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5. Vertical modeling: analysis of competing risks data with a cure proportion

Author

Nicolaie, M. A., Taylor, J. M. G., and Legrand, C.

Subjects
Statistics - Methodology
Abstract

In this paper, we extend the vertical modeling approach for the analysis of survival data with competing risks to incorporate a cured fraction in the population, that is, a proportion of the population for which none of the competing events can occur. The proposed method has three components: the proportion of cure, the risk of failure, irrespective of the cause, and the relative risk of a certain cause of failure, given a failure occurred. Covariates may affect each of these components. An appealing aspect of the method is that it is a natural extension to competing risks of the semi-parametric mixture cure model in ordinary survival analysis; thus, causes of failure are assigned only if a failure occurs. This contrasts with the existing mixture cure model for competing risks of Larson and Dinse, which conditions at the onset on the future status presumably attained. Regression parameter estimates are obtained using an EM-algorithm. The performance of the estimators is evaluated in a simulation study. The method is illustrated using a melanoma cancer data set., Comment: 21 pages, 4 figures

Published
2015

6. Design of axially loaded piles — Belgian practice

Author

Holeyman, A., primary, Bauduin, C., additional, Bottiau, M., additional, Debacker, P., additional, De Cock, F., additional, Dupont, E., additional, Hilde, J. L., additional, Legrand, C., additional, Huybrechts, N., additional, Mengé, P., additional, Miller, J.P., additional, and Simon, G., additional

Published
2020
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8. Design of axially loaded piles - 1997 Belgian Practice

Author

Holeyman, A., primary, Bauduin, C., additional, Bottiau, M., additional, Debacker, P., additional, De Cock, F., additional, Dupont, E., additional, Hilde, J.L., additional, Legrand, C., additional, Huybrechts, N., additional, Menge, P., additional, Miller, J.P., additional, and Simon, G., additional

Published
2020
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16. 40-nm RFSOI technology exhibiting 90fs RON × COFF and fT/fMAX of 250 GHz/350 GHz targeting sub-6 GHz and mmW 5G applications

Author

Crémer, S., primary, Pelloux, N., additional, Gianesello, F., additional, Mourier, Y., additional, Haury, G., additional, de Albuquerque, T. Chaves, additional, Monsieur, F., additional, Audouin, H., additional, Legrand, C. A., additional, Diouf, C., additional, Goncalves, J. Azevedo, additional, Belem Goncalves, C., additional, Durand, C., additional, Vulliet, N., additional, Berthier, L., additional, Souchier, E., additional, Garcia, P., additional, Jan, S., additional, Hello, M., additional, Rellier, M. L., additional, Scheer, P., additional, Duriez, B., additional, Garros, X., additional, Bordignon, T., additional, Paillardet, F., additional, and Chevalier, P., additional

Published
2023
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23. A Novel 8-Predictors Signature to Predict Complicated Disease Course in Pediatric-onset Crohn’s Disease: A Population-based Study

