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The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2019
  2. Published

    Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT

    GenoMEL Study Group, Aug 2019, In : Journal of the American Academy of Dermatology. 81, 2, p. 386-394 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    Exploring the hereditary background of renal cancer in Denmark

    Christensen, M. B., Wadt, K., Jensen, U. B., Lautrup, C. K., Bojesen, A., Krogh, L. N., Overeem Hansen, T. V. & Gerdes, A-M., 29 Apr 2019, In : PLoS One. 14, 4, p. e0215725

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Published

    Genomisk medicin til præimplantations-, 
præ- og postnatal diagnostik

    Gerdes, A-M. A., Risom, L., Kjærgaard, S. & Østergaard, E., 1 Apr 2019, In : Ugeskrift for Laeger. 181, 7A

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    Toward mechanistic models for genotype-phenotype correlations in phenylketonuria using protein stability calculations

    Scheller, R., Stein, A., Nielsen, S. V., Marin, F. I., Gerdes, A-M., Di Marco, M., Papaleo, E., Lindorff-Larsen, K. & Hartmann-Petersen, R., Apr 2019, In : Human Mutation. 40, 4, p. 444-457 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published

    Subtypes in BRCA-mutated breast cancer

    Sønderstrup, I., Jensen, M. B., Ejlertsen, B., Eriksen, J. O., Gerdes, A. M., Kruse, T. A., Larsen, M. J., Thomassen, M. & Lænkholm, A. V., Feb 2019, In : Human Pathology. 84, p. 192-201 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. Published
  8. Published

    Evaluation of tumor-infiltrating lymphocytes and association with prognosis in BRCA-mutated breast cancer

    Sønderstrup, I. M. H., Jensen, M. B., Ejlertsen, B., Eriksen, J. O., Gerdes, A. M., Kruse, T. A., Larsen, M. J., Thomassen, M. & Laenkholm, A. V., 2019, In : Acta oncologica (Stockholm, Sweden). 58, 3, p. 363-370 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. 2018
  10. Published

    The Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With BRCA1 or BRCA2 Mutations

    EMBRACE, GENEPSO, BCFR, HEBON, kConFab and IBCCS, Dec 2018, In : JNCI cancer spectrum.. 2, 4, p. pky078

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. Published

    Pediatric cancer families' participation in whole-genome sequencing research in Denmark: Parent perspectives

    Byrjalsen, A., Stoltze, U., Wadt, K., Hjalgrim, L. L., Gerdes, A-M., Schmiegelow, K. & Wahlberg, A., Nov 2018, In : European Journal of Cancer Care. 27, 6, p. e12877

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published

    En familie med nedarvet DICER1-mutation

    Altaraihi, M., Pedersen, J., Rossing, M., Gerdes, A-M. & Wadt, K., 18 Jun 2018, In : Ugeskrift for Laeger. 180, 24, p. V01180063

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. Published

    Kræftdisponerende mutationer er hyppige hos børn og unge med kræft

    Stoltze, U. K., Byrjalsen, A., Hjalgrim, L. L., Wahlberg, A., Gupta, R., Gerdes, A-M., Wadt, K. & Schmiegelow, K., 23 Apr 2018, In : Ugeskrift for Laeger. 180, 17, p. V07170566

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. Published

    Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study

    EMBRACE, GENEPSO, BCFR, HEBON, kConFab, and IBCCS, Apr 2018, In : JNCI cancer spectrum.. 2, 2, p. pky023

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. Published

    Is DBCG abreast of new developments?

    Offersen, B. V., Ejlertsen, B., Balslev, E., Flyger, H., Gerdes, A-M., Hansen, M. K., Hølmich, L. R., Jensen, M-B., Kristensen, B., Laenkholm, A-V., Mouridsen, H. T., Nielsen, M. H., Overgaard, J., Tuxen, M., Vejborg, I. & Christiansen, P., Jan 2018, In : Acta oncologica (Stockholm, Sweden). 57, 1, p. 1-2 2 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. Published

    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 (Stockholm, Sweden). 57, 1, p. 95-101

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. Published

    Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark

    Stoltze, U., Skytte, A-B., Roed, H., Hasle, H., Ejlertsen, B., Overeem Hansen, T. V., Schmiegelow, K., Gerdes, A-M. & Wadt, K., 2018, In : P L o S One. 13, 1, p. e0190050

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. Published

    Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

    Rebbeck, T. R., Friebel, T. M., Friedman, E., Hamann, U., Huo, D., Kwong, A., Olah, E., Olopade, O. I., Solano, A. R., Teo, S-H., Thomassen, M., Weitzel, J. N., