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Polygenic risk modeling for prediction of epithelial ovarian cancer risk
- Source :
- European Journal of Human Genetics, 30, 349-362, European Journal of Human Genetics, European Journal of Human Genetics, 30, 3, pp. 349-362, Dareng, E O, Tyrer, J P, Barnes, D R, Jones, M R, Yang, X, Aben, K K H, Adank, M A, Agata, S, Andrulis, I L, Anton-Culver, H, Antonenkova, N N, Aravantinos, G, Arun, B K, Augustinsson, A, Balmaña, J, Bandera, E V, Barkardottir, R B, Barrowdale, D, Beckmann, M W, Beeghly-Fadiel, A, Benitez, J, Bermisheva, M, Bernardini, M Q, Bjorge, L, Black, A, Bogdanova, N V, Bonanni, B, Borg, A, Brenton, J D, Budzilowska, A, Butzow, R, Buys, S S, Cai, H, Caligo, M A, Campbell, I, Cannioto, R, Cassingham, H, Chang-Claude, J, Chanock, S J, Chen, K, Chiew, Y E, Chung, W K, Claes, K B M, Colonna, S, Hansen, T V O, Høgdall, E, Høgdall, C K, Jensen, A, Kjaer, S K, Nielsen, F C, GEMO Study Collaborators, GC-HBOC Study Collaborators, EMBRACE Collaborators, OPAL Study Group, AOCS Group, kConFab Investigators, HEBON Investigators, OCAC Consortium & CIMBA Consortium 2022, ' Polygenic risk modeling for prediction of epithelial ovarian cancer risk ', European journal of human genetics : EJHG, vol. 30, no. 3, pp. 349-362 . https://doi.org/10.1038/s41431-021-00987-7, Dareng, E O, Tyrer, J P, Barnes, D R, Jones, M R, Yang, X, Aben, K K H, Adank, M A, Agata, S, Andrulis, I L, Anton-Culver, H, Antonenkova, N N, Aravantinos, G, Arun, B K, Augustinsson, A, Balmaña, J, Bandera, E V, Barkardottir, R B, Barrowdale, D, Beckmann, M W, Beeghly-Fadiel, A, Benitez, J, Bermisheva, M, Bernardini, M Q, Bjorge, L, Black, A, Bogdanova, N V, Bonanni, B, Borg, A, Brenton, J D, Budzilowska, A, Butzow, R, Buys, S S, Cai, H, Caligo, M A, Campbell, I, Cannioto, R, Cassingham, H, Chang-Claude, J, Chanock, S J, Chen, K, Chiew, Y E, Chung, W K, Claes, K B M, Hansen, T V O, Jensen, A, Nielsen, H R, Pedersen, I S, Thomassen, M, GEMO Study Collaborators, GC-HBOC study Collaborators, EMBRACE Collaborators, OPAL Study Group, AOCS Group, kConFab Investigators, HEBON Investigators, OCAC Consortium & CIMBA Consortium 2022, ' Polygenic risk modeling for prediction of epithelial ovarian cancer risk ', European Journal of Human Genetics, vol. 30, no. 3, pp. 349-362 . https://doi.org/10.1038/s41431-021-00987-7, Dareng, E O, Tyrer, J P, Barnes, D R, Jones, M R, Yang, X, Aben, K K H, Adank, M A, Agata, S, Andrulis, I L, Anton-Culver, H, Antonenkova, N N, Aravantinos, G, Arun, B K, Augustinsson, A, Balmaña, J, Bandera, E V, Barkardottir, R B, Barrowdale, D, Beckmann, M W, Beeghly-Fadiel, A, Benitez, J, Bermisheva, M, Bernardini, M Q, Bjorge, L, Black, A, Bogdanova, N V, Bonanni, B, Borg, A, Brenton, J D, Budzilowska, A, Butzow, R, Buys, S S, Cai, H, Caligo, M A, Campbell, I, Cannioto, R, Cassingham, H, Chang-Claude, J, Chanock, S J, Chen, K, Chiew, Y-E, Chung, W K, Claes, K B M, Colonna, S, Cook, L S, Couch, F J, Daly, M B, Dao, F, Davies, E, de la Hoya, M, de Putter, R, Dennis, J, DePersia, A, Devilee, P, Diez, O, Ding, Y C, Doherty, J A, Domchek, S M, Dörk, T, du Bois, A, Dürst, M, Eccles, D M, Eliassen, H A, Engel, C, Evans, G D, Fasching, P A, Flanagan, J M, Fortner, R T, Machackova, E, Friedman, E, Ganz, P A, Garber, J, Gensini, F, Giles, G G, Glendon, G, Godwin, A