Author

Sarter, Hélène, Savoye, Guillaume, Marot, Guillemette, Ley, Delphine, Turck, Dominique, Hugot, Jean-Pierre, Vasseur, Francis, Duhamel, Alain, Wils, Pauline, Princen, Fred, Colombel, Jean-Frédéric, Gower-Rousseau, Corinne, Fumery, Mathurin, Al Hameedi, R, Al Khatib, M, Al Turk, S, Agoute, E, Andre, J, Antonietti, M, Aouakli, A, Armand, A, Armengol-Debeir, L, Aroichane, I, Assi, F, Aubet, J, Auxenfants, E, Avram, A, Ayafi-Ramelot, F, Azzouzi, K, Bankovski, D, Barbry, B, Bardoux, N, Baron, P, Baudet, A, Bayart, P, Bazin, B, Bebahani, A, Becqwort, J, Bellati, S, Benet, V, Benali, H, Benard, C, Benguigui, C, Ben Soussan, E, Bental, A, Berkelmans, I, Bernet, J, Bernou, K, Bernou-Dron, C, Bertot, P, Bertiaux-Vandaële, N, Bertrand, V, Billoud, E, Biron, N, Bismuth, B, Bleuet, M, Blondel, F, Blondin, V, Bobula, M, Bohon, P, Bondjemah, V, Boniface, E, Bonkovski, D, Bonnière, P, Bonvarlet, E, Bonvarlet, P, Boruchowicz, A, Bostvironnois, R, Boualit, M, Bouazza, A, Bouche, B, Boudaillez, C, Bourgeaux, C, Bourgeois, M, Bourguet, A, Bourienne, A, Boutaleb, H, Bouthors, A, Branche, J, Bray, G, Brazier, F, Breban, P, Bridenne, M, Brihier, H, Bril, L, Brung-Lefebvre, V, Bulois, P, Burgiere, P, Butel, J, Canva, J, Canva-Delcambre, V, Capron, J, Cardot, F, Carette, S, Carpentier, P, Cartier, E, Cassar, J, Cassagnou, M, Castex, J, Catala, P, Cattan, S, Catteau, S, Caujolle, B, Cayron, G, Chandelier, C, Chantre, M, Charles, J, Charneau, T, Chavance-Thelu, M, Cheny, A, Chirita, D, Choteau, A, Claerbout, J, Clergue, P, Coevoet, H, Cohen, G, Collet, R, Colin, M, Colombel, J, Coopman, S, Cordiez, L, Corvisart, J, Cortot, A, Couttenier, F, Crinquette, J, Crombe, V, Dadamessi, I, Daoudi, H, Dapvril, V, Davion, T, Dautreme, S, Debas, J, Decoster, S, Degrave, N, Dehont, F, Delatre, C, Delcenserie, R, Delesalle, D, Delette, O, Delgrange, T, Delhoustal, L, Delmotte, J, Demmane, S, Deregnaucourt, G, Descombes, P, Desechalliers, J, Desmet, P, Desreumaux, P, Desseaux, G, Desurmont, P, Devienne, A, Devouge, E, Devred, M, Devroux, A, Dewailly, A, Dharancy, S, Di Fiore, A, Djedir, D, Djedir, R, Doleh, W, Dreher-Duwat, M, Dubois, R, Duburque, C, Ducatillon, P, Duclay, J, Ducrocq, B, Ducrot, F, Ducrotte, P, Dufilho, A, Duhamel, C, Dujardin, D, Dumant-Forest, C, Dupas, J, Dupont, F, Duranton, Y, Duriez, A, Duveau, N, El Achkar, K, El Farisi, M, Elie, C, Elie-Legrand, M, Elkhaki, A, Eoche, M, Essmaeel, E, Evrard, D, Evrard, J, Fatome, A, Filoche, B, Finet, L, Flahaut, M, Flamme, C, Foissey, D, Fournier, P, Foutrein-Comes, M, Foutrein, P, Fremond, D, Frere, T, Gallais, P, Gamblin, C, Ganga, S, Gerard, R, Geslin, G, Gheyssens, Y, Ghossini, N, Ghrib, S, Gilbert, T, Gillet, B, Godart, D, Godard, P, Godchaux, J, Godchaux, R, Goegebeur, G, Goria, O, Gottrand, F, Gower, P, Grandmaison, B, Groux, M, Guedon, C, Guerbeau, L, Gueroult-Dero, M, Guillard, J, Guillem, L, Guillemot, F, Guimberd, D, Haddouche, B, Hakim, S, Hanon, D, Hautefeuille, V, Heckestweiller, P, Hecquet, G, Hedde, J, Hellal, H, Henneresse, P, Heyman, B, Heraud, M, Herve, S, Hochain, P, Houssin-Bailly, L, Houcke, P, Huguenin, B, Iobagiu, S, Istanboli, S, Ivanovic, A, Iwanicki-Caron, I, Janicki, E, Jarry, M, Jeu, J, Joly, J, Jonas, C, Jouvenet, A, Katherin, F, Kerleveo, A, Khachfe, A, Kiriakos, A, Kiriakos, J, Klein, O, Kohut, M, Kornhauser, R, Koutsomanis, D, Laberenne, J, Lacotte, E, Laffineur, G, Lagarde, M, Lalanne, A, Lalieu, A, Lannoy, P, Lapchin, J, Laprand, M, Laude, D, Leblanc, R, Lecieux, P, Lecleire, S, Leclerc, N, Le Couteulx, C, Ledent, J, Lefebvre, J, Lefiliatre, P, Le Goffic, C, Legrand, C, Le Grix, A, Lelong, P, Leluyer, B, Lemaitre, C, Lenaerts, C, Lepeut, G, Lepileur, L, Leplat, A, Lepoutre-Dujardin, E, Leroi, H, Leroy, M, Le Roy, P, Lesage, B, Lesage, J, Lesage, X, Lescanne-Darchis, I, Lescut, J, Lescut, D, Leurent, B, Levy, P, Lhermie, M, Libier, L, Lion, A, Lisambert, B, Loge, I, Loire, F, Loreau, J, Louf, S, Louvet, A, Lubret, L, Luciani, M, Lucidarme, D, Lugand, J, Macaigne, O, Maetz, D, Maillard, D, Mancheron, H, Manolache, O, Marks-Brunel, A, Marre, C, Marti, R, Martin, F, Martin, G, Marzloff, E, Mathurin, P, Mauillon, J, Maunoury, V, Maupas, J, Medam Djomo, M, Mechior, C, Melki, Z, Mesnard, B, Metayer, P, Methari, L, Meurisse, B, Meurisse, F, Michaud, L, Mirmaran, X, Modaine, P, Monthe, A, Morel, L, Mortier, P, Moulin, E, Mouterde, O, Mozziconaci, N, Mudry, J, Nachury, M, Ngo, M, N’guyen Khac, Eric, Notteghem, B, Ollevier, V, Ostyn, A, Ouraghi, A, Oussadou, B, Ouvry, D, Paillot, B, Painchart, C, Panien-Claudot, N, Paoletti, C, Papazian, A, Parent, B, Pariente, B, Paris, J, Patrier, P, Paupard, T, Pauwels, B, Pauwels, M, Penninck, E, Petit, R, Piat, M, Piotte, S, Plane, C, Plouvier, B, Pollet, E, Pommelet, P, Pop, D, Pordes, C, Pouchain, G, Prades, P, Prevost, A, Prevost, J, Quartier, G, Quesnel, B, Queuniet, A, Quinton, J, Rabache, A, Rabelle, P, Raclot, G, Ratajczyk, S, Rault, D, Razemon, V, Reix, N, Renaut-Vantroys, T, Revillion, M, Riachi, G, Richez, C, Robinson, P, Rodriguez, J, Roger, J, Roux, J, Rudelli, A, Saber, A, Savoye, G, Schlossberg, P, Sefrioui, D, Segrestin, M, Seguy, D, Seminur, C, Serin, M, Seryer, A, Sevenet, F, Shekh, N, Silvie, J, Simon, V, Spyckerelle, C, Talbodec, N, Tavernier, N, Tchandeu, H, Techy, A, Thelu, J, Thevenin, A, Thiebault, H, Thomas, J, Thorel, J, Thuillier, C, Tielman, G, Tode, M, Toisin, J, Tonnel, J, Touchais, J, Toumelin, P, Touze, Y, Tranvouez, J, Triplet, C, Triki, N, Turck, D, Uhlen, S, Vaillant, E, Valmage, C, Vanco, D, Vandaele-Bertiaux, N, Vandamme, H, Vanderbecq, E, Vander Eecken, E, Vandermolen, P, Vandevenne, P, Vandeville, L, Vandewalle, A, Vandewalle, C, Vaneslander, P, Vanhoove, J, Vanrenterghem, A, Vanveuren, C, Varlet, P, Vasies, I, Verbiese, G, Verlynde, J, Vernier-Massouille, G, Vermelle, P, Verne, C, Vezilier-Cocq, P, Vigneron, B, Vincendet, M, Viot, J, Voiment, Y, Wacrenier, A, Waeghemaecker, L, Wallez, J, Wantiez, M, Wartel, F, Weber, J, Willocquet, J, Wizla, N, Wolschies, E, Zaharia, O, Zaoui, S, Zalar, A, Zaouri, B, Zellweger, A, Ziade, C, Beaugerie, L, Allez, M, Ruemmele, F, Lamer, A, Roy, M, CHU Lille, Institute for Translational Research in Inflammation - U 1286 (INFINITE (Ex-Liric)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Nutrition, Inflammation et axe Microbiote-Intestin-Cerveau (ADEN), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institute for Research and Innovation in Biomedicine (IRIB), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institute for Research and Innovation in Biomedicine (IRIB), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Normandie Université (NU), Service d'Hépato-Gastroentérologie [CHU Rouen], Hôpital Charles Nicolle [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Evaluation des technologies de santé et des pratiques médicales - ULR 2694 (METRICS), Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service des Maladies de l'Appareil Digestif et de la Nutrition [CHRU Lille], Hôpital Claude Huriez [Lille], CHU Lille-CHU Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre Hospitalier Universitaire de Reims (CHU Reims), Périnatalité et Risques Toxiques - UMR INERIS_I 1 (PERITOX), Institut National de l'Environnement Industriel et des Risques (INERIS)-Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie, CHU Amiens-Picardie, Registre EPIMAD, Normandie Université (NU)-Normandie Université (NU)-CHU Amiens-Picardie-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Department of Colloid Chemistry [Potsdam], Max Planck Institute of Colloids and Interfaces, Max-Planck-Gesellschaft-Max-Planck-Gesellschaft, Groupe de Recherche sur l'alcool et les pharmacodépendances - UMR INSERM_S 1247 (GRAP), and Université de Picardie Jules Verne (UPJV)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
Crohn’s disease, inflammatory bowel disease, complication, genetics, prediction, prognosis, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

