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  • 2022

    Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

    Barnes, D. R., Silvestri, V., Leslie, G., McGuffog, L., Dennis, J., Yang, X., Adlard, J., Agnarsson, B. A., Ahmed, M., Aittomäki, K., Andrulis, I. L., Arason, A., Arnold, N., Auber, B., Azzollini, J., Balmaña, J., Barkardottir, R. B., Barrowdale, D., Barwell, J., Belotti, M., & 145 othersBenitez, J., Berthet, P., Boonen, S. E., Borg, Å., Bozsik, A., Brady, A. F., Brennan, P., Brewer, C., Brunet, J., Bucalo, A., Buys, S. S., Caldés, T., Caligo, M. A., Campbell, I., Cassingham, H., Christensen, L. L., Cini, G., Claes, K. B. M., Cook, J., Coppa, A., Cortesi, L., Damante, G., Darder, E., Davidson, R., de la Hoya, M., De Leeneer, K., de Putter, R., Del Valle, J., Diez, O., Ding, Y. C., Domchek, S. M., Donaldson, A., Eason, J., Eeles, R., Engel, C., Evans, D. G., Feliubadaló, L., Fostira, F., Frone, M., Frost, D., Gallagher, D., Gehrig, A., Giraud, S., Glendon, G., Godwin, A. K., Goldgar, D. E., Greene, M. H., Gregory, H., Gross, E., Hahnen, E., Hamann, U., Hansen, T. V. O., Hanson, H., Hentschel, J., Horvath, J., Izatt, L., Izquierdo, A., James, P. A., Janavicius, R., Jensen, U. B., Johannsson, O. T., John, E. M., Kramer, G., Kroeldrup, L., Kruse, T. A., Lautrup, C., Lazaro, C., Lesueur, F., Lopez-Fernández, A., Mai, P. L., Manoukian, S., Matrai, Z., Matricardi, L., Maxwell, K. N., Mebirouk, N., Meindl, A., Montagna, M., Monteiro, A. N., Morrison, P. J., Muranen, T. A., Murray, A., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Nguyen-Dumont, T., Niederacher, D., Olah, E., Olopade, O. I., Palli, D., Parsons, M. T., Pedersen, I. S., Peissel, B., Perez-Segura, P., Peterlongo, P., Petersen, A. H., Pinto, P., Porteous, M. E., Pottinger, C., Pujana, M. A., Radice, P., Ramser, J., Rantala, J., Robson, M., Rogers, M. T., Rønlund, K., Rump, A., Sánchez de Abajo, A. M., Shah, P. D., Sharif, S., Side, L. E., Singer, C. F., Stadler, Z., Steele, L., Stoppa-Lyonnet, D., Sutter, C., Tan, Y. Y., Teixeira, M. R., Teulé, A., Thull, D. L., Tischkowitz, M., Toland, A. E., Tommasi, S., Toss, A., Trainer, A. H., Tripathi, V., Valentini, V., van Asperen, C. J., Venturelli, M., Viel, A., Vijai, J., Walker, L., Wang-Gohrke, S., Wappenschmidt, B., Whaite, A., Zanna, I., Offit, K., Thomassen, M., Couch, F. J., Schmutzler, R. K., Simard, J., Easton, D. F., Chenevix-Trench, G., Antoniou, A. C., Ottini, L. & GEMO Study Collaborators, 11 Jan 2022, In: Journal of the National Cancer Institute. 114, 1, p. 109-122 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

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  • Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

    Li, S., Silvestri, V., Leslie, G., Rebbeck, T. R., Neuhausen, S. L., Hopper, J. L., Nielsen, H. R., Lee, A., Yang, X., McGuffog, L., Parsons, M. T., Andrulis, I. L., Arnold, N., Belotti, M., Borg, Å., Buecher, B., Buys, S. S., Caputo, S. M., Chung, W. K., Colas, C., & 82 othersColonna, S. V., Cook, J., Daly, M. B., de la Hoya, M., de Pauw, A., Delhomelle, H., Eason, J., Engel, C., Evans, D. G., Faust, U., Fehm, T. N., Fostira, F., Fountzilas, G., Frone, M., Garcia-Barberan, V., Garre, P., Gauthier-Villars, M., Gehrig, A., Glendon, G., Goldgar, D. E., Golmard, L., Greene, M. H., Hahnen, E., Hamann, U., Hanson, H., Hassan, T., Hentschel, J., Horvath, J., Izatt, L., Janavicius, R., Jiao, Y., John, E. M., Karlan, B. Y., Kim, S-W., Konstantopoulou, I., Kwong, A., Laugé, A., Lee, J. W., Lesueur, F., Mebirouk, N., Meindl, A., Mouret-Fourme, E., Musgrave, H., Ngeow Yuen Yie, J., Niederacher, D., Park, S. K., Pedersen, I. S., Ramser, J., Ramus, S. J., Rantala, J., Rashid, M. U., Reichl, F., Ritter, J., Rump, A., Santamariña, M., Saule, C., Schmidt, G., Schmutzler, R. K., Senter, L., Shariff, S., Singer, C. F., Southey, M. C., Stoppa-Lyonnet, D., Sutter, C., Tan, Y., Teo, S. H., Terry, M. B., Thomassen, M., Tischkowitz, M., Toland, A. E., Torres, D., Vega, A., Wagner, S. A., Wang-Gohrke, S., Wappenschmidt, B., Weber, B. H. F., Yannoukakos, D., Spurdle, A. B., Easton, D. F., Chenevix-Trench, G., Ottini, L. & Antoniou, A. C., 10 May 2022, In: Journal of Clinical Oncology. 40, 14, p. 1529-1541 13 p.

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  • Clinical, splicing and functional analysis to classify BRCA2 exon 3 variants: application of a points-based ACMG/AMP approach

    Thomassen, M., Mesman, R. L. S., Hansen, T. V. O., Menendez, M., Rossing, M., Esteban-Sánchez, A., Tudini, E., Törngren, T., Parsons, M. T., Pedersen, I. S., Teo, S. H., Kruse, T. A., Møller, P., Borg, Å., Jensen, U. B., Christensen, L. L., Singer, C. F., Muhr, D., Santamarina, M., Brandao, R., & 30 othersAndresen, B. S., Feng, B-J., Canson, D., Richardson, M. E., Karam, R., Pesaran, T., LaDuca, H., Conner, B. R., Abualkheir, N., Hoang, L., Calléja, F. M. G. R., Andrews, L., James, P. A., Bunyan, D., Hamblett, A., Radice, P., Goldgar, D. E., Walker, L. C., Engel, C., Claes, K. B. M., Macháčková, E., Baralle, D., Viel, A., Wappenschmidt, B., Lazaro, C., Vega, A., ENIGMA consortium, Vreeswijk, M. P. G., de la Hoya, M. & Spurdle, A. B., 18 Aug 2022, (E-pub ahead of print) In: Human Mutation.