K, Goodman, M T, Greene, M H, Gronwald, J, Hahnen, E, Haiman, C A, Håkansson, N, Hamann, U, Hansen, T V O, Harris, H R, Hartman, M, Heitz, F, Hildebrandt, M A T, Høgdall, E, Høgdall, C K, Hopper, J L, Huang, R-Y, Huff, C, Hulick, P J, Huntsman, D G, Imyanitov, E N, Isaacs, C, Jakubowska, A, James, P A, Janavicius, R, Jensen, A, Johannsson, O T, John, E M, Jones, M E, Kang, D, Karlan, B Y, Karnezis, A, Kelemen, L E, Khusnutdinova, E, Kiemeney, L A, Kim, B-G, Kjaer, S K, Komenaka, I, Kupryjanczyk, J, Kurian, A W, Kwong, A, Lambrechts, D, Larson, M C, Lazaro, C, Le, N D, Leslie, G, Lester, J, Lesueur, F, Levine, D A, Li, L, Li, J, Loud, J T, Lu, K H, Lubiński, J, Mai, P L, Manoukian, S, Marks, J R, Matsuno, R K, Matsuo, K, May, T, McGuffog, L, McLaughlin, J R, McNeish, I A, Mebirouk, N, Menon, U, Miller, A, Milne, R L, Minlikeeva, A, Modugno, F, Montagna, M, Moysich, K B, Munro, E, Nathanson, K L, Neuhausen, S L, Nevanlinna, H, Yie, J N Y, Nielsen, H R, Nielsen, F C, Nikitina-Zake, L, Odunsi, K, Offit, K, Olah, E, Olbrecht, S, Olopade, O I, Olson, S H, Olsson, H, Osorio, A, Papi, L, Park, S K, Parsons, M T, Pathak, H, Pedersen, I S, Peixoto, A, Pejovic, T, Perez-Segura, P, Permuth, J B, Peshkin, B, Peterlongo, P, Piskorz, A, Prokofyeva, D, Radice, P, Rantala, J, Riggan, M J, Risch, H A, Rodriguez-Antona, C, Ross, E, Rossing, M A, Runnebaum, I, Sandler, D P, Santamariña, M, Soucy, P, Schmutzler, R K, Setiawan, V W, Shan, K, Sieh, W, Simard, J, Singer, C F, Sokolenko, A P, Song, H, Southey, M C, Steed, H, Stoppa-Lyonnet, D, Sutphen, R, Swerdlow, A J, Tan, Y Y, Teixeira, M R, Teo, S H, Terry, K L, Terry, M B, Thomassen, M, Thompson, P J, Thomsen, L C V, Thull, D L, Tischkowitz, M, Titus, L, Toland, A E, Torres, D, Trabert, B, Travis, R, Tung, N, Tworoger, S S, Valen, E, van Altena, A M, van der Hout, A H, Van Nieuwenhuysen, E, van Rensburg, E J, Vega, A, Edwards, D V, Vierkant, R A, Wang, F, Wappenschmidt, B, Webb, P M, Weinberg, C R, Weitzel, J N, Wentzensen, N, White, E, Whittemore, A S, Winham, S J, Wolk, A, Woo, Y-L, Wu, A H, Yan, L, Yannoukakos, D, Zavaglia, K M, Zheng, W, Ziogas, A, Zorn, K K, Kleibl, Z, Easton, D, Lawrenson, K, DeFazio, A, Sellers, T A, Ramus, S J, Pearce, C L, Monteiro, A N, Cunningham, J, Goode, E L, Schildkraut, J M, Berchuck, A, Chenevix-Trench, G, Gayther, S A, Antoniou, A C, Pharoah, P D P & GEMO Study Collaborators 2022, ' Polygenic risk modeling for prediction of epithelial ovarian cancer risk ', European Journal of Human Genetics, vol. 30, no. 3, pp. 349-362 . https://doi.org/10.1038/s41431-021-00987-7, European Journal of Human Genetics, 30, 349-362. SPRINGERNATURE, Dareng, EO, Tyrer, JP, Barnes, DR, Jones, MR, Yang, X, Aben, KKH, Adank, MA, Agata, S, Andrulis, IL, Anton-Culver, H, Antonenkova, NN, Aravantinos, G, Arun, BK, Pharoah, PDP & Evans, D G 2022, ' Polygenic risk modeling for prediction of epithelial ovarian cancer risk. ', European journal of human genetics : EJHG, vol. 30, no. 3, pp. 349-362 . https://doi.org/10.1038/s41431-021-00987-7, EUROPEAN JOURNAL OF HUMAN GENETICS, European journal of human genetics : EJHG, 30(3), 349-362. Nature Publishing Group, Scientia
- Publication Year :
- 2022
-
Abstract
