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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, Vol. 60, No. 12, 27.11.2023, p. 1186-1197.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Levi, H, Carmi, S, Rosset, S, Yerushalmi, R, Zick, A, Yablonski-Peretz, T, Wang, Q, Bolla, MK, Dennis, J, Michailidou, K, Lush, M, Ahearn, T, Andrulis, IL, Anton-Culver, H, Antoniou, AC, Arndt, V, Augustinsson, A, Auvinen, P, Beane Freeman, L, Beckmann, M, Behrens, S, Bermisheva, M, Bodelon, C, Bogdanova, NV, Bojesen, SE, Brenner, H, Byers, H, Camp, N, Castelao, J, Chang-Claude, J, Chirlaque, M-D, Chung, W, Clarke, C, Collee, MJ, Colonna, S, Couch, F, Cox, A, Cross, SS, Czene, K, Daly, M, Devilee, P, Dork, T, Dossus, L, Eccles, DM, Eliassen, AH, Eriksson, M, Evans, G, Fasching, P, Fletcher, O, Flyger, H, Fritschi, L, Gabrielson, M, Gago-Dominguez, M, García-Closas, M, Garcia-Saenz, JA, Genkinger, J, Giles, GG, Goldberg, M, Guénel, P, Hall, P, Hamann, U, He, W, Hillemanns, P, Hollestelle, A, Hoppe, R, Hopper, J, Jakovchevska, S, Jakubowska, A, Jernström, H, John, E, Johnson, N, Jones, M, Vijai, J, Kaaks, R, Khusnutdinova, E, Kitahara, C, Koutros, S, Kristensen, V, Kurian, AW, Lacey, J, Lambrechts, D, Le Marchand, L, Lejbkowicz, F, Lindblom, A, Loibl, S, Lori, A, Lubinski, J, Mannermaa, A, Manoochehri, M, Mavroudis, D, Menon, U, Mulligan, A, Murphy, R, Nevelsteen, I, Newman, WG, Obi, N, O'Brien, K, Offit, K, Olshan, A, Plaseska-Karanfilska, D, Olson, J, Park-Simon, T-W, Patel, A, Peterlongo, P, Rack, B, Radice, P, Rennert, G, Rhenius, V, Romero, A, Saloustros, E, Sandler, D, Schmidt, MK, Schwentner, L, Shah, M, Sharma, P, Simard, J, Southey, M, Stone, J, Tapper, WJ, Taylor, J, Teras, L, Toland, AE, Troester, M, Truong, T, van der Kolk, LE, Weinberg, C, Wendt, C, Yang, XR, Zheng, W, Ziogas, A, Dunning, AM, Pharoah, P, Easton, DF, Ben-Sachar, S, Elefant, N, Shamir, R, Elkon, R & Breast Cancer Association Consortium (BCAC) 2023, 'Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel', J MED GENET, vol. 60, no. 12, pp. 1186-1197. https://doi.org/10.1136/jmg-2023-109185

APA

Levi, H., Carmi, S., Rosset, S., Yerushalmi, R., Zick, A., Yablonski-Peretz, T., Wang, Q., Bolla, M. K., Dennis, J., Michailidou, K., Lush, M., Ahearn, T., Andrulis, I. L., Anton-Culver, H., Antoniou, A. C., Arndt, V., Augustinsson, A., Auvinen, P., Beane Freeman, L., ... Breast Cancer Association Consortium (BCAC) (2023). Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel. J MED GENET, 60(12), 1186-1197. https://doi.org/10.1136/jmg-2023-109185

Vancouver

Levi H, Carmi S, Rosset S, Yerushalmi R, Zick A, Yablonski-Peretz T et al. Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel. J MED GENET. 2023 Nov 27;60(12):1186-1197. https://doi.org/10.1136/jmg-2023-109185