International audience; Background The identification of patients at high risk of a disabling disease course would be invaluable in guiding initial therapy in Crohn’s disease (CD). Our objective was to evaluate a combination of clinical, serological, and genetic factors to predict complicated disease course in pediatric-onset CD. Methods Data for pediatric-onset CD patients, diagnosed before 17 years of age between 1988 and 2004 and followed more than 5 years, were extracted from the population-based EPIMAD registry. The main outcome was defined by the occurrence of complicated behavior (stricturing or penetrating) and/or intestinal resection within the 5 years following diagnosis. Lasso logistic regression models were used to build a predictive model based on clinical data at diagnosis, serological data (ASCA, pANCA, anti-OmpC, anti-Cbir1, anti-Fla2, anti-Flax), and 369 candidate single nucleotide polymorphisms. Results In total, 156 children with an inflammatory (B1) disease at diagnosis were included. Among them, 35% (n = 54) progressed to a complicated behavior or an intestinal resection within the 5 years following diagnosis. The best predictive model (PREDICT-EPIMAD) included the location at diagnosis, pANCA, and 6 single nucleotide polymorphisms. This model showed good discrimination and good calibration, with an area under the curve of 0.80 after correction for optimism bias (sensitivity, 79%, specificity, 74%, positive predictive value, 61%, negative predictive value, 87%). Decision curve analysis confirmed the clinical utility of the model. Conclusions A combination of clinical, serotypic, and genotypic variables can predict disease progression in this population-based pediatric-onset CD cohort. Independent validation is needed before it can be used in clinical practice.

Published
2023
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25. Impact of Extra-Intestinal Manifestations at Diagnosis on Disease Outcome in Pediatric- and Elderly-Onset Crohn′s Disease: A French Population-Based Study