- Clinical genetics; Genetic markers; Risk factors Genética clínica; Marcadores genéticos; Factores de riesgo Genètica clínica; Marcadors genètics; Factors de risc Polygenic risk scores (PRS) for epithelial ovarian cancer (EOC) have the potential to improve risk stratification. Joint estimation of Single Nucleotide Polymorphism (SNP) effects in models could improve predictive performance over standard approaches of PRS construction. Here, we implemented computationally efficient, penalized, logistic regression models (lasso, elastic net, stepwise) to individual level genotype data and a Bayesian framework with continuous shrinkage, “select and shrink for summary statistics” (S4), to summary level data for epithelial non-mucinous ovarian cancer risk prediction. We developed the models in a dataset consisting of 23,564 non-mucinous EOC cases and 40,138 controls participating in the Ovarian Cancer Association Consortium (OCAC) and validated the best models in three populations of different ancestries: prospective data from 198,101 women of European ancestries; 7,669 women of East Asian ancestries; 1,072 women of African ancestries, and in 18,915 BRCA1 and 12,337 BRCA2 pathogenic variant carriers of European ancestries. In the external validation data, the model with the strongest association for non-mucinous EOC risk derived from the OCAC model development data was the S4 model (27,240 SNPs) with odds ratios (OR) of 1.38 (95% CI: 1.28–1.48, AUC: 0.588) per unit standard deviation, in women of European ancestries; 1.14 (95% CI: 1.08–1.19, AUC: 0.538) in women of East Asian ancestries; 1.38 (95% CI: 1.21–1.58, AUC: 0.593) in women of African ancestries; hazard ratios of 1.36 (95% CI: 1.29–1.43, AUC: 0.592) in BRCA1 pathogenic variant carriers and 1.49 (95% CI: 1.35–1.64, AUC: 0.624) in BRCA2 pathogenic variant carriers. Incorporation of the S4 PRS in risk prediction models for ovarian cancer may have clinical utility in ovarian cancer prevention programs.
- Subjects :
- Male
Biochemistry & Molecular Biology
OCAC Consortium
Genetic Phenomena::Genotype::Genetic Predisposition to Disease [PHENOMENA AND PROCESSES]
Breast Neoplasms
Ovaris - Càncer - Aspectes genètics
Carcinoma, Ovarian Epithelial
SUSCEPTIBILITY
Polymorphism, Single Nucleotide
GEMO Study Collaborators
Risk Factors
OPAL Study Group
Other subheadings::Other subheadings::/genetics [Other subheadings]
Medicine and Health Sciences
Genetics
Ovaris - Càncer - Propensió
Humans
Genetic Predisposition to Disease
Prospective Studies
EMBRACE Collaborators
GC-HBOC Study Collaborators
Genetics (clinical)
HEBON Investigators
fenómenos genéticos::genotipo::predisposición genética a la enfermedad [FENÓMENOS Y PROCESOS]
Medicinsk genetik
Ovarian Neoplasms
Genetics & Heredity
0604 Genetics
Science & Technology
Otros calificadores::Otros calificadores::/genética [Otros calificadores]
1184 Genetics, developmental biology, physiology
Neoplasms::Neoplasms::Neoplasms by Site::Endocrine Gland Neoplasms::Ovarian Neoplasms::Carcinoma, Ovarian Epithelial [DISEASES]
1103 Clinical Sciences
Bayes Theorem
AOCS Group
neoplasias::neoplasias::neoplasias por localización::neoplasias de las glándulas endocrinas::neoplasias ováricas::carcinoma epitelial de ovario [ENFERMEDADES]
Women's cancers Radboud Institute for Health Sciences [Radboudumc 17]
Carcinoma, Ovarian Epithelial/genetics
Urological cancers Radboud Institute for Health Sciences [Radboudumc 15]
CIMBA Consortium