    Research output: Contribution to journalJournal articleResearchpeer-review

    Open Access
  • Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

    Hakkaart, C., Pearson, J. F., Marquart, L., Dennis, J., Wiggins, G. A. R., Barnes, D. R., Robinson, B. A., Mace, P. D., Aittomäki, K., Andrulis, I. L., Arun, B. K., Azzollini, J., Balmaña, J., Barkardottir, R. B., Belhadj, S., Berger, L., Blok, M. J., Boonen, S. E., Borde, J., Bradbury, A. R., & 142 othersBrunet, J., Buys, S. S., Caligo, M. A., Campbell, I., Chung, W. K., Claes, K. B. M., Collonge-Rame, M-A., Cook, J., Cosgrove, C., Couch, F. J., Daly, M. B., Dandiker, S., Davidson, R., de la Hoya, M., de Putter, R., Delnatte, C., Dhawan, M., Diez, O., Ding, Y. C., Domchek, S. M., Donaldson, A., Eason, J., Easton, D. F., Ehrencrona, H., Engel, C., Evans, D. G., Faust, U., Feliubadaló, L., Fostira, F., Friedman, E., Frone, M., Frost, D., Garber, J., Gayther, S. A., Gehrig, A., Gesta, P., Godwin, A. K., Goldgar, D. E., Greene, M. H., Hahnen, E., Hake, C. R., Hamann, U., Hansen, T. V. O., Hauke, J., Hentschel, J., Herold, N., Honisch, E., Hulick, P. J., Imyanitov, E. N., Isaacs, C., Izatt, L., Izquierdo, A., Jakubowska, A., James, P. A., Janavicius, R., John, E. M., Joseph, V., Karlan, B. Y., 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, P. L., Manoukian, S., Mari, V., Martens, J. W. M., McGuffog, L., Mebirouk, N., Meindl, A., Miller, A., Montagna, M., Moserle, L., Mouret-Fourme, E., Musgrave, H., Nambot, S., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Yie, J. N. Y., Nguyen-Dumont, T., Nikitina-Zake, L., Offit, K., Olah, E., Olopade, O. I., Osorio, A., Ott, C-E., Park, S. K., Parsons, M. T., Pedersen, I. S., Peixoto, A., Perez-Segura, P., Peterlongo, P., Pocza, T., Radice, P., Ramser, J., Rantala, J., Rodriguez, G. C., Rønlund, K., Rosenberg, E. H., Rossing, M., Schmutzler, R. K., Shah, P. D., Sharif, S., Sharma, P., Side, L. E., Simard, J., Singer, C. F., Snape, K., Steinemann, D., Stoppa-Lyonnet, D., Sutter, C., Tan, Y. Y., Teixeira, M. R., Teo, S. H., Thomassen, M., Thull, D. L., Tischkowitz, M., Toland, A. E., Trainer, A. H., Tripathi, V., Tung, N., van Engelen, K., van Rensburg, E. J., Vega, A., Viel, A., Walker, L., Weitzel, J. N., Wevers, M. R., Chenevix-Trench, G., Spurdle, A. B., Antoniou, A. C., Walker, L. C. & GEMO Study Collaborators, 6 Oct 2022, In: Communications Biology. 5, 1, p. 1061 15 p., 1061.

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  • Dysfibrinogenemia-Potential Impact of Genotype on Thrombosis or Bleeding

    Bor, M. V., Feddersen, S., Pedersen, I. S., Sidelmann, J. J. & Kristensen, S. R., 2022, In: Seminars in Thrombosis and Hemostasis. 48, 2, p. 161-173 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

    4 Citations (Scopus)
  • Effects of long computer gaming sessions on lipoprotein levels in healthy male adults

    Krarup, K. B., Krarup, H. B., Pedersen, I. S., Mørk, M., Kristensen, S. R., Handberg, A., Wimmer, R. & Nguyen, H. T. T., Aug 2022, In: Atherosclerosis. 355, p. 84 1 p.

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

  • LAN party and risk of life expectancy, cardiovascular disease, and obesity in young healthy male adults: an experimental study

    Krarup, K. B., Krarup, H. B., Pedersen, I. S., Mørk, M., Kristensen, S. R., Handberg, A., Wimmer, R. & Nguyen, H. T. T., Jun 2022.

    Research output: Contribution to conference without publisher/journalConference abstract for conferenceResearchpeer-review

  • Open Access
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    1 Citation (Scopus)
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  • Polygenic risk modeling for prediction of epithelial ovarian cancer risk

    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., & 239 othersBenitez, 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, Mar 2022, In: European Journal of Human Genetics. 30, 3, p. 349-362 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

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    3 Citations (Scopus)
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  • Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants

    Li, H., Engel, C., de la Hoya, M., Peterlongo, P., Yannoukakos, D., Livraghi, L., Radice, P., Thomassen, M., Hansen, T. V. O., Gerdes, A-M., Nielsen, H. R., Caputo, S. M., Zambelli, A., Borg, A., Solano, A., Thomas, A., Parsons, M. T., Antoniou, A. C., Leslie, G., Yang, X., & 43 othersChenevix-Trench, G., Caldes, T., Kwong, A., Pedersen, I. S., Lautrup, C. K., John, E. M., Terry, M. B., Hopper, J. L., Southey, M. C., Andrulis, I. L., Tischkowitz, M., Janavicius, R., Boonen, S. E., Kroeldrup, L., Varesco, L., Hamann, U., Vega, A., Palmero, E. I., Garber, J., Montagna, M., Van Asperen, C. J., Foretova, L., Greene, M. H., Selkirk, T., Moller, P., Toland, A. E., Domchek, S. M., James, P. A., Thorne, H., Eccles, D. M., Nielsen, S. M., Manoukian, S., Pasini, B., Caligo, M. A., Lazaro, C., Kirk, J., Wappenschmidt, B., Spurdle, A. B., Couch, F. J., Schmutzler, R., Goldgar, D. E., ENIGMA consortium & CIMBA Consortium, Jan 2022, In: Genetics in Medicine. 24, 1, p. 119-129 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