Bibtex

@article{f0a8ef6d49a94f11b113ad8c9795f349,
title = "Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel",
abstract = "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.",
author = "Hagai Levi and Shai Carmi and Saharon Rosset and Rinat Yerushalmi and Aviad Zick and Tamar Yablonski-Peretz and Qin Wang and Bolla, {Manjeet K} and Joe Dennis and Kyriaki Michailidou and Michael Lush and Thomas Ahearn and Andrulis, {Irene L} and Hoda Anton-Culver and Antoniou, {Antonis C} and Volker Arndt and Annelie Augustinsson and P{\"a}ivi Auvinen and {Beane Freeman}, Laura and Matthias Beckmann and Sabine Behrens and Marina Bermisheva and Clara Bodelon and Bogdanova, {Natalia V} and Bojesen, {Stig E} and Hermann Brenner and Helen Byers and Nicola Camp and Jose Castelao and Jenny Chang-Claude and Mar{\'i}a-Dolores Chirlaque and Wendy Chung and Christine Clarke and Collee, {Margriet J} and Sarah Colonna and Fergus Couch and Angela Cox and Cross, {Simon S} and Kamila Czene and Mary Daly and Peter Devilee and Thilo Dork and Laure Dossus and Eccles, {Diana M} and Eliassen, {A Heather} and Mikael Eriksson and Gareth Evans and Peter Fasching and Olivia Fletcher and Henrik Flyger and Lin Fritschi and Marike Gabrielson and Manuela Gago-Dominguez and Montserrat Garc{\'i}a-Closas and Garcia-Saenz, {Jose Angel} and Jeanine Genkinger and Giles, {Graham G} and Mark Goldberg and Pascal Gu{\'e}nel and Per Hall and Ute Hamann and Wei He and Peter Hillemanns and Antoinette Hollestelle and Reiner Hoppe and John Hopper and Simona Jakovchevska and Anna Jakubowska and Helena Jernstr{\"o}m and Esther John and Nichola Johnson and Michael Jones and Joseph Vijai and Rudolf Kaaks and Elza Khusnutdinova and Cari Kitahara and Stella Koutros and Vessela Kristensen and Kurian, {Allison W} and James Lacey and Diether Lambrechts and {Le Marchand}, Loic and Flavio Lejbkowicz and Annika Lindblom and Sibylle Loibl and Adriana Lori and Jan Lubinski and Arto Mannermaa and Mehdi Manoochehri and Dimitrios Mavroudis and Usha Menon and AnnaMarie Mulligan and Rachel Murphy and Ines Nevelsteen and Newman, {William G} and Nadia Obi and Katie O'Brien and Ken Offit and Andrew Olshan and Dijana Plaseska-Karanfilska and Janet Olson and Tjoung-Won Park-Simon and Alpa Patel and Paolo Peterlongo and Brigitte Rack and Paolo Radice and Gad Rennert and Valerie Rhenius and Atocha Romero and Emmanouil Saloustros and Dale Sandler and Schmidt, {Marjanka K} and Lukas Schwentner and Mitul Shah and Priyanka Sharma and Jacques Simard and Melissa Southey and Jennifer Stone and Tapper, {William J} and Jack Taylor and Lauren Teras and Toland, {Amanda E} and Melissa Troester and Th{\'e}r{\`e}se Truong and {van der Kolk}, {Lizet E} and Clarice Weinberg and Camilla Wendt and Yang, {Xiaohong Rose} and Wei Zheng and Argyrios Ziogas and Dunning, {Alison M} and Paul Pharoah and Easton, {Douglas F} and Shay Ben-Sachar and Naama Elefant and Ron Shamir and Ran Elkon and {Breast Cancer Association Consortium (BCAC)}",
note = "{\textcopyright} Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY. Published by BMJ.",
year = "2023",
month = nov,
day = "27",
doi = "10.1136/jmg-2023-109185",
language = "English",
volume = "60",
pages = "1186--1197",
journal = "J MED GENET",
issn = "0022-2593",
publisher = "BMJ PUBLISHING GROUP",
number = "12",

}

RIS

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 -