1182 Biochemistry, cell and molecular biology
Female
KConFab Investigators
Ovarian Neoplasms/epidemiology
Medical Genetics
Life Sciences & Biomedicine
Subjects
Details
- ISSN :
- 10184813 and 14765438
- Database :
- OpenAIRE
- Journal :
- European Journal of Human Genetics, 30, 349-362, European Journal of Human Genetics, European Journal of Human Genetics, 30, 3, pp. 349-362, Dareng, E O, Tyrer, J P, Barnes, D R, Jones, M R, Yang, X, Aben, K K H, Adank, M A, Agata, S, Andrulis, I L, Anton-Culver, H, Antonenkova, N N, Aravantinos, G, Arun, B K, Augustinsson, A, Balmaña, J, Bandera, E V, Barkardottir, R B, Barrowdale, D, Beckmann, M W, Beeghly-Fadiel, A, Benitez, J, Bermisheva, M, Bernardini, M Q, Bjorge, L, Black, A, Bogdanova, N V, Bonanni, B, Borg, A, Brenton, J D, Budzilowska, A, Butzow, R, Buys, S S, Cai, H, Caligo, M A, Campbell, I, Cannioto, R, Cassingham, H, Chang-Claude, J, Chanock, S J, Chen, K, Chiew, Y E, Chung, W K, Claes, K B M, Colonna, S, Hansen, T V O, Høgdall, E, Høgdall, C K, Jensen, A, Kjaer, S K, Nielsen, F C, GEMO Study Collaborators, GC-HBOC Study Collaborators, EMBRACE Collaborators, OPAL Study Group, AOCS Group, kConFab Investigators, HEBON Investigators, OCAC Consortium & CIMBA Consortium 2022, ' Polygenic risk modeling for prediction of epithelial ovarian cancer risk ', European journal of human genetics : EJHG, vol. 30, no. 3, pp. 349-362 . https://doi.org/10.1038/s41431-021-00987-7, Dareng, E O, Tyrer, J P, Barnes, D R, Jones, M R, Yang, X, Aben, K K H, Adank, M A, Agata, S, Andrulis, I L, Anton-Culver, H, Antonenkova, N N, Aravantinos, G, Arun, B K, Augustinsson, A, Balmaña, J, Bandera, E V, Barkardottir, R B, Barrowdale, D, Beckmann, M W, Beeghly-Fadiel, A, Benitez, J, Bermisheva, M, Bernardini, M Q, Bjorge, L, Black, A, Bogdanova, N V, Bonanni, B, Borg, A, Brenton, J D, Budzilowska, A, Butzow, R, Buys, S S, Cai, H, Caligo, M A, Campbell, I, Cannioto, R, Cassingham, H, Chang-Claude, J, Chanock, S J, Chen, K, Chiew, Y E, Chung, W K, Claes, K B M, Hansen, T V O, Jensen, A, Nielsen, H R, Pedersen, I S, Thomassen, M, GEMO Study Collaborators, GC-HBOC study Collaborators, EMBRACE Collaborators, OPAL Study Group, AOCS Group, kConFab Investigators, HEBON Investigators, OCAC Consortium & CIMBA Consortium 2022, ' Polygenic risk modeling for prediction of epithelial ovarian cancer risk ', European Journal of Human Genetics, vol. 30, no. 3, pp. 349-362 . https://doi.org/10.1038/s41431-021-00987-7, Dareng, E O, Tyrer, J P, Barnes, D R, Jones, M R, Yang, X, Aben, K K H, Adank, M A, Agata, S, Andrulis, I L, Anton-Culver, H, Antonenkova, N N, Aravantinos, G, Arun, B K, Augustinsson, A, Balmaña, J, Bandera, E V, Barkardottir, R B, Barrowdale, D, Beckmann, M W, Beeghly-Fadiel, A, Benitez, J, Bermisheva, M, Bernardini, M Q, Bjorge, L, Black, A, Bogdanova, N V, Bonanni, B, Borg, A, Brenton, J D, Budzilowska, A, Butzow, R, Buys, S S, Cai, H, Caligo, M A, Campbell, I, Cannioto, R, Cassingham, H, Chang-Claude, J, Chanock, S J, Chen, K, Chiew, Y-E, Chung, W K, Claes, K B M, Colonna, S, Cook, L S, Couch, F J, Daly, M B, Dao, F, Davies, E, de la Hoya, M, de Putter, R, Dennis, J, DePersia, A, Devilee, P, Diez, O, Ding, Y C, Doherty, J A, Domchek, S M, Dörk, T, du Bois, A, Dürst, M, Eccles, D M, Eliassen, H A, Engel, C, Evans, G D, Fasching, P A, Flanagan, J M, Fortner, R