    4 Citations (Scopus)
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  • 2021

    A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

    Coignard, J., Lush, M., Beesley, J., O’Mara, T. A., Dennis, J., Tyrer, J. P., Barnes, D. R., McGuffog, L., Leslie, G., Bolla, M. K., Adank, M. A., Agata, S., Ahearn, T., Aittomäki, K., Andrulis, I. L., Anton-Culver, H., Arndt, V., Arnold, N., Aronson, K. J., Arun, B. K., & 370 othersAugustinsson, A., Azzollini, J., Barrowdale, D., Baynes, C., Becher, H., Bermisheva, M., Bernstein, L., Białkowska, K., Blomqvist, C., Bojesen, S. E., Bonanni, B., Borg, A., Brauch, H., Brenner, H., Burwinkel, B., Buys, S. S., Caldés, T., Caligo, M. A., Campa, D., Carter, B. D., Castelao, J. E., Chang-Claude, J., Chanock, S. J., Chung, W. K., Claes, K. B. M., Clarke, C., Bertrand, O., Caputo, S., Dupré, A., Le Mentec, M., Belotti, M., Birot, A. M., Buecher, B., Fourme, E., Gauthier-Villars, M., Golmard, L., Houdayer, C., Moncoutier, V., de Pauw, A., Saule, C., Sinilnikova, O., Mazoyer, S., Damiola, F., Barjhoux, L., Verny-Pierre, C., Léone, M., Boutry-Kryza, N., Calender, A., Giraud, S., Caron, O., Guillaud-Bataille, M., Bressac-de-Paillerets, B., Bignon, Y. J., Uhrhammer, N., Lasset, C., Bonadona, V., Berthet, P., Vaur, D., Castera, L., Noguchi, T., Popovici, C., Sobol, H., Bourdon, V., Noguchi, T., Remenieras, A., Noguès, C., Coupier, I., Pujol, P., Dumont, A., Révillion, F., Adenis, C., Muller, D., Barouk-Simonet, E., Bonnet, F., Bubien, V., Sevenet, N., Longy, M., Toulas, C., Guimbaud, R., Gladieff, L., Feillel, V., Leroux, D., Dreyfus, H., Rebischung, C., Peysselon, M., Coron, F., Faivre, L., Baurand, A., Jacquot, C., Bertolone, G., Lizard, S., Prieur, F., Lebrun, M., Kientz, C., Ferrer, S. F., Mari, V., Vénat-Bouvet, L., Delnatte, C., Bézieau, S., Mortemousque, I., Coulet, F., Colas, C., Soubrier, F., Warcoin, M., Sokolowska, J., Bronner, M., Collonge-Rame, M. A., Damette, A., Gesta, P., Lallaoui, H., Chiesa, J., Molina-Gomes, D., Ingster, O., Gregory, H., Miedzybrodzka, Z., Morrison, P. J., Ong, K. R., Donaldson, A., Rogers, M. T., Kennedy, M. J., Porteous, M. E., Brewer, C., Davidson, R., Izatt, L., Brady, A., Barwell, J., Adlard, J., Foo, C., Lalloo, F., Side, L. E., Eason, J., Henderson, A., Walker, L., Eeles, R. A., Cook, J., Snape, K., Eccles, D. M., Murray, A., McCann, E., Collée, J. M., Conroy, D. M., Czene, K., Daly, M. B., Devilee, P., Diez, O., Ding, Y. C., Domchek, S. M., Dörk, T., dos-Santos-Silva, I., Dunning, A. M., Dwek, M., Eliassen, A. H., Engel, C., Eriksson, M., Evans, D. G., Fasching, P. A., Flyger, H., Fostira, F., Friedman, E., Fritschi, L., Frost, D., Gago-Dominguez, M., Gapstur, S. M., Garber, J., Garcia-Barberan, V., García-Closas, M., García-Sáenz, J. A., Gaudet, M. M., Gayther, S. A., Gehrig, A., Georgoulias, V., Giles, G. G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Greene, M. H., Guénel, P., Haeberle, L., Hahnen, E., Haiman, C. A., Håkansson, N., Hall, P., Hamann, U., Harrington, P. A., Hart, S. N., He, W., Hogervorst, F. B. L., Hollestelle, A., Hopper, J. L., Horcasitas, D. J., Hulick, P. J., Hunter, D. J., Imyanitov, E. N., Fox, S., Campbell, I., Spurdle, A., Webb, P., de Fazio, A., Tassell, M., Kirk, J., Lindeman, G., Price, M., Southey, M., Milne, R. L., Deb, S., Bowtell, D., van der Hout, A. H., van den Ouweland, A. M. W., Mensenkamp, A. R., van Deurzen, C. H. M., Kets, C. M., Seynaeve, C., van Asperen, C. J., Aalfs, C. M., Gómez Garcia, E. B., van Leeuwen, F. E., de Bock, G. H., Meijers-Heijboer, H. E. J., Obdeijn, I. M., Collée, J. M., Gille, J. J. P., Oosterwijk, J. C., Wijnen, J. T., van der Kolk, L. E., Hooning, M. J., Ausems, M. G. E. M., Mourits, M. J. E., Blok, M. J., Rookus, M. A., Adank, M. A., van der Luijt, R. B., van Cronenburg, T. C. T. E. F., van der Pol, C. C., Russell, N. S., Siesling, S., Overbeek, L., Wijnands, R., de Lange, J. L., Clarke, C., Graham, D., Sachchithananthan, M., Marsh, D., Scott, R., Baxter, R., Yip, D., Carpenter, J., Davis, A., Pathmanathan, N., Simpson, P., Jager, A., Jakubowska, A., James, P. A., Jensen, U. B., John, E. M., Jones, M. E., Kaaks, R., Kapoor, P. M., Karlan, B. Y., Keeman, R., Khusnutdinova, E., Kiiski, J. I., Ko, Y. D., Kosma, V. M., Kraft, P., Kurian, A. W., Laitman, Y., Lambrechts, D., Le Marchand, L., Lester, J., Lesueur, F., Lindstrom, T., Lopez-Fernández, A., Loud, J. T., Luccarini, C., Mannermaa, A., Manoukian, S., Margolin, S., Martens, J. W. M., Mebirouk, N., Meindl, A., Miller, A., Montagna, M., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Nielsen, F. C., O’Brien, K. M., Olopade, O. I., Olson, J. E., Olsson, H., Osorio, A., Ottini, L., Park-Simon, T. W., Parsons, M. T., Pedersen, I. S., Peshkin, B., Peterlongo, P., Peto, J., Pharoah, P. D. P., Phillips, K. A., Polley, E. C., Poppe, B., Presneau, N., Pujana, M. A., Punie, K., Radice, P., Rantala, J., Rashid, M. U., Rennert, G., Rennert, H. S., Robson, M., Romero, A., Rossing, M., Saloustros, E., Sandler, D. P., Santella, R., Scheuner, M. T., Schmidt, M. K., Schmidt, G., Scott, C., Sharma, P., Soucy, P., Spinelli, J. J., Steinsnyder, Z., Stone, J., Stoppa-Lyonnet, D., Swerdlow, A., Tamimi, R. M., Tapper, W. J., Taylor, J. A., Terry, M. B., Teulé, A., Thull, D. L., Tischkowitz, M., Toland, A. E., Torres, D., Trainer, A. H., Truong, T., Tung, N., Vachon, C. M., Vega, A., Vijai, J., Wang, Q., Wappenschmidt, B., Weinberg, C. R., Weitzel, J. N., Wendt, C., Wolk, A., Yadav, S., Yang, X. R., Yannoukakos, D., Zheng, W., Ziogas, A., Zorn, K. K., Park, S. K., Thomassen, M., Offit, K., Schmutzler, R. K., Couch, F. J., Simard, J., Chenevix-Trench, G., Easton, D. F., Andrieu, N., Antoniou, A. C., GEMO Study Collaborators, EMBRACE Collaborators, kConFab Investigators, HEBON Investigators & ABCTB Investigators, Feb 2021, In: Nature Communications. 12, 1, 22 p., 1078.

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  • A family-based study to identify genetic biomarkers of fibromyalgia: consideration of patients' subgroups

    Gerra, M. C., González-Villar, A., Arendt-Nielsen, L., Søkilde Pedersen, I., Triñanes, Y., Donnini, C., Manfredini, M., Walther, D., Moeller, G. L., Pidal-Miranda, M., Romero-Yuste, S., Arias-Gómez, M. & Carrillo-de-la-Peña, M. T., 24 Jun 2021, In: Clinical and Experimental Rheumatology. 39, Suppl 130(3), p. 144-152 9 p.

