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Combined associations of a polygenic risk score and classical risk factors with breast cancer risk

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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; Lindström, 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; Beeghly-Fadiel, Alicia; Benitez, Javier; Bernstein, Leslie; Bojesen, Stig E; Brauch, Hiltrud; Brenner, Hermann; Brüning, 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; Fritschi, Lin; Gabrielson, Marike; Gago-Dominguez, Manuela; Gao, Chi; Gapstur, Susan M; Gaudet, Mia M; Giles, Graham G; González-Neira, Anna; Guénel, Pascal; Haeberle, Lothar; Haiman, Christopher A; Håkansson, Niclas; Hall, Per; Hamann, Ute; Hatse, Sigrid; Heyworth, Jane; Holleczek, Bernd; Hoover, Robert N; Hopper, John L; Howell, Anthony; Hunter, David J; John, Esther M; Jones, Michael E; Kaaks, Rudolf; Keeman, Renske; Kitahara, Cari M; Ko, Yon-Dschun; Koutros, Stella; Kurian, Allison W; Lambrechts, Diether; Marchand, Loic Le; Lee, Eunjung; Lejbkowicz, Flavio; Linet, Martha; Lissowska, Jolanta; Llaneza, Ana; MacInnis, Robert J; Martinez, Maria Elena; Maurer, Tabea; McLean, Catriona; Neuhausen, Susan L; Newman, William G; Norman, Aaron; O'Brien, Katie M; Olshan, Andrew F; Olson, Janet E; Olsson, Håkan; Orr, Nick; Perou, Charles M; Pita, Guillermo; Polley, Eric C; Prentice, Ross L; Rennert, Gad; Rennert, Hedy S; Ruddy, Kathryn J; Sandler, Dale P; Saunders, Christobel; Schoemaker, Minouk J; Schöttker, Ben; Schumacher, Fredrick; Scott, Christopher; Scott, Rodney J; Shu, Xiao-Ou; Smeets, Ann; Southey, Melissa C; Spinelli, John J; Stone, Jennifer; Swerdlow, Anthony J; Tamimi, Rulla M; Taylor, Jack A; Troester, Melissa A; Vachon, Celine M; van Veen, Elke M; Wang, Xiaoliang; Weinberg, Clarice R; Weltens, Caroline; Willett, Walter; Winham, Stacey J; Wolk, Alicja; Yang, Xiaohong R; Zheng, Wei; Ziogas, Argyrios; Dunning, Alison M; Pharoah, Paul D P; Schmidt, Marjanka K; Kraft, Peter; Easton, Douglas F; Milne, Roger L; García-Closas, Montserrat; Chang-Claude, Jenny; ABCTB Investigators.

In: JNCI-J NATL CANCER I, Vol. 113, No. 3, 01.03.2021, p. 329-337.

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

Harvard

Kapoor, PM, Mavaddat, N, Choudhury, PP, Wilcox, AN, Lindström, S, Behrens, S, Michailidou, K, Dennis, J, Bolla, MK, Wang, Q, Jung, A, Abu-Ful, Z, Ahearn, T, Andrulis, IL, Anton-Culver, H, Arndt, V, Aronson, KJ, Auer, PL, Freeman, LEB, Becher, H, Beeghly-Fadiel, A, Benitez, J, Bernstein, L, Bojesen, SE, Brauch, H, Brenner, H, Brüning, T, Cai, Q, Campa, D, Canzian, F, Carracedo, A, Carter, BD, Castelao, JE, Chanock, SJ, Chatterjee, N, Chenevix-Trench, G, Clarke, CL, Couch, FJ, Cox, A, Cross, SS, Czene, K, Dai, JY, Earp, HS, Ekici, AB, Eliassen, AH, Eriksson, M, Evans, DG, Fasching, PA, Figueroa, J, Fritschi, L, Gabrielson, M, Gago-Dominguez, M, Gao, C, Gapstur, SM, Gaudet, MM, Giles, GG, González-Neira, A, Guénel, P, Haeberle, L, Haiman, CA, Håkansson, N, Hall, P, Hamann, U, Hatse, S, Heyworth, J, Holleczek, B, Hoover, RN, Hopper, JL, Howell, A, Hunter, DJ, John, EM, Jones, ME, Kaaks, R, Keeman, R, Kitahara, CM, Ko, Y-D, Koutros, S, Kurian, AW, Lambrechts, D, Marchand, LL, Lee, E, Lejbkowicz, F, Linet, M, Lissowska, J, Llaneza, A, MacInnis, RJ, Martinez, ME, Maurer, T, McLean, C, Neuhausen, SL, Newman, WG, Norman, A, O'Brien, KM, Olshan, AF, Olson, JE, Olsson, H, Orr, N, Perou, CM, Pita, G, Polley, EC, Prentice, RL, Rennert, G, Rennert, HS, Ruddy, KJ, Sandler, DP, Saunders, C, Schoemaker, MJ, Schöttker, B, Schumacher, F, Scott, C, Scott, RJ, Shu, X-O, Smeets, A, Southey, MC, Spinelli, JJ, Stone, J, Swerdlow, AJ, Tamimi, RM, Taylor, JA, Troester, MA, Vachon, CM, van Veen, EM, Wang, X, Weinberg, CR, Weltens, C, Willett, W, Winham, SJ, Wolk, A, Yang, XR, Zheng, W, Ziogas, A, Dunning, AM, Pharoah, PDP, Schmidt, MK, Kraft, P, Easton, DF, Milne, RL, García-Closas, M, Chang-Claude, J & ABCTB Investigators 2021, 'Combined associations of a polygenic risk score and classical risk factors with breast cancer risk', JNCI-J NATL CANCER I, vol. 113, no. 3, pp. 329-337. https://doi.org/10.1093/jnci/djaa056

APA

Kapoor, P. M., Mavaddat, N., Choudhury, P. P., Wilcox, A. N., Lindström, S., Behrens, S., Michailidou, K., Dennis, J., Bolla, M. K., Wang, Q., Jung, A., Abu-Ful, Z., Ahearn, T., Andrulis, I. L., Anton-Culver, H., Arndt, V., Aronson, K. J., Auer, P. L., Freeman, L. E. B., ... ABCTB Investigators (2021). Combined associations of a polygenic risk score and classical risk factors with breast cancer risk. JNCI-J NATL CANCER I, 113(3), 329-337. https://doi.org/10.1093/jnci/djaa056

Vancouver

Kapoor PM, Mavaddat N, Choudhury PP, Wilcox AN, Lindström S, Behrens S et al. Combined associations of a polygenic risk score and classical risk factors with breast cancer risk. JNCI-J NATL CANCER I. 2021 Mar 1;113(3):329-337. https://doi.org/10.1093/jnci/djaa056

Bibtex

@article{b520f378c1774572b036fd504d31bf55,
title = "Combined associations of a polygenic risk score and classical risk factors with breast cancer risk",
abstract = "We evaluated the joint associations between a new 313-variant PRS (PRS313) and questionnaire-based breast cancer risk factors for women of European ancestry, using 72,284 cases and 80,354 controls from the Breast Cancer Association Consortium. Interactions were evaluated using standard logistic regression, and a newly developed case-only method, for breast cancer risk overall and by estrogen receptor status. After accounting for multiple testing, we did not find evidence that per-standard deviation PRS313 odds ratio differed across strata defined by individual risk factors. Goodness-of-fit tests did not reject the assumption of a multiplicative model between PRS313 and each risk factor. Variation in projected absolute lifetime risk of breast cancer associated with classical risk factors was greater for women with higher genetic risk (PRS313 and family history), and on average 17.5% higher in the highest vs lowest deciles of genetic risk. These findings have implications for risk prevention for women at increased risk of breast cancer.",
author = "Kapoor, {Pooja Middha} and Nasim Mavaddat and Choudhury, {Parichoy Pal} and Wilcox, {Amber N} and Sara Lindstr{\"o}m and Sabine Behrens and Kyriaki Michailidou and Joe Dennis and Bolla, {Manjeet K} and Qin Wang and Audrey Jung and Zomoroda Abu-Ful and Thomas Ahearn and Andrulis, {Irene L} and Hoda Anton-Culver and Volker Arndt and Aronson, {Kristan J} and Auer, {Paul L} and Freeman, {Laura E Beane} and Heiko Becher and Alicia Beeghly-Fadiel and Javier Benitez and Leslie Bernstein and Bojesen, {Stig E} and Hiltrud Brauch and Hermann Brenner and Thomas Br{\"u}ning and Qiuyin Cai and Daniele Campa and Federico Canzian and Angel Carracedo and Carter, {Brian D} and Castelao, {Jose E} and Chanock, {Stephen J} and Nilanjan Chatterjee and Georgia Chenevix-Trench and Clarke, {Christine L} and Couch, {Fergus J} and Angela Cox and Cross, {Simon S} and Kamila Czene and Dai, {James Y} and Earp, {H Shelton} and Ekici, {Arif B} and Eliassen, {A Heather} and Mikael Eriksson and Evans, {D Gareth} and Fasching, {Peter A} and Jonine Figueroa and Lin Fritschi and Marike Gabrielson and Manuela Gago-Dominguez and Chi Gao and Gapstur, {Susan M} and Gaudet, {Mia M} and Giles, {Graham G} and Anna Gonz{\'a}lez-Neira and Pascal Gu{\'e}nel and Lothar Haeberle and Haiman, {Christopher A} and Niclas H{\aa}kansson and Per Hall and Ute Hamann and Sigrid Hatse and Jane Heyworth and Bernd Holleczek and Hoover, {Robert N} and Hopper, {John L} and Anthony Howell and Hunter, {David J} and John, {Esther M} and Jones, {Michael E} and Rudolf Kaaks and Renske Keeman and Kitahara, {Cari M} and Yon-Dschun Ko and Stella Koutros and Kurian, {Allison W} and Diether Lambrechts and Marchand, {Loic Le} and Eunjung Lee and Flavio Lejbkowicz and Martha Linet and Jolanta Lissowska and Ana Llaneza and MacInnis, {Robert J} and Martinez, {Maria Elena} and Tabea Maurer and Catriona McLean and Neuhausen, {Susan L} and Newman, {William G} and Aaron Norman and O'Brien, {Katie M} and Olshan, {Andrew F} and Olson, {Janet E} and H{\aa}kan Olsson and Nick Orr and Perou, {Charles M} and Guillermo Pita and Polley, {Eric C} and Prentice, {Ross L} and Gad Rennert and Rennert, {Hedy S} and Ruddy, {Kathryn J} and Sandler, {Dale P} and Christobel Saunders and Schoemaker, {Minouk J} and Ben Sch{\"o}ttker and Fredrick Schumacher and Christopher Scott and Scott, {Rodney J} and Xiao-Ou Shu and Ann Smeets and Southey, {Melissa C} and Spinelli, {John J} and Jennifer Stone and Swerdlow, {Anthony J} and Tamimi, {Rulla M} and Taylor, {Jack A} and Troester, {Melissa A} and Vachon, {Celine M} and {van Veen}, {Elke M} and Xiaoliang Wang and Weinberg, {Clarice R} and Caroline Weltens and Walter Willett and Winham, {Stacey J} and Alicja Wolk and Yang, {Xiaohong R} and Wei Zheng and Argyrios Ziogas and Dunning, {Alison M} and Pharoah, {Paul D P} and Schmidt, {Marjanka K} and Peter Kraft and Easton, {Douglas F} and Milne, {Roger L} and Montserrat Garc{\'i}a-Closas and Jenny Chang-Claude and {ABCTB Investigators}",
note = "{\textcopyright} The Author(s) 2020. Published by Oxford University Press.",
year = "2021",
month = mar,
day = "1",
doi = "10.1093/jnci/djaa056",
language = "English",
volume = "113",
pages = "329--337",
journal = "JNCI-J NATL CANCER I",
issn = "0027-8874",
publisher = "Oxford University Press",
number = "3",