Author

Duricova, Dana, Sarter, Hélène, Savoye, Guillaume, Leroyer, Ariane, Pariente, Benjamin, Armengol-Debeir, Laura, Bouguen, Guillaume, Ley, Delphine, Turck, Dominique, Templier, Carole, Buche, Sebastien, Peyrin-Biroulet, Laurent, Gower-Rousseau, Corinne, Fumery, Mathurin, Andre, J M, Antonietti, M, Aouakli, A, Armand, A, Aroichane, I, Assi, F, Aubet, J P, Auxenfants, E, Ayafi-Ramelot, F, Bankovski, D, Barbry, B, Bardoux, N, Baron, P, Baudet, A, Bazin, B, Bebahani, A, Becqwort, J P, Benet, V, Benali, H, Benguigui, C, Ben Soussan, E, Bental, A, Berkelmans, I, Bernet, J, Bernou, K, Bernou-Dron, C, Bertot, P, Bertiaux-Vandaële, N, Bertrand, V, Billoud, E, Biron, N, Bismuth, B, Bleuet, M, Blondel, F, Blondin, V, Bohon, P, Boniface, E, Bonnière, P, Bonvarlet, E, Bonvarlet, P, Boruchowicz, A, Bostvironnois, R, Boualit, M, Bouche, B, Boudaillez, C, Bourgeaux, C, Bourgeois, M, Bourguet, A, Bourienne, A, Branche, J, Bray, G, Brazier, F, Breban, P, Brihier, H, Brung-Lefebvre, V, Bulois, P, Burgiere, P, Butel, J, Canva, J Y, Canva-Delcambre, V, Capron, J P, Cardot, F, Carpentier, P, Cartier, E, Cassar, J F, Cassagnou, M, Castex, J F, Catala, P, Cattan, S, Catteau, S, Caujolle, B, Cayron, G, Chandelier, C, Chantre, M, Charles, J, Charneau, T, Chavance-Thelu, M, Chirita, D, Choteau, A, Claerbout, J F, Clergue, P Y, Coevoet, H, Cohen, G, Collet, R, Colombel, J F, Coopman, S, Corvisart, J, Cortot, A, Couttenier, F, Crinquette, J F, Crombe, V, Dadamessi, I, Dapvril, V, Davion, T, Dautreme, S, Debas, J, Degrave, N, Dehont, F, Delatre, C, Delcenserie, R, Delette, O, Delgrange, T, Delhoustal, L, Delmotte, J S, Demmane, S, Deregnaucourt, G, Descombes, P, Desechalliers, J P, Desmet, P, Desreumaux, P, Desseaux, G, Desurmont, P, Devienne, A, Devouge, E, Devred, M, Devroux, A, Dewailly, A, Dharancy, S, Di Fiore, A, Djeddi, D, Djedir, R, Dreher-Duwat, M L, Dubois, R, Dubuque, C, Ducatillon, P, Duclay, J, Ducrocq, B, Ducrot, F, Ducrotté, P, Dufilho, A, Duhamel, C, Dujardin, D, Dumant-Forest, C, Dupas, J L, Dupont, F, Duranton, Y, Duriez, A, El Achkar, K, El Farisi, M, Elie, C, Elie-Legrand, M C, Elkhaki, A, Eoche, M, Evrard, D, Evrard, J P, Fatome, A, Filoche, B, Finet, L, Flahaut, M, Flamme, C, Foissey, D, Fournier, P, Foutrein- Comes, M C, Foutrein, P, Fremond, D, Frere, T, Fumery, M, Gallet, P, Gamblin, C, Ganga-Zandzou, S, Gerard, R, Geslin, G, Gheyssens, Y, Ghossini, N, Ghrib, S, Gilbert, T, Gillet, B, Godard, D, Godard, P, Godchaux, J M, Godchaux, R, Goegebeur, G, Goria, O, Gottrand, F, Gower, P, Grandmaison, B, Groux, M, Guedon, C, Guillard, J F, Guillem, L, Guillemot, F, Guimber, D, Haddouche, B, Hakim, S, Hanon, D, Hautefeuille, V, Heckestweiller, P, Hecquet, G, Hedde, J P, Hellal, H, Henneresse, P E, Heyman, B, Heraud, M, Herve, S, Hochain, P, Houssin-Bailly, L, Houcke, P, Huguenin, B, Iobagiu, S, Ivanovic, A, Iwanicki-Caron, I, Janicki, E, Jarry, M, Jeu, J, Joly, J P, Jonas, C, Katherin, F, Kerleveo, A, Khachfe, A, Kiriakos, A, Kiriakos, J, Klein, O, Kohut, M, Kornhauser, R, Koutsomanis, D, Laberenne, J E, Laffineur, G, Lagarde, M, Lannoy, P, Lapchin, J, Lapprand, M, Laude, D, Leblanc, R, Lecieux, P, Leclerc, N, Le Couteulx, C, Ledent, J, Lefebvre, J, Lefiliatre, P, Legrand, C, Le Grix, A, Lelong, P, Leluyer, B, Lenaerts, C, Lepileur, L, Leplat, A, Lepoutre-Dujardin, E, Leroi, H, Leroy, M Y, Lesage, J P, Lesage, X, Lesage, J, Lescanne-Darchis, I, Lescut, J, Lescut, D, Leurent, B, Levy, P, Lhermie, M, Lion, A, Lisambert, B, Loire, F, Louf, S, Louvet, A, Luciani, M, Lucidarme, D, Lugand, J, Macaigne, O, Maetz, D, Maillard, D, Mancheron, H, Manolache, O, Marks-Brunel, A B, Marti, R, Martin, F, Martin, G, Marzloff, E, Mathurin, P, Mauillon, J, Maunoury, V, Maupas, J L, Mesnard, B, Metayer, P, Methari, L, Meurisse, B, Meurisse, F, Michaud, L, Mirmaran, X, Modaine, P, Monthe, A, Morel, L, Mortier, P E, Moulin, E, Mouterde, O, Mudry, J, Nachury, M, N’Guyen Khac, E, Notteghem, B, Ollevier, V, Ostyn, A, Ouraghi, A, Ouvry, D, Paillot, B, Panien-Claudot, N, Paoletti, C, Papazian, A, Parent, B, Pariente, B, Paris, J C, Patrier, P, Paupart, L, Pauwels, B, Pauwels, M, Petit, R, Piat, M, Piotte, S, Plane, C, Plouvier, B, Pollet, E, Pommelet, P, Pop, D, Pordes, C, Pouchain, G, Prades, P, Prevost, A, Prevost, J C, Quesnel, B, Queuniet, A M, Quinton, J F, Rabache, A, Rabelle, P, Raclot, G, Ratajczyk, S, Rault, D, Razemon, V, Reix, N, Revillon, M, Richez, C, Robinson, P, Rodriguez, J, Roger, J, Roux, J M, Rudelli, A, Saber, A, Savoye, G, Schlosseberg, P, Segrestin, M, Seguy, D, Serin, M, Seryer, A, Sevenet, F, Shekh, N, Silvie, J, Simon, V, Spyckerelle, C, Talbodec, N, Techy, A, Thelu, J L, Thevenin, A, Thiebault, H, Thomas, J, Thorel, J M, Tielman, G, Tode, M, Toisin, J, Tonnel, J, Touchais, J Y, Touze, Y, Tranvouez, J L, Triplet, C, Turck, D, Uhlen, S, Vaillant, E, Valmage, C, Vanco, D, Vandamme, H, Vanderbecq, E, Vander Eecken, E, Vandermolen, P, Vandevenne, P, Vandeville, L, Vandewalle, A, Vandewalle, C, Vaneslander, P, Vanhoove, J P, Vanrenterghem, A, Varlet, P, Vasies, I, Verbiese, G, Vernier-Massouille, G, Vermelle, P, Verne, C, Vezilier-Cocq, P, Vigneron, B, Vincendet, M, Viot, J, Voiment, Y M, Wacrenier, A, Waeghemaecker, L, Wallez, J Y, Wantiez, M, Wartel, F, Weber, J, Willocquet, J L, Wizla, N, Wolschies, E, Zalar, A, Zaouri, B, Zellweger, A, and Ziade, C

Published
2019
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30. Ulcerative proctitis is a frequent location of paediatric-onset UC and not a minor disease: a population-based study