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    4 Citations (Scopus)
  • Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing

    Toft, C. L. F., Ingerslev, H. J., Kesmodel, U. S., Hatt, L., Singh, R., Ravn, K., Nicolaisen, B. H., Christensen, I. B., Kølvraa, M., Jeppesen, L. D., Schelde, P., Vogel, I., Uldbjerg, N., Farlie, R., Sommer, S., Østergård, M. L. V., Jensen, A. N., Mogensen, H., Kjartansdóttir, K. R., Degn, B., & 3 othersOkkels, H., Ernst, A. & Pedersen, I. S., Aug 2021, In: Journal of Assisted Reproduction and Genetics. 38, 8, p. 1959-1970 12 p.

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  • Cell-free DNA promoter hypermethylation as a diagnostic marker for pancreatic ductal adenocarcinoma – An external validation study

    Henriksen, S. D., Stubbe, B. E., Madsen, P. H., Johansen, J. S., Jensen, B. V., Hansen, C. P., Johansen, M. N., Pedersen, I. S., Krarup, H. & Thorlacius-Ussing, O., Sep 2021, In: Pancreatology. 21, 6, p. 1081-1091 11 p.

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  • DNA methylation changes in fibromyalgia suggest the role of the immune‐inflammatory response and central sensitization

    Gerra, M. C., Carnevali, D., Ossola, P., González‐villar, A., Pedersen, I. S., Triñanes, Y., Donnini, C., Manfredini, M., Arendt‐nielsen, L. & Carrillo‐de‐la‐peña, M. T., 1 Nov 2021, In: Journal of Clinical Medicine . 10, 21, 15 p., 4992.

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  • DNA methylation changes in genes involved in inflammation and depression in fibromyalgia: A pilot study

    Gerra, M. C., Carnevali, D., Pedersen, I. S., Donnini, C., Manfredini, M., González-Villar, A., Triñanes, Y., Pidal-Miranda, M., Arendt-Nielsen, L. & Carrillo-De-La-Peña, M. T., Feb 2021, In: Scandinavian Journal of Pain. 21, 2, p. 372-383 12 p.

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  • Præimplantationsgenetisk testning

    Translated title of the contribution: Preimplantation genetic testingLøssl, K., Bentzen, J. G., Petersen, M. R., Roos, L. K. S., Kjartansdóttir, K. R., Grøndahl, M. L., Troest, B., Toft, C. L. F., Pedersen, I. S., Diemer, T. & Ingerslev, H. J., 29 Nov 2021, In: Ugeskrift for Laeger. 183, 8 p., V04210378.

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Prevalence and type distribution of human papillomavirus infections in Danish patients diagnosed with vulvar squamous cell tumors and precursors

    Brusen Villadsen, A., Bundgaard-Nielsen, C., Ambühl, L., Tang Svendsen, M., Søkilde Pedersen, I., Stæhr Hansen, E., Baandrup, U., Blaakær, J. & Sørensen, S., Aug 2021, In: Gynecologic Oncology Reports. 37, 6 p., 100828.

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  • Scrotal Paget’s disease associated with metastatic carcinoma with apocrine features and ERBB2-amplification/HER2 overexpression responding well to weekly paclitaxel combined with trastuzumab and pertuzumab. A case report

    Nowicka-Matus, K., Salkus, G., Pedersen, I. S., Sønderkær, M., Ernst, A., Takacs-Szabó, Z. & Ladekarl, M., 2021, Danske Kræftforskningsdage: Abstract Book. p. 152 133

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  • The mutational profile of immune surveillance genes in diagnostic and refractory/relapsed DLBCLs

    Nesic, M., Sønderkær, M., Brøndum, R. F., El-Galaly, T. C., Pedersen, I. S., Bøgsted, M. & Dybkær, K., 18 Jul 2021, In: BMC Cancer. 21, 1, 12 p., 829.

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  • Open Access
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  • 2020

    Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

    Patel, V. L., Busch, E. L., Friebel, T. M., Cronin, A., Leslie, G., McGuffog, L., Adlard, J., Agata, S., Agnarsson, B. A., Ahmed, M., Aittomäki, K., Alducci, E., Andrulis, I. L., Arason, A., Arnold, N., Artioli, G., Arver, B., Auber, B., Azzollini, J., Balmaña, J., & 243 othersBarkardottir, R. B., Barnes, D. R., Barroso, A., Barrowdale, D., Belotti, M., Benitez, J., Bertelsen, B., Blok, M. J., Bodrogi, I., Bonadona, V., Bonanni, B., Bondavalli, D., Boonen, S. E., Borde, J., Borg, A., Bradbury, A. R., Brady, A., Brewer, C., Brunet, J., Buecher, B., Buys, S. S., Cabezas-Camarero, S., Caldés, T., Caliebe, A., Caligo, M. A., Calvello, M., Campbell, I. G., Carnevali, I., Carrasco, E., Chan, T. L., Chu, A. T. W., Chung, W. K., Claes, K. B. M., Collaborators, G. S., Collaborators, E., Cook, J., Cortesi, L., Couch, F. J., Daly, M. B., Damante, G., Darder, E., Davidson, R., de la Hoya, M., Della Puppa, L., Dennis, J., Díez, O., Ding, Y. C., Ditsch, N., Domchek, S. M., Donaldson, A., Dworniczak, B., Easton, D. F., Eccles, D. M., Eeles, R. A., Ehrencrona, H., Ejlertsen, B., Engel, C., Evans, D. G., Faivre, L., Faust, U., Feliubadaló, L., Foretova, L., Fostira, F., Fountzilas, G., Frost, D., García-Barberán, V., Garre, P., Gauthier-Villars, M., Géczi, L., Gehrig, A., Gerdes, A-M., Gesta, P., Giannini, G., Glendon, G., Godwin, A. K., Goldgar, D. E., Greene, M. H., Gutierrez-Barrera, A. M., Hahnen, E., Hamann, U., Hauke, J., Herold, N., Hogervorst, F. B. L., Honisch, E., Hopper, J. L., Hulick, P. J., Investigators, KC., Investigators, H., Izatt, L., Jager, A., James, P., Janavicius, R., Jensen, U. B., Jensen, T. D., Johannsson, O. T., John, E. M., Joseph, V., Kang, E., Kast, K., Kiiski, J. I., Kim, S-W., Kim, Z., Ko, K-P., Konstantopoulou, I., Kramer, G., Krogh, L., Kruse, T. A., Kwong, A., Larsen, M., Lasset, C., Lautrup, C., Lázaro, C., Lee, J., Lee, J. W., Lee, M. H., Lemke, J., Lesueur, F., Liljegren, A., Lindblom, A., Llovet, P., Lopez-Fernández, A., Lopez-Perolio, I., Lorca, V., Loud, J. T., Ma, E. S. K., Mai, P. L., Manoukian, S., Mari, V., Martin, L., Matricardi, L., Mebirouk, N., Medici, V., Meijers-Heijboer, H. E. J., Meindl, A., Mensenkamp, A. R., Miller, C., Molina Gomes, D., Montagna, M., Mooij, T. M., Moserle, L., Mouret-Fourme, E., Mulligan, A. M., Nathanson, K. L., Navratilova, M., Nevanlinna, H., Niederacher, D., Cilius Nielsen, F. C., Nikitina-Zake, L., Offit, K., Olah, E., Olopade, O. I., Ong, K-R., Osorio, A., Ott, C-E., Palli, D., Park, S. K., Parsons, M. T., Pedersen, I. S., Peissel, B., Peixoto, A., Pérez-Segura, P., Peterlongo, P., Høgh Petersen, A., Porteous, M. E., Pujana, M. A., Radice, P., Ramser, J., Rantala, J., Rashid, M. U., Rhiem, K., Rizzolo, P., Robson, M. E., Rookus, M. A., Rossing, C. M., Ruddy, K. J., Santos, C., Saule, C., Scarpitta, R., Schmutzler, R. K., Schuster, H., Senter, L., Seynaeve, C. M., Shah, P. D., Sharma, P., Shin, V. Y., Silvestri, V., Simard, J., Singer, C. F., Skytte, A-B., Snape, K., Solano, A. R., Soucy, P., Southey, M. C., Spurdle, A. B., Steele, L., Steinemann, D., Stoppa-Lyonnet, D., Stradella, A., Sunde, L., Sutter, C., Tan, Y. Y., Teixeira, M. R., Teo, S. H., Thomassen, M., Tibiletti, M. G., Tischkowitz, M., Tognazzo, S., Toland, A. E., Tommasi, S., Torres, D., Toss, A., Trainer, A. H., Tung, N., van Asperen, C. J., van der Baan, F. H., van der Kolk, L. E., van der Luijt, R. B., van Hest, L. P., Varesco, L., Varon-Mateeva, R., Viel, A., Vierstraete, J., Villa, R., von Wachenfeldt, A., Wagner, P., Wang-Gohrke, S., Wappenschmidt, B., Weitzel, J. N., Wieme, G., Yadav, S., Yannoukakos, D., Yoon, S-Y., Zanzottera, C., Zorn, K. K., D'Amico, A. V., Freedman, M. L., Pomerantz, M. M., Chenevix-Trench, G., Antoniou, A. C., Neuhausen, S. L., Ottini, L., Nielsen, H. R. & Rebbeck, T. R., 1 Feb 2020, In: Cancer Research. 80, 3, p. 624-638 15 p.