}

RIS

TY - JOUR

T1 - Combined associations of a polygenic risk score and classical risk factors with breast cancer risk

AU - Kapoor, Pooja Middha

AU - Mavaddat, Nasim

AU - Choudhury, Parichoy Pal

AU - Wilcox, Amber N

AU - Lindström, Sara

AU - Behrens, Sabine

AU - Michailidou, Kyriaki

AU - Dennis, Joe

AU - Bolla, Manjeet K

AU - Wang, Qin

AU - Jung, Audrey

AU - Abu-Ful, Zomoroda

AU - Ahearn, Thomas

AU - Andrulis, Irene L

AU - Anton-Culver, Hoda

AU - Arndt, Volker

AU - Aronson, Kristan J

AU - Auer, Paul L

AU - Freeman, Laura E Beane

AU - Becher, Heiko

AU - Beeghly-Fadiel, Alicia

AU - Benitez, Javier

AU - Bernstein, Leslie

AU - Bojesen, Stig E

AU - Brauch, Hiltrud

AU - Brenner, Hermann

AU - Brüning, Thomas

AU - Cai, Qiuyin

AU - Campa, Daniele

AU - Canzian, Federico

AU - Carracedo, Angel

AU - Carter, Brian D

AU - Castelao, Jose E

AU - Chanock, Stephen J

AU - Chatterjee, Nilanjan

AU - Chenevix-Trench, Georgia

AU - Clarke, Christine L

AU - Couch, Fergus J

AU - Cox, Angela

AU - Cross, Simon S

AU - Czene, Kamila

AU - Dai, James Y

AU - Earp, H Shelton

AU - Ekici, Arif B

AU - Eliassen, A Heather

AU - Eriksson, Mikael

AU - Evans, D Gareth

AU - Fasching, Peter A

AU - Figueroa, Jonine

AU - Fritschi, Lin

AU - Gabrielson, Marike

AU - Gago-Dominguez, Manuela

AU - Gao, Chi

AU - Gapstur, Susan M

AU - Gaudet, Mia M

AU - Giles, Graham G

AU - González-Neira, Anna

AU - Guénel, Pascal

AU - Haeberle, Lothar

AU - Haiman, Christopher A

AU - Håkansson, Niclas

AU - Hall, Per

AU - Hamann, Ute

AU - Hatse, Sigrid

AU - Heyworth, Jane

AU - Holleczek, Bernd

AU - Hoover, Robert N

AU - Hopper, John L

AU - Howell, Anthony

AU - Hunter, David J

AU - John, Esther M

AU - Jones, Michael E

AU - Kaaks, Rudolf

AU - Keeman, Renske

AU - Kitahara, Cari M

AU - Ko, Yon-Dschun

AU - Koutros, Stella

AU - Kurian, Allison W

AU - Lambrechts, Diether

AU - Marchand, Loic Le

AU - Lee, Eunjung

AU - Lejbkowicz, Flavio

AU - Linet, Martha

AU - Lissowska, Jolanta

AU - Llaneza, Ana

AU - MacInnis, Robert J

AU - Martinez, Maria Elena

AU - Maurer, Tabea

AU - McLean, Catriona

AU - Neuhausen, Susan L

AU - Newman, William G

AU - Norman, Aaron

AU - O'Brien, Katie M

AU - Olshan, Andrew F

AU - Olson, Janet E

AU - Olsson, Håkan

AU - Orr, Nick

AU - Perou, Charles M

AU - Pita, Guillermo

AU - Polley, Eric C

AU - Prentice, Ross L

AU - Rennert, Gad

AU - Rennert, Hedy S

AU - Ruddy, Kathryn J

AU - Sandler, Dale P

AU - Saunders, Christobel

AU - Schoemaker, Minouk J

AU - Schöttker, Ben

AU - Schumacher, Fredrick

AU - Scott, Christopher

AU - Scott, Rodney J

AU - Shu, Xiao-Ou

AU - Smeets, Ann

AU - Southey, Melissa C

AU - Spinelli, John J

AU - Stone, Jennifer

AU - Swerdlow, Anthony J

AU - Tamimi, Rulla M

AU - Taylor, Jack A

AU - Troester, Melissa A

AU - Vachon, Celine M