T, Machackova, E, Friedman, E, Ganz, P A, Garber, J, Gensini, F, Giles, G G, Glendon, G, Godwin, A K, Goodman, M T, Greene, M H, Gronwald, J, Hahnen, E, Haiman, C A, Håkansson, N, Hamann, U, Hansen, T V O, Harris, H R, Hartman, M, Heitz, F, Hildebrandt, M A T, Høgdall, E, Høgdall, C K, Hopper, J L, Huang, R-Y, Huff, C, Hulick, P J, Huntsman, D G, Imyanitov, E N, Isaacs, C, Jakubowska, A, James, P A, Janavicius, R, Jensen, A, Johannsson, O T, John, E M, Jones, M E, Kang, D, Karlan, B Y, Karnezis, A, Kelemen, L E, Khusnutdinova, E, Kiemeney, L A, Kim, B-G, Kjaer, S K, Komenaka, I, Kupryjanczyk, J, Kurian, A W, Kwong, A, Lambrechts, D, Larson, M C, Lazaro, C, Le, N D, Leslie, G, Lester, J, Lesueur, F, Levine, D A, Li, L, Li, J, Loud, J T, Lu, K H, Lubiński, J, Mai, P L, Manoukian, S, Marks, J R, Matsuno, R K, Matsuo, K, May, T, McGuffog, L, McLaughlin, J R, McNeish, I A, Mebirouk, N, Menon, U, Miller, A, Milne, R L, Minlikeeva, A, Modugno, F, Montagna, M, Moysich, K B, Munro, E, Nathanson, K L, Neuhausen, S L, Nevanlinna, H, Yie, J N Y, Nielsen, H R, Nielsen, F C, Nikitina-Zake, L, Odunsi, K, Offit, K, Olah, E, Olbrecht, S, Olopade, O I, Olson, S H, Olsson, H, Osorio, A, Papi, L, Park, S K, Parsons, M T, Pathak, H, Pedersen, I S, Peixoto, A, Pejovic, T, Perez-Segura, P, Permuth, J B, Peshkin, B, Peterlongo, P, Piskorz, A, Prokofyeva, D, Radice, P, Rantala, J, Riggan, M J, Risch, H A, Rodriguez-Antona, C, Ross, E, Rossing, M A, Runnebaum, I, Sandler, D P, Santamariña, M, Soucy, P, Schmutzler, R K, Setiawan, V W, Shan, K, Sieh, W, Simard, J, Singer, C F, Sokolenko, A P, Song, H, Southey, M C, Steed, H, Stoppa-Lyonnet, D, Sutphen, R, Swerdlow, A J, Tan, Y Y, Teixeira, M R, Teo, S H, Terry, K L, Terry, M B, Thomassen, M, Thompson, P J, Thomsen, L C V, Thull, D L, Tischkowitz, M, Titus, L, Toland, A E, Torres, D, Trabert, B, Travis, R, Tung, N, Tworoger, S S, Valen, E, van Altena, A M, van der Hout, A H, Van Nieuwenhuysen, E, van Rensburg, E J, Vega, A, Edwards, D V, Vierkant, R A, Wang, F, Wappenschmidt, B, Webb, P M, Weinberg, C R, Weitzel, J N, Wentzensen, N, White, E, Whittemore, A S, Winham, S J, Wolk, A, Woo, Y-L, Wu, A H, Yan, L, Yannoukakos, D, Zavaglia, K M, Zheng, W, Ziogas, A, Zorn, K K, Kleibl, Z, Easton, D, Lawrenson, K, DeFazio, A, Sellers, T A, Ramus, S J, Pearce, C L, Monteiro, A N, Cunningham, J, Goode, E L, Schildkraut, J M, Berchuck, A, Chenevix-Trench, G, Gayther, S A, Antoniou, A C, Pharoah, P D P & GEMO Study Collaborators 2022, ' Polygenic risk modeling for prediction of epithelial ovarian cancer risk ', European Journal of Human Genetics, vol. 30, no. 3, pp. 349-362 . https://doi.org/10.1038/s41431-021-00987-7, European Journal of Human Genetics, 30, 349-362. SPRINGERNATURE, Dareng, EO, Tyrer, JP, Barnes, DR, Jones, MR, Yang, X, Aben, KKH, Adank, MA, Agata, S, Andrulis, IL, Anton-Culver, H, Antonenkova, NN, Aravantinos, G, Arun, BK, Pharoah, PDP & Evans, D G 2022, ' Polygenic risk modeling for prediction of epithelial ovarian cancer risk. ', European journal of human genetics : EJHG, vol. 30, no. 3, pp. 349-362 . https://doi.org/10.1038/s41431-021-00987-7, EUROPEAN JOURNAL OF HUMAN GENETICS, European journal of human genetics : EJHG, 30(3), 349-362. Nature Publishing Group, Scientia
- Accession number :
- edsair.doi.dedup.....b939ea350f4badd9d5221d81be255d14