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    27 Citations (Scopus)
  • Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer

    Muranen, T. A., Khan, S., Fagerholm, R., Aittomäki, K., Cunningham, J. M., Dennis, J., Leslie, G., McGuffog, L., Parsons, M. T., Simard, J., Slager, S., Soucy, P., Easton, D. F., Tischkowitz, M., Spurdle, A. B., kConFab Investigators, Schmutzler, R. K., Wappenschmidt, B., Hahnen, E., Hooning, M. J., & 24 othersHEBON Investigators, Singer, C. F., Wagner, G., Thomassen, M., Pedersen, I. S., Domchek, S. M., Nathanson, K. L., Lazaro, C., Rossing, C. M., Andrulis, I. L., Teixeira, M. R., James, P., Garber, J., Weitzel, J. N., SWE-BRCA Investigators, Jakubowska, A., Yannoukakos, D., John, E. M., Southey, M. C., Schmidt, M. K., Antoniou, A. C., Chenevix-Trench, G., Blomqvist, C. & Nevanlinna, H., 1 Dec 2020, In: npj Breast Cancer. 6, 1, 44.

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  • Open Access
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  • Cell-based non-invasive prenatal testing (cbNIPT): an alternative to chorionic villus sampling to confirm diagnosis of unaffected fetuses following preimplantation genetic testing for monogenic disorders (PGT-M)

    Toft, C. L. F., Ingerslev, H. J., Kesmodel, U. S., Hatt, L., Singh, R., Ravn, K., Hestbek, B., Christensen, I. B., Koelvraa, M., Jeppesen, L. D., Schelde, P., Vogel, I., Uldbjerg, N., Farlie, R., Sommer, S., Ostergaard, M. L. V., Jensen, A. N., Mogensen, H., Degn, B., Okkels, H., & 2 othersErnst, A. & Pedersen, I. S., 1 Jul 2020, In: Human Reproduction. 35, suppl. 1, p. 79 1 p., O-182.

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

  • Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

    Silvestri, V., Leslie, G., Barnes, D. R., and the CIMBA Group & Pedersen, I. S., 1 Aug 2020, In: JAMA Oncology. 6, 8, p. 1218-1230 13 p.

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    29 Citations (Scopus)
  • Development of a Precision Medicine Workflow in Hematological Cancers, Aalborg University Hospital, Denmark

    Bødker, J. S., Sønderkær, M., Vesteghem, C., Schmitz, A., Brøndum, R. F., Sommer, M., Rytter, A. S., Nielsen, M. M., Madsen, J., Jensen, P., Pedersen, I. S., Grubach, L., Severinsen, M. T., Roug, A. S., El-Galaly, T. C., Dybkær, K. & Bøgsted, M., Feb 2020, In: Cancers. 12, 2, 23 p., 312.

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  • DNA methylation biomarkers in peripheral blood of patients with head and neck squamous cell carcinomas. A systematic review

    Danstrup, C. S., Marcussen, M., Pedersen, I. S., Jacobsen, H., Dybkær, K. & Gaihede, M., 17 Dec 2020, In: PLOS ONE. 15, 12, e0244101.

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  • Epigenetic Regulation of Ferroportin in Primary Cultures of the Rat Blood-Brain Barrier

    Helgudottir, S. S., Routhe, L. J., Burkhart, A., Jønsson, K., Pedersen, I. S., Lichota, J. & Moos, T., Aug 2020, In: Molecular Neurobiology. 57, 8, p. 3526-3539 14 p.

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  • Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