Author

Hochart, A, Gower-Rousseau, C, Sarter, H, Fumery, M, Ley, D, Spyckerelle, C, Peyrin-Biroulet, L, Laberenne, J-E, Vasseur, F, Savoye, G, Turck, D, Andre, JM, Antonietti, M, Aouakli, A, Armand, A, Aroichane, I, Assi, F, Aubet, JP, Auxenfants, E, Ayafi-Ramelot, F, Azzouzi, K, Bankovski, D, Barbry, B, Bardoux, N, Baron, P, Baudet, A, Bazin, B, Bebahani, A, Becqwort, JP, Benet, V, Benali, H, Benguigui, C, Ben Soussan, E, Bental, A, Berkelmans, I, Bernet, J, Bernou, K, Bernou-Dron, C, Bertot, P, Bertiaux-Vandaële, N, Bertrand, V, Billoud, E, Biron, N, Bismuth, B, Bleuet, M, Blondel, F, Blondin, V, Bohon, P, Boniface, E, Bonnière, P, Bonvarlet, E, Bonvarlet, P, Boruchowicz, A, Bostvironnois, R, Boualit, M, Bouche, B, Boudaillez, C, Bourgeaux, C, Bourgeois, M, Bourguet, A, Bourienne, A, Branche, J, Bray, G, Brazier, F, Breban, P, Bridenne, M, Brihier, H, Brung-Lefebvre, V, Bulois, P, Burgiere, P, Butel, J, Canva, JY, Canva-Delcambre, V, Capron, JP, Cardot, F, Carpentier, P, Cartier, E, Cassar, JF, Cassagnou, M, Castex, JF, Catala, P, Cattan, S, Catteau, S, Caujolle, B, Cayron, G, Chandelier, C, Chantre, M, Charles, J, Charneau, T, Chavance-Thelu, M, Chirita, D, Choteau, A, Claerbout, JF, Clergue, PY, Coevoet, H, Cohen, G, Collet, R, Colombel, JF, Coopman, S, Corvisart, J, Cortot, A, Couttenier, F, Crinquette, JF, Crombe, V, Dadamessi, I, Dapvril, V, Davion, T, Dautreme, S, Debas, J, Degrave, N, Dehont, F, Delatre, C, Delcenserie, R, Delette, O, Delgrange, T, Delhoustal, L, Delmotte, JS, Demmane, S, Deregnaucourt, G, Descombes, P, Desechalliers, JP, Desmet, P, Desreumaux, P, Desseaux, G, Desurmont, P, Devienne, A, Devouge, E, Devred, M, Devroux, A, Dewailly, A, Dharancy, S, Di Fiore, A, Djeddi, D, Djedir, R, Dreher-Duwat, ML, Dubois, R, Dubuque, C, Ducatillon, P, Duclay, J, Ducrocq, B, Ducrot, F, Ducrotte, P, Dufilho, A, Duhamel, C, Dujardin, D, Dumant-Forest, C, Dupas, JL, Dupont, F, Duranton, Y, Duriez, A, El Achkar, K, El Farisi, M, Elie, C, Elie-Legrand, MC, Elkhaki, A, Eoche, M, Evrard, D, Evrard, JP, Fatome, A, Filoche, B, Finet, L, Flahaut, M, Flamme, C, Foissey, D, Fournier, P, Foutrein-Comes, MC, Foutrein, P, Fremond, D, Frere, T, Gallet, P, Gamblin, C, Ganga, S, Gerard, R, Geslin, G, Gheyssens, Y, Ghossini, N, Ghrib, S, Gilbert, T, Gillet, B, Godard, D, Godard, P, Godchaux, JM, Godchaux, R, Goegebeur, G, Goria, O, Gottrand, F, Gower, P, Grandmaison, B, Groux, M, Guedon, C, Guillard, JF, Guillem, L, Guillemot, F, Guimberd, D, Haddouche, B, Hakim, S, Hanon, D, Hautefeuille, V, Heckestweiller, P, Hecquet, G, Hedde, JP, Hellal, H, Henneresse, PE, Heyman, B, Heraud, M, Herve, S, Hochain, P, Houssin-Bailly, L, Houcke, P, Huguenin, B, Iobagiu, S, Ivanovic, A, Iwanicki-Caron, I, Janicki, E, Jarry, M, Jeu, J, Joly, JP, Jonas, C, Katherin, F, Kerleveo, A, Khachfe, A, Kiriakos, A, Kiriakos, J, Klein, O, Kohut, M, Kornhauser, R, Koutsomanis, D, Laffineur, G, Lagarde, M, Lalanne, A, Lannoy, P, Lapchin, J, Laprand, M, Laude, D, Leblanc, R, Lecieux, P, Leclerc, N, Le Couteulx, C, Ledent, J, Lefebvre, J, Lefiliatre, P, Legrand, C, Le Grix, A, Lelong, P, Leluyer, B, Lenaerts, C, Lepileur, L, Leplat, A, Lepoutre-Dujardin, E, Leroi, H, Leroy, MY, Lesage, JP, Lesage, X, Lesage, J, Lescanne-Darchis, I, Lescut, J, Lescut, D, Leurent, B, Levy, P, Lhermie, M, Lion, A, Lisambert, B, Loire, F, Louf, S, Louvet, A, Luciani, M, Lucidarme, D, Lugand, J, Macaigne, O, Maetz, D, Maillard, D, Mancheron, H, Manolache, O, Marks-Brunel, AB, Marti, R, Martin, F, Martin, G, Marzloff, E, Mathurin, P, Mauillon, J, Maunoury, V, Maupas, JL, Mesnard, B, Metayer, P, Methari, L, Meurisse, B, Meurisse, F, Michaud, L, Mirmaran, X, Modaine, P, Monthe, A, Morel, L, Mortier, PE, Moulin, E, Mouterde, O, Mudry, J, Nachury, M, NʼGuyen Khac, E, Notteghem, B, Ollevier, V, Ostyn, A, Ouraghi, A, Ouvry, D, Paillot, B, Panien-Claudot, N, Paoletti, C, Papazian, A, Parent, B, Pariente, B, Paris, JC, Patrier, P, Paupart, L, Pauwels, B, Pauwels, M, Petit, R, Piat, M, Piotte, S, Plane, C, Plouvier, B, Pollet, E, Pommelet, P, Pop, D, Pordes, C, Pouchain, G, Prades, P, Prevost, A, Prevost, JC, Quesnel, B, Queuniet, AM, Quinton, JF, Rabache, A, Rabelle, P, Raclot, G, Ratajczyk, S, Rault, D, Razemon, V, Reix, N, Revillon, M, Richez, C, Robinson, P, Rodriguez, J, Roger, J, Roux, JM, Rudelli, A, Saber, A, Schlosseberg, P, Segrestin, M, Seguy, D, Serin, M, Seryer, A, Sevenet, F, Shekh, N, Silvie, J, Simon, V, Talbodec, N, Techy, A, Thelu, JL, Thevenin, A, Thiebault, H, Thomas, J, Thorel, JM, Tielman, G, Tode, M, Toisin, J, Tonnel, J, Touchais, JY, Touze, Y, Tranvouez, JL, Triplet, C, Uhlen, S, Vaillant, E, Valmage, C, Vanco, D, Vandamme, H, Vanderbecq, E, Vander Eecken, E, Vandermolen, P, Vandevenne, P, Vandeville, L, Vandewalle, A, Vandewalle, C, Vaneslander, P, Vanhoove, JP, Vanrenterghem, A, Varlet, P, Vasies, I, Verbiese, G, Vernier-Massouille, G, Vermelle, P, Verne, C, Vezilier-Cocq, P, Vigneron, B, Vincendet, M, Viot, J, Voiment, YM, Wacrenier, A, Waeghemaecker, L, Wallez, JY, Wantiez, M, Wartel, F, Weber, J, Willocquet, JL, Wizla, N, Wolschies, E, Zalar, A, Zaouri, B, Zellweger, A, and Ziade, C