AU - van Veen, Elke M

AU - Wang, Xiaoliang

AU - Weinberg, Clarice R

AU - Weltens, Caroline

AU - Willett, Walter

AU - Winham, Stacey J

AU - Wolk, Alicja

AU - Yang, Xiaohong R

AU - Zheng, Wei

AU - Ziogas, Argyrios

AU - Dunning, Alison M

AU - Pharoah, Paul D P

AU - Schmidt, Marjanka K

AU - Kraft, Peter

AU - Easton, Douglas F

AU - Milne, Roger L

AU - García-Closas, Montserrat

AU - Chang-Claude, Jenny

AU - ABCTB Investigators

N1 - © The Author(s) 2020. Published by Oxford University Press.

PY - 2021/3/1

Y1 - 2021/3/1

N2 - We evaluated the joint associations between a new 313-variant PRS (PRS313) and questionnaire-based breast cancer risk factors for women of European ancestry, using 72,284 cases and 80,354 controls from the Breast Cancer Association Consortium. Interactions were evaluated using standard logistic regression, and a newly developed case-only method, for breast cancer risk overall and by estrogen receptor status. After accounting for multiple testing, we did not find evidence that per-standard deviation PRS313 odds ratio differed across strata defined by individual risk factors. Goodness-of-fit tests did not reject the assumption of a multiplicative model between PRS313 and each risk factor. Variation in projected absolute lifetime risk of breast cancer associated with classical risk factors was greater for women with higher genetic risk (PRS313 and family history), and on average 17.5% higher in the highest vs lowest deciles of genetic risk. These findings have implications for risk prevention for women at increased risk of breast cancer.

AB - We evaluated the joint associations between a new 313-variant PRS (PRS313) and questionnaire-based breast cancer risk factors for women of European ancestry, using 72,284 cases and 80,354 controls from the Breast Cancer Association Consortium. Interactions were evaluated using standard logistic regression, and a newly developed case-only method, for breast cancer risk overall and by estrogen receptor status. After accounting for multiple testing, we did not find evidence that per-standard deviation PRS313 odds ratio differed across strata defined by individual risk factors. Goodness-of-fit tests did not reject the assumption of a multiplicative model between PRS313 and each risk factor. Variation in projected absolute lifetime risk of breast cancer associated with classical risk factors was greater for women with higher genetic risk (PRS313 and family history), and on average 17.5% higher in the highest vs lowest deciles of genetic risk. These findings have implications for risk prevention for women at increased risk of breast cancer.

U2 - 10.1093/jnci/djaa056

DO - 10.1093/jnci/djaa056

M3 - SCORING: Journal article

C2 - 32359158

VL - 113

SP - 329

EP - 337

JO - JNCI-J NATL CANCER I

JF - JNCI-J NATL CANCER I

SN - 0027-8874

IS - 3

ER -