    Fachal, L., Aschard, H., Beesley, J., Barnes, D. R., Allen, J., Kar, S., Pooley, K. A., Dennis, J., Michailidou, K., Turman, C., Soucy, P., Lemaçon, A., Lush, M., Tyrer, J. P., Ghoussaini, M., Moradi Marjaneh, M., Jiang, X., Agata, S., Aittomäki, K., Alonso, M. R., & 277 othersAndrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Arason, A., Arndt, V., Aronson, K. J., Arun, B. K., Auber, B., Auer, P. L., Azzollini, J., Balmaña, J., Barkardottir, R. B., Barrowdale, D., Beeghly-Fadiel, A., Benitez, J., Bermisheva, M., Białkowska, K., Blanco, A. M., Blomqvist, C., Blot, W., Bogdanova, N. V., Bojesen, S. E., Bolla, M. K., Bonanni, B., Borg, A., Bosse, K., Brauch, H., Brenner, H., Briceno, I., Brock, I. W., Brooks-Wilson, A., Brüning, T., Burwinkel, B., Buys, S. S., Cai, Q., Caldés, T., Caligo, M. A., Camp, N. J., Campbell, I., Canzian, F., Carroll, J. S., Carter, B. D., Castelao, J. E., Chiquette, J., Christiansen, H., Chung, W. K., Claes, K. B. M., Clarke, C., Mari, V., Berthet, P., Castera, L., Vaur, D., Lallaoui, H., Bignon, Y-J., Uhrhammer, N., Bonadona, V., Lasset, C., Révillion, F., Vennin, P., Muller, D., Gomes, D. M., Ingster, O., Coupier, I., Pujol, P., Collonge-Rame, M-A., Mortemousque, I., Bera, O., Rose, M., Baurand, A., Bertolone, G., Faivre, L., Dreyfus, H., Leroux, D., Venat-Bouvet, L., Bézieau, S., Delnatte, C., Chiesa, J., Gilbert-Dussardier, B., Gesta, P., Prieur, F. P., Bronner, M., Sokolowska, J., Coulet, F., Boutry-Kryza, N., Calender, A., Giraud, S., Leone, M., Fert-Ferrer, S., Stoppa-Lyonnet, D., Jiao, Y., Lesueur, F. L., Mebirouk, N., Barouk-Simonet, E., Bubien, V., Longy, M., Sevenet, N., Gladieff, L., Toulas, C., Reimineras, A., Sobol, H., Paillerets, B. B., Cabaret, O., Caron, O., Guillaud-Bataille, M., Rouleau, E., Belotti, M., Buecher, B., Caputo, S., Colas, C., Pauw, A. D., Fourme, E., Gauthier-Villars, M., Golmard, L., Moncoutier, V., Saule, C., Donaldson, A., Murray, A., Brady, A., Brewer, C., Pottinger, C., Miller, C., Gallagher, D., Gregory, H., Cook, J., Eason, J., Adlard, J., Barwell, J., Ong, K-R., Snape, K., Walker, L., Izatt, L., Side, L., Tischkowitz, M., Rogers, M. T., Porteous, M. E., Ahmed, M., Morrison, P. J., Brennan, P., Eeles, R., Davidson, R., Collée, J. M., Cornelissen, S., Couch, F. J., Cox, A., Cross, S. S., Cybulski, C., Czene, K., Daly, M. B., de la Hoya, M., Devilee, P., Diez, O., Ding, Y. C., Dite, G. S., Domchek, S. M., Dörk, T., dos-Santos-Silva, I., Droit, A., Dubois, S., Dumont, M., Duran, M., Durcan, L., Dwek, M., Eccles, D. M., Engel, C., Eriksson, M., Evans, D. G., Fasching, P. A., Fletcher, O., Floris, G., Flyger, H., Foretova, L., Foulkes, W. D., Friedman, E., Fritschi, L., Frost, D., Gabrielson, M., Gago-Dominguez, M., Gambino, G., Ganz, P. A., Gapstur, S. M., Garber, J., García-Sáenz, J. A., Gaudet, M. M., Georgoulias, V., Giles, G., Glendon, G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Tibiletti, M. G., Greene, M. H., Grip, M., Gronwald, J., Grundy, A., Guénel, P., Hahnen, E., Haiman, C. A., Håkansson, N., Hall, P., Hamann, U., Harrington, P. A., Hartikainen, J. M., Hartman, M., He, W., Healey, C. S., Heemskerk-Gerritsen, B. A. M., Heyworth, J., Hillemanns, P., Hogervorst, F. B. L., Hollestelle, A., Hooning, M. J., Hopper, J. L., Howell, A., Huang, G., Hulick, P. J., Imyanitov, E. N., Sexton, A., Christian, A., Trainer, A., Spigelman, A., Fellows, A., Shelling, A., Fazio, A. D., Blackburn, A., Crook, A., Meiser, B., Patterson, B., Clarke, C., Saunders, C., Hunt, C., Scott, C., Amor, D., Marsh, D., Edkins, E., Salisbury, E., Haan, E., Neidermayr, E., Macrea, F., Farshid, G., Lindeman, G., Trench, G., Mann, G., Giles, G., Gill, G., Thorne, H., Hickie, I., Winship, I., Flanagan, J., Kollias, J., Visvader, J., Stone, J., Taylor, J., Burke, J., Saunus, J., Forbes, J., Hopper, J., Kirk, J., French, J., Tucker, K., Wu, K., Phillips, K., Lipton, L., Andrews, L., Lobb, L., Walker, L., Kentwell, M., Spurdle, M., Cummings, M., Gleeson, M., Harris, M., Jenkins, M., Young, M. A., Delatycki, M., Wallis, M., Pedersen, I. S. & Dunning, A. M., 7 Jan 2020, In: Nature Genetics. 52, 1, p. 56-73 18 p.

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    65 Citations (Scopus)
  • Mutational landscape of immune surveillance genes in diffuse large B-cell lymphoma

    Nesic, M., El-Galaly, T. C., Bøgsted, M., Pedersen, I. S. & Dybkær, K., 2020, In: Expert Review of Hematology. 13, 6, p. 655-668 14 p.

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    2 Citations (Scopus)
  • Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

    Barnes, D. R., Rookus, M. A., McGuffog, L., Leslie, G., Mooij, T. M., Dennis, J., Mavaddat, N., Adlard, J., Ahmed, M., Aittomäki, K., Andrieu, N., Andrulis, I. L., Arnold, N., Arun, B. K., Azzollini, J., Balmaña, J., Barkardottir, R. B., Barrowdale, D., Benitez, J., Berthet, P., & 30 othersBiałkowska, K., Blanco, A. M., Blok, M. J., Bonanni, B., Boonen, S. E., Borg, Å., Bozsik, A., Bradbury, A. R., Brennan, P., Brewer, C., Brunet, J., Buys, S. S., Caldés, T., Caligo, M. A., Campbell, I., Christensen, L. L., Chung, W. K., Claes, K. B. M., Colas, C., Collonge-Rame, M-A., Cook, J., Daly, M. B., Davidson, R., de la Hoya, M., de Putter, R., Delnatte, C., Devilee, P., Diez, O., Ding, Y. C. & Pedersen, I. S., Oct 2020, In: Genetics in Medicine. 22, 10, p. 1653-1666 14 p.

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  • Use of genetic testing for hypolactasia trait in the North Denmark Region

    Mørk, M., Andersen, S. L., Pedersen, I. S., Ernst, A., Lykkeboe, S. & Krarup, H. B., 1 Sep 2020, In: Scandinavian Journal of Gastroenterology. 55, 9, p. 1012-1018 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

    1 Citation (Scopus)
  • 2019

    Early experiences with screening for aneuploidy in preimplantation genetic testing for inherited disorders

    Diemer, T., Toft, C. L. F., Hnida, C., Degn, B., Okkels, H., Ernst, A., Ingerslev, H. J. & Pedersen, I. S., 1 Oct 2019, In: European Journal of Human Genetics. 27, Suppl. 2, p. 1198-1199 2 p., P01.57A.