Published
2017
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32. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

Author

Hakkaart, C, Pearson, JF, Marquart, L, Dennis, J, Wiggins, GAR, Barnes, DR, Robinson, BA, Mace, PD, Aittomaki, K, Andrulis, IL, Arun, BK, Azzollini, J, Balmana, J, Barkardottir, RB, Belhadj, S, Berger, L, Blok, MJ, Boonen, SE, Borde, J, Bradbury, AR, Brunet, J, Buys, SS, Caligo, MA, Campbell, I, Chung, WK, Claes, KBM, Collonge-Rame, M-A, Cook, J, Cosgrove, C, Couch, FJ, Daly, MB, Dandiker, S, Davidson, R, de la Hoya, M, de Putter, R, Delnatte, C, Dhawan, M, Diez, O, Ding, YC, Domchek, SM, Donaldson, A, Eason, J, Easton, DF, Ehrencrona, H, Engel, C, Evans, DG, Faust, U, Feliubadalo, L, Fostira, F, Friedman, E, Frone, M, Frost, D, Garber, J, Gayther, SA, Gehrig, A, Gesta, P, Godwin, AK, Goldgar, DE, Greene, MH, Hahnen, E, Hake, CR, Hamann, U, Hansen, TVO, Hauke, J, Hentschel, J, Herold, N, Honisch, E, Hulick, PJ, Imyanitov, EN, Isaacs, C, Izatt, L, Izquierdo, A, Jakubowska, A, James, PA, Janavicius, R, John, EM, Joseph, V, Karlan, BY, Kemp, Z, Kirk, J, Konstantopoulou, I, Koudijs, M, Kwong, A, Laitman, Y, Lalloo, F, Lasset, C, Lautrup, C, Lazaro, C, Legrand, C, Leslie, G, Lesueur, F, Mai, PL, Manoukian, S, Mari, V, Martens, JWM, McGuffog, L, Mebirouk, N, Meindl, A, Miller, A, Montagna, M, Moserle, L, Mouret-Fourme, E, Musgrave, H, Nambot, S, Nathanson, KL, Neuhausen, SL, Nevanlinna, H, Yie, JNY, Nguyen-Dumont, T, Nikitina-Zake, L, Offit, K, Olah, E, Olopade, OI, Osorio, A, Ott, C-E, Park, SK, Parsons, MT, Pedersen, IS, Peixoto, A, Perez-Segura, P, Peterlongo, P, Pocza, T, Radice, P, Ramser, J, Rantala, J, Rodriguez, GC, Ronlund, K, Rosenberg, EH, Rossing, M, Schmutzler, RK, Shah, PD, Sharif, S, Sharma, P, Side, LE, Simard, J, Singer, CF, Snape, K, Steinemann, D, Stoppa-Lyonnet, D, Sutter, C, Tan, YY, Teixeira, MR, Teo, SH, Thomassen, M, Thull, DL, Tischkowitz, M, Toland, AE, Trainer, AH, Tripathi, V, Tung, N, van Engelen, K, van Rensburg, EJ, Vega, A, Viel, A, Walker, L, Weitzel, JN, Wevers, MR, Chenevix-Trench, G, Spurdle, AB, Antoniou, AC, Walker, LC, Hakkaart, C, Pearson, JF, Marquart, L, Dennis, J, Wiggins, GAR, Barnes, DR, Robinson, BA, Mace, PD, Aittomaki, K, Andrulis, IL, Arun, BK, Azzollini, J, Balmana, J, Barkardottir, RB, Belhadj, S, Berger, L, Blok, MJ, Boonen, SE, Borde, J, Bradbury, AR, Brunet, J, Buys, SS, Caligo, MA, Campbell, I, Chung, WK, Claes, KBM, Collonge-Rame, M-A, Cook, J, Cosgrove, C, Couch, FJ, Daly, MB, Dandiker, S, Davidson, R, de la Hoya, M, de Putter, R, Delnatte, C, Dhawan, M, Diez, O, Ding, YC, Domchek, SM, Donaldson, A, Eason, J, Easton, DF, Ehrencrona, H, Engel, C, Evans, DG, Faust, U, Feliubadalo, L, Fostira, F, Friedman, E, Frone, M, Frost, D, Garber, J, Gayther, SA, Gehrig, A, Gesta, P, Godwin, AK, Goldgar, DE, Greene, MH, Hahnen, E, Hake, CR, Hamann, U, Hansen, TVO, Hauke, J, Hentschel, J, Herold, N, Honisch, E, Hulick, PJ, Imyanitov, EN, Isaacs, C, Izatt, L, Izquierdo, A, Jakubowska, A, James, PA, Janavicius, R, John, EM, Joseph, V, Karlan, BY, Kemp, Z, Kirk, J, Konstantopoulou, I, Koudijs, M, Kwong, A, Laitman, Y, Lalloo, F, Lasset, C, Lautrup, C, Lazaro, C, Legrand, C, Leslie, G, Lesueur, F, Mai, PL, Manoukian, S, Mari, V, Martens, JWM, McGuffog, L, Mebirouk, N, Meindl, A, Miller, A, Montagna, M, Moserle, L, Mouret-Fourme, E, Musgrave, H, Nambot, S, Nathanson, KL, Neuhausen, SL, Nevanlinna, H, Yie, JNY, Nguyen-Dumont, T, Nikitina-Zake, L, Offit, K, Olah, E, Olopade, OI, Osorio, A, Ott, C-E, Park, SK, Parsons, MT, Pedersen, IS, Peixoto, A, Perez-Segura, P, Peterlongo, P, Pocza, T, Radice, P, Ramser, J, Rantala, J, Rodriguez, GC, Ronlund, K, Rosenberg, EH, Rossing, M, Schmutzler, RK, Shah, PD, Sharif, S, Sharma, P, Side, LE, Simard, J, Singer, CF, Snape, K, Steinemann, D, Stoppa-Lyonnet, D, Sutter, C, Tan, YY, Teixeira, MR, Teo, SH, Thomassen, M, Thull, DL, Tischkowitz, M, Toland, AE, Trainer, AH, Tripathi, V, Tung, N, van Engelen, K, van Rensburg, EJ, Vega, A, Viel, A, Walker, L, Weitzel, JN, Wevers, MR, Chenevix-Trench, G, Spurdle, AB, Antoniou, AC, and Walker, LC

Abstract

The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis of CNVs in 15,342 BRCA1 and 10,740 BRCA2 pathogenic variant carriers. We used these results to prioritise a candidate breast cancer risk-modifier gene for laboratory analysis and biological validation. Notably, the HR for deletions in BRCA1 suggested an elevated breast cancer risk estimate (hazard ratio (HR) = 1.21), 95% confidence interval (95% CI = 1.09-1.35) compared with non-CNV pathogenic variants. In contrast, deletions overlapping SULT1A1 suggested a decreased breast cancer risk (HR = 0.73, 95% CI 0.59-0.91) in BRCA1 pathogenic variant carriers. Functional analyses of SULT1A1 showed that reduced mRNA expression in pathogenic BRCA1 variant cells was associated with reduced cellular proliferation and reduced DNA damage after treatment with DNA damaging agents. These data provide evidence that deleterious variants in BRCA1 plus SULT1A1 deletions contribute to variable breast cancer risk in BRCA1 carriers.

Published
2022

46. The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

Author

Lakeman, I.M.M., Broek, A.J. van den, Vos, Janet R., Barnes, D.R., Adlard, J., Andrulis, I.L., Arason, A., Arnold, N., Arun, B.K., Balmaña, J., Barrowdale, D., Benitez, J., Borg, A., Caldés, T., Caligo, M.A., Chung, W.K., Claes, K.B.M., Collée, J.M., Couch, F.J., Daly, M.B., Dennis, J., Dhawan, M., Domchek, S.M., Eeles, R., Engel, C., Evans, D.G., Feliubadaló, L., Foretova, L., Friedman, E., Frost, D., Ganz, P.A., Garber, J., Gayther, S.A., Gerdes, A.M., Godwin, A.K., Goldgar, D.E., Hahnen, E., Hake, C.R., Hamann, U., Hogervorst, F.B., Hooning, M.J., Hopper, J.L., Hulick, P.J., Imyanitov, E.N., Isaacs, C., Izatt, L., Jakubowska, A., James, P.A., Janavicius, R., Jensen, U.B., Jiao, Y., John, E.M., Joseph, V., Karlan, B.Y., Kets, C.M., Konstantopoulou, I., Kwong, A., Legrand, C., Leslie, G., Lesueur, F., Loud, J.T., Lubiński, J., Manoukian, S., McGuffog, L., Miller, A., Gomes, D.M., Montagna, M., Mouret-Fourme, E., Nathanson, K.L., Neuhausen, S.L., Nevanlinna, H., Yie, J.N.Y., Olah, E., Olopade, O.I., Park, S.K., Parsons, M.T., Peterlongo, P., Piedmonte, M., Radice, P., Rantala, J., Rennert, G., Risch, H.A., Schmutzler, R.K., Sharma, P., Simard, J., Singer, C.F., Stadler, Z., Stoppa-Lyonnet, D., Sutter, C., Tan, Y.Y., Teixeira, M.R., Teo, S.H., Teulé, A., Thomassen, M., Thull, D.L., Tischkowitz, M., Toland, A.E., Tung, N., Rensburg, E.J. van, Vega, A., Robson, M., Schmidt, M.K., Lakeman, I.M.M., Broek, A.J. van den, Vos, Janet R., Barnes, D.R., Adlard, J., Andrulis, I.L., Arason, A., Arnold, N., Arun, B.K., Balmaña, J., Barrowdale, D., Benitez, J., Borg, A., Caldés, T., Caligo, M.A., Chung, W.K., Claes, K.B.M., Collée, J.M., Couch, F.J., Daly, M.B., Dennis, J., Dhawan, M., Domchek, S.M., Eeles, R., Engel, C., Evans, D.G., Feliubadaló, L., Foretova, L., Friedman, E., Frost, D., Ganz, P.A., Garber, J., Gayther, S.A., Gerdes, A.M., Godwin, A.K., Goldgar, D.E., Hahnen, E., Hake, C.R., Hamann, U., Hogervorst, F.B., Hooning, M.J., Hopper, J.L., Hulick, P.J., Imyanitov, E.N., Isaacs, C., Izatt, L., Jakubowska, A., James, P.A., Janavicius, R., Jensen, U.B., Jiao, Y., John, E.M., Joseph, V., Karlan, B.Y., Kets, C.M., Konstantopoulou, I., Kwong, A., Legrand, C., Leslie, G., Lesueur, F., Loud, J.T., Lubiński, J., Manoukian, S., McGuffog, L., Miller, A., Gomes, D.M., Montagna, M., Mouret-Fourme, E., Nathanson, K.L., Neuhausen, S.L., Nevanlinna, H., Yie, J.N.Y., Olah, E., Olopade, O.I., Park, S.K., Parsons, M.T., Peterlongo, P., Piedmonte, M., Radice, P., Rantala, J., Rennert, G., Risch, H.A., Schmutzler, R.K., Sharma, P., Simard, J., Singer, C.F., Stadler, Z., Stoppa-Lyonnet, D., Sutter, C., Tan, Y.Y., Teixeira, M.R., Teo, S.H., Teulé, A., Thomassen, M., Thull, D.L., Tischkowitz, M., Toland, A.E., Tung, N., Rensburg, E.J. van, Vega, A., Robson, M., and Schmidt, M.K.

Abstract

Contains fulltext : 244113.pdf (Publisher’s version ) (Open Access), PURPOSE: To evaluate the association between a previously published 313 variant-based breast cancer (BC) polygenic risk score (PRS(313)) and contralateral breast cancer (CBC) risk, in BRCA1 and BRCA2 pathogenic variant heterozygotes. METHODS: We included women of European ancestry with a prevalent first primary invasive BC (BRCA1 = 6,591 with 1,402 prevalent CBC cases; BRCA2 = 4,208 with 647 prevalent CBC cases) from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), a large international retrospective series. Cox regression analysis was performed to assess the association between overall and ER-specific PRS(313) and CBC risk. RESULTS: For BRCA1 heterozygotes the estrogen receptor (ER)-negative PRS(313) showed the largest association with CBC risk, hazard ratio (HR) per SD = 1.12, 95% confidence interval (CI) (1.06-1.18), C-index = 0.53; for BRCA2 heterozygotes, this was the ER-positive PRS(313), HR = 1.15, 95% CI (1.07-1.25), C-index = 0.57. Adjusting for family history, age at diagnosis, treatment, or pathological characteristics for the first BC did not change association effect sizes. For women developing first BC < age 40 years, the cumulative PRS(313) 5th and 95th percentile 10-year CBC risks were 22% and 32% for BRCA1 and 13% and 23% for BRCA2 heterozygotes, respectively. CONCLUSION: The PRS(313) can be used to refine individual CBC risks for BRCA1/2 heterozygotes of European ancestry, however the PRS(313) needs to be considered in the context of a multifactorial risk model to evaluate whether it might influence clinical decision-making.

