel (1437 cases and 724 controls) from BCAC (BCAC cohort from Israel (BCAC-IL)). In addition, we tested the performance of these EUR-based BC PRSs, as well as the established 313-SNP EUR BC PRS, in an independent cohort of 181 AJ women from Hadassah Medical Center (HMC) in Israel.RESULTS: In the BCAC-IL cohort, the highest OR per 1 SD was 1.56 (±0.09). The OR for AJ women at the top 10% of the PRS distribution compared with the middle quintile was 2.10 (±0.24). In the HMC cohort, the OR per 1 SD of the EUR-based PRS that performed best in the BCAC-IL cohort was 1.58±0.27. The OR per 1 SD of the commonly used 313-SNP BC PRS was 1.64 (±0.28).CONCLUSIONS: Extant EUR GWAS data can be used for generating PRSs that identify AJ women with markedly elevated risk of BC and therefore hold promise for improving BC risk assessment in AJ women.
U2 - 10.1136/jmg-2023-109185
DO - 10.1136/jmg-2023-109185
M3 - SCORING: Journal article
C2 - 37451831
VL - 60
SP - 1186
EP - 1197
JO - J MED GENET
JF - J MED GENET
SN - 0022-2593
IS - 12
ER -