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

  • Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

    Ferreira, M. A., Gamazon, E. R., Al-Ejeh, F., Aittomäki, K., Andrulis, I. L., Anton-Culver, H., Arason, A., Arndt, V., Aronson, K. J., Arun, B. K., Asseryanis, E., Azzollini, J., Balmaña, J., Barnes, D. R., Barrowdale, D., Beckmann, M. W., Behrens, S., Benitez, J., Bermisheva, M., Białkowska, K., & 196 othersBlomqvist, C., Bogdanova, N. V., Bojesen, S. E., Bolla, M. K., Borg, A., Brauch, H., Brenner, H., Broeks, A., Burwinkel, B., Caldés, T., Caligo, M. A., Campa, D., Campbell, I., Canzian, F., Carter, J., Carter, B. D., Castelao, J. E., Chang-Claude, J., Chanock, S. J., Christiansen, H., Chung, W. K., Claes, K. B. M., Clarke, C. L., GC-HBOC Study Collaborators, GEMO Study Collaborators, EMBRACE Collaborators, Couch, F. J., Cox, A., Cross, S. S., Czene, K., Daly, M. B., de la Hoya, M., Dennis, J., Devilee, P., Diez, O., Dörk, T., Dunning, A. M., Dwek, M., Eccles, D. M., Ejlertsen, B., Ellberg, C., Engel, C., Eriksson, M., Fasching, P. A., Fletcher, O., Flyger, H., Friedman, E., Frost, D., Gabrielson, M., Gago-Dominguez, M., Ganz, P. A., Gapstur, S. M., Garber, J., García-Closas, M., García-Sáenz, J. A., Gaudet, M. M., Giles, G. G., Glendon, G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Greene, M. H., Gronwald, J., Guénel, P., Haiman, C. A., Hall, P., Hamann, U., He, W., Heyworth, J., Hogervorst, F. B. L., Hollestelle, A., Hoover, R. N., Hopper, J. L., Hulick, P. J., Humphreys, K., Imyanitov, E. N., HEBON Investigators, BCFR Investigators, ABCTB Investigators, Isaacs, C., Jakimovska, M., Jakubowska, A., James, P. A., Janavicius, R., Jankowitz, R. C., John, E. M., Johnson, N., Joseph, V., Karlan, B. Y., Khusnutdinova, E., Kiiski, J. I., Ko, Y-D., Jones, M. E., Konstantopoulou, I., Kristensen, V. N., Laitman, Y., Lambrechts, D., Lazaro, C., Leslie, G., Lester, J., Lesueur, F., Lindström, S., Long, J., Loud, J. T., Lubiński, J., Makalic, E., Mannermaa, A., Manoochehri, M., Margolin, S., Maurer, T., Mavroudis, D., McGuffog, L., Meindl, A., Menon, U., Michailidou, K., Miller, A., Montagna, M., Moreno, F., Moserle, L., Mulligan, A. M., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Nevelsteen, I., Nielsen, F. C., Nikitina-Zake, L., Nussbaum, R. L., Offit, K., Olah, E., Olopade, O. I., Olsson, H., Osorio, A., Papp, J., Park-Simon, T-W., Parsons, M. T., Pedersen, I. S., Peixoto, A., Peterlongo, P., Pharoah, P. D. P., Plaseska-Karanfilska, D., Poppe, B., Presneau, N., Radice, P., Rantala, J., Rennert, G., Risch, H., Saloustros, E., Sanden, K., Sawyer, E. J., Schmidt, M. K., Schmutzler, R. K., Sharma, P., Shu, X-O., Simard, J., Singer, C. F., Soucy, P., Southey, M. C., Spinelli, J. J., Spurdle, A. B., Stone, J., Swerdlow, A. J., Tapper, W. J., Taylor, J. A., Teixeira, M. R., Terry, M. B., Teulé, A., Thomassen, M., Thöne, K., Thull, D. L., Tischkowitz, M., Toland, A. E., Torres, D., Truong, T., Tung, N., Vachon, C. M., van Asperen, C. J., van den Ouweland, A. M. W., van Rensburg, E. J., Vega, A., Viel, A., Wang, Q., Wappenschmidt, B., Weitzel, J. N., Wendt, C., Winqvist, R., Yang, X. R., Yannoukakos, D., Ziogas, A., Kraft, P., Antoniou, A. C., Zheng, W., Easton, D. F., Milne, R. L., Beesley, J. & Chenevix-Trench, G., 15 Apr 2019, In: Nature Communications. 10, 1, 1741.

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  • Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

    Parsons, M. T., Tudini, E., Li, H., Hahnen, E., Wappenschmidt, B., Feliubadaló, L., Aalfs, C. M., Agata, S., Aittomäki, K., Alducci, E., Alonso-Cerezo, M. C., Arnold, N., Auber, B., Austin, R., Azzollini, J., Balmaña, J., Barbieri, E., Bartram, C. R., Blanco, A., Blümcke, B., & 197 othersBonache, S., Bonanni, B., Borg, Å., Bortesi, B., Brunet, J., Bruzzone, C., Bucksch, K., Cagnoli, G., Caldés, T., Caliebe, A., Caligo, M. A., Calvello, M., Capone, G. L., Caputo, S. M., Carnevali, I., Carrasco, E., Caux-Moncoutier, V., Cavalli, P., Cini, G., Clarke, E. M., Concolino, P., Cops, E. J., Cortesi, L., Couch, F. J., Darder, E., de la Hoya, M., Dean, M., Debatin, I., del Valle, J., Delnatte, C., Derive, N., Diez, O., Ditsch, N., Domchek, S. M., Dutrannoy, V., Eccles, D. M., Ehrencrona, H., Enders, U., Evans, D. G., Faust, U., Felbor, U., Feroce, I., Fine, M., Galvao, H. C. R., Gambino, G., Gehrig, A., Gensini, F., Gerdes, A-M., Germani, A., Giesecke, J., Gismondi, V., Gómez, C., Gómez Garcia, E. B., González, S., Grau, E., Grill, S., Gross, E., Guerrieri-Gonzaga, A., Guillaud-Bataille, M., Gutiérrez-Enríquez, S., Haaf, T., Hackmann, K., Hansen, T. V. O., Harris, M., Hauke, J., Heinrich, T., Hellebrand, H., Herold, K. N., Honisch, E., Horvath, J., Houdayer, C., Hübbel, V., Iglesias, S., Izquierdo, A., James, P. A., Janssen, L. A. M., Jeschke, U., Kaulfuß, S., Keupp, K., Kiechle, M., Kölbl, A., Krieger, S., Kruse, T. A., Kvist, A., Lalloo, F., Larsen, M., Lattimore, V. L., Lautrup, C., Ledig, S., Leinert, E., Lewis, A. L., Lim, J., Loeffler, M., López-Fernández, A., Lucci-Cordisco, E., Maass, N., Manoukian, S., Marabelli, M., Matricardi, L., Meindl, A., Michelli, R. D., Moghadasi, S., Moles-Fernández, A., Montagna, M., Montalban, G., Monteiro, A. N., Montes, E., Mori, L., Moserle, L., Müller, C. R., Mundhenke, C., Naldi, N., Nathanson, K. L., Navarro, M., Nevanlinna, H., Nichols, C. B., Niederacher, D., Nielsen, H. R., Ong, K., Pachter, N., Palmero, E. I., Papi, L., Pedersen, I. S., Peissel, B., Pérez-Segura, P., Pfeifer, K., Pineda, M., Pohl-Rescigno, E., Poplawski, N. K., Porfirio, B., Quante, A. S., Ramser, J., Rei, R. M., Revillion, F., Rhiem, K., Riboli, B., Ritter, J., Rivera, D., Rofes, P., Rump, A., Salinas, M., Sánchez de Abajo, A. M., Schmidt, G., Schoenwiese, U., Seggewiß, J., Solanes, A., Steinemann, D., Stiller, M., Stoppa-Lyonnet, D., Sullivan, K. J., Susman, R., Sutter, C., Tavtigian, S. V., Teo, S. H., Teulé, A., Thomassen, M., Tibiletti, M. G., Tognazzo, S., Toland, A. E., Tornero, E., Törngren, T., Torres-Esquius, S., Toss, A., Trainer, A. H., van Asperen, C. J., van Mackelenbergh, M. T., Varesco, L., Vargas-Parra, G., Varon, R., Vega, A., Velasco, Á., Vesper, A-S., Viel, A., Vreeswijk, M. P. G., Wagner, S. A., Waha, A., Walker, L. C., Walters, R. J., Wang-Gohrke, S., Weber, B. H. F., Weichert, W., Wieland, K., Wiesmüller, L., Witzel, I., Wöckel, A., Woodward, E. R., Zachariae, S., Zampiga, V., Zeder-Göß, C., KConFab Investigators, Lázaro, C., De Nicolo, A., Radice, P., Engel, C., Schmutzler, R. K., Goldgar, D. E. & Spurdle, A. B., Sep 2019, In: Human Mutation. 40, 9, p. 1557-1578 22 p.