Published
2021

47. The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

Author

Lakeman, IMM, van den Broek, AJ, Vos, JAM, Barnes, DR, Adlard, J, Andrulis, IL, Arason, A, Arnold, N, Arun, BK, Balmana, J, Barrowdale, D, Benitez, J, Borg, A, Caldes, T, Caligo, MA, Chung, WK, Claes, KBM, Collee, JM, Couch, FJ, Daly, MB, Dennis, J, Dhawan, M, Domchek, SM, Eeles, R, Engel, C, Evans, DG, Feliubadalo, L, Foretova, L, Friedman, E, Frost, D, Ganz, PA, Garber, J, Gayther, SA, Gerdes, A-M, Godwin, AK, Goldgar, DE, Hahnen, E, Hake, CR, Hamann, U, Hogervorst, FBL, Hooning, MJ, Hopper, JL, Hulick, PJ, Imyanitov, EN, Isaacs, C, Izatt, L, Jakubowska, A, James, PA, Janavicius, R, Jensen, UB, Jiao, Y, John, EM, Joseph, V, Karlan, BY, Kets, CM, Konstantopoulou, I, Kwong, A, Legrand, C, Leslie, G, Lesueur, F, Loud, JT, Lubinski, J, Manoukian, S, McGuffog, L, Miller, A, Gomes, DM, Montagna, M, Mouret-Fourme, E, Nathanson, KL, Neuhausen, SL, Nevanlinna, H, Yie, JNY, Olah, E, Olopade, OI, Park, SK, Parsons, MT, Peterlongo, P, Piedmonte, M, Radice, P, Rantala, J, Rennert, G, Risch, HA, Schmutzler, RK, Sharma, P, Simard, J, Singer, CF, Stadler, Z, Stoppa-Lyonnet, D, Sutter, C, Tan, YY, Teixeira, MR, Teo, SH, Teule, A, Thomassen, M, Thull, DL, Tischkowitz, M, Toland, AE, Tung, N, van Rensburg, EJ, Vega, A, Wappenschmidt, B, Devilee, P, van Asperen, CJ, Bernstein, JL, Offit, K, Easton, DF, Rookus, MA, Chenevix-Trench, G, Antoniou, AC, Robson, M, Schmidt, MK, Lakeman, IMM, van den Broek, AJ, Vos, JAM, Barnes, DR, Adlard, J, Andrulis, IL, Arason, A, Arnold, N, Arun, BK, Balmana, J, Barrowdale, D, Benitez, J, Borg, A, Caldes, T, Caligo, MA, Chung, WK, Claes, KBM, Collee, JM, Couch, FJ, Daly, MB, Dennis, J, Dhawan, M, Domchek, SM, Eeles, R, Engel, C, Evans, DG, Feliubadalo, L, Foretova, L, Friedman, E, Frost, D, Ganz, PA, Garber, J, Gayther, SA, Gerdes, A-M, Godwin, AK, Goldgar, DE, Hahnen, E, Hake, CR, Hamann, U, Hogervorst, FBL, Hooning, MJ, Hopper, JL, Hulick, PJ, Imyanitov, EN, Isaacs, C, Izatt, L, Jakubowska, A, James, PA, Janavicius, R, Jensen, UB, Jiao, Y, John, EM, Joseph, V, Karlan, BY, Kets, CM, Konstantopoulou, I, Kwong, A, Legrand, C, Leslie, G, Lesueur, F, Loud, JT, Lubinski, J, Manoukian, S, McGuffog, L, Miller, A, Gomes, DM, Montagna, M, Mouret-Fourme, E, Nathanson, KL, Neuhausen, SL, Nevanlinna, H, Yie, JNY, Olah, E, Olopade, OI, Park, SK, Parsons, MT, Peterlongo, P, Piedmonte, M, Radice, P, Rantala, J, Rennert, G, Risch, HA, Schmutzler, RK, Sharma, P, Simard, J, Singer, CF, Stadler, Z, Stoppa-Lyonnet, D, Sutter, C, Tan, YY, Teixeira, MR, Teo, SH, Teule, A, Thomassen, M, Thull, DL, Tischkowitz, M, Toland, AE, Tung, N, van Rensburg, EJ, Vega, A, Wappenschmidt, B, Devilee, P, van Asperen, CJ, Bernstein, JL, Offit, K, Easton, DF, Rookus, MA, Chenevix-Trench, G, Antoniou, AC, Robson, M, and Schmidt, MK

Abstract

PURPOSE: To evaluate the association between a previously published 313 variant-based breast cancer (BC) polygenic risk score (PRS313) and contralateral breast cancer (CBC) risk, in BRCA1 and BRCA2 pathogenic variant heterozygotes. METHODS: We included women of European ancestry with a prevalent first primary invasive BC (BRCA1 = 6,591 with 1,402 prevalent CBC cases; BRCA2 = 4,208 with 647 prevalent CBC cases) from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), a large international retrospective series. Cox regression analysis was performed to assess the association between overall and ER-specific PRS313 and CBC risk. RESULTS: For BRCA1 heterozygotes the estrogen receptor (ER)-negative PRS313 showed the largest association with CBC risk, hazard ratio (HR) per SD = 1.12, 95% confidence interval (CI) (1.06-1.18), C-index = 0.53; for BRCA2 heterozygotes, this was the ER-positive PRS313, HR = 1.15, 95% CI (1.07-1.25), C-index = 0.57. Adjusting for family history, age at diagnosis, treatment, or pathological characteristics for the first BC did not change association effect sizes. For women developing first BC < age 40 years, the cumulative PRS313 5th and 95th percentile 10-year CBC risks were 22% and 32% for BRCA1 and 13% and 23% for BRCA2 heterozygotes, respectively. CONCLUSION: The PRS313 can be used to refine individual CBC risks for BRCA1/2 heterozygotes of European ancestry, however the PRS313 needs to be considered in the context of a multifactorial risk model to evaluate whether it might influence clinical decision-making.

Published
2021

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