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  • Mitochondrial Disease Caused by a Novel Homozygous Mutation (Gly106del) in the SCO1 Gene

    Brix, N., Jensen, J. M., Pedersen, I. S., Ernst, A., Frost, S., Bogaard, P., Petersen, M. B. & Bender, L., Oct 2019, In: Neonatology. 116, 3, p. 290–294 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

    5 Citations (Scopus)
  • Når genomisk medicin bliver personlig

    Nielsen, I. K., Krarup, H. B. & Pedersen, I. S., 1 Apr 2019, In: Ugeskrift for Laeger. 181, 7A, p. 688-693 6 p., V11180780.

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Præimplantationsgenetisk testning for aneuploidi

    Translated title of the contribution: Preimplantation genetic testing for aneuploidyHolmqvist, V., Roos, L. K. S., Kjartansdottir, K. R., Dunø, M., Hnida, C., Pedersen, I. S., Ernst, A., Toft, C. L. F., Diemer, T., Ingerslev, H. J., Pinborg, A. & Løssl, K., 13 May 2019, In: Ugeskrift for Laeger. 181, 20, 4 p., V12180849.

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    2 Citations (Scopus)
  • Single-Base Resolution Analysis of DNA Methylation in Fibromyalgia Women Compared with Their Healthy Sisters

    Gerra, M. C., Pedersen, I. S., Carnevali, D., González-Villar, A., Triñanes, Y., Pidal-Miranda, M., Arendt-Nielsen, L. & Carrillo-de-la-Peña, M. T., 2019, In: Clinical and Experimental Rheumatology. 37, 1, Suppl. 116, p. S130 O-4.

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

  • Single-Base Resolution Analysis of DNA Methylation in Fibromyalgia Women Compared with Their Healthy Sisters

    Gerra, M. C., Pedersen, I. S., Carnevali, D., González-Villar, A., Triñanes, Y., Pidal-Miranda, M., Arendt-Nielsen, L. & Carrillo-de-la-Peña, M. T., Apr 2019, In: Scandinavian Journal of Pain. 19, Suppl. 1, p. S3

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

  • Targeted single base resolution analysis of DNA methylation in fibromyalgia women compared with their healthy sisters

    Gerra, M. C., Pedersen, I. S., Carnevali, D., Manfredini, M., Donnini, C., González-Villar, A., Triñanes, Y., Pidal-Miranda, M., Arendt-Nielsen, L. & Carrillo-de-la-Peña, M. T., 2019.

    Research output: Contribution to conference without publisher/journalConference abstract for conferenceResearchpeer-review

  • 24 Citations (Scopus)
  • 2018

    A Danish national effort of BRCA1/2 variant classification

    Pedersen, I. S., Schmidt, A. Y., Bertelsen, B., Ernst, A., Andersen, C. L. T., Kruse, T., Rossing, M. & Thomassen, M., 2018, In: Acta Oncologica. 57, 1, p. 159-162 4 p.

    Research output: Contribution to journalLetterpeer-review

    3 Citations (Scopus)
  • Cell-free DNA promoter hypermethylation in plasma as biomarkers for pancreatic adenocarcinoma

    Henriksen, S. D., Madsen, P. H., Larsen, A. C., Berg Johansen, M., Drewes, A., Pedersen, I. S., Krarup, H. & Thorlacius-Ussing, O., 2018, Danske Kræftforskningsdage: Abstract Book. p. 98 #90

    Research output: Contribution to book/anthology/report/conference proceedingConference abstract in proceedingResearchpeer-review

  • Clinical and molecular characterization of BRCA-associated breast cancer: results from the DBCG

    Soenderstrup, I. M. H., Laenkholm, A. V., Jensen, M. B., Eriksen, J. O., Gerdes, A. M., Hansen, T. V. O., Kruse, T. A., Larsen, M. J., Pedersen, I. S., Rossing, M., Thomassen, M. & Ejlertsen, B., 2018, In: Acta Oncologica. 57, 1, p. 95-101 7 p.

    Research output: Contribution to journalConference article in JournalResearchpeer-review

    14 Citations (Scopus)
  • Differential effect of surgical manipulation on gene expression in normal breast tissue and breast tumor tissue

    Pedersen, I. S., Thomassen, M., Tan, Q., Kruse, T., Thorlacius-Ussing, O., Garne, J. P. & Krarup, H. B., 16 Nov 2018, In: Molecular Medicine. 24, 1, p. 1-8 8 p., 57.

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  • Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer

    Caputo, S. M., Léone, M., Damiola, F., Ehlen, A., Carreira, A., Gaidrat, P., Martins, A., Brandão, R. D., Peixoto, A., Vega, A., Houdayer, C., Delnatte, C., Bronner, M., Muller, D., Castera, L., Guillaud-Bataille, M., Pedersen, I. S., Uhrhammer, N., Demontety, S., Tubeuf, H., & 16 othersCastelain, G., French COVAR group collaborators, Jensen, U. B., Petitalot, A., Krieger, S., Lefol, C., Moncoutier, V., Boutry-Kryza, N., Nielsen, H. R., Sinilnikova, O., Stoppa-Lyonnet, D., Spurdle, A. B., Teixeira, M. R., Coulet, F., Thomassen, M. & Rouleau, E., 1 Apr 2018, In: Oncotarget. 9, 25, p. 17334-17348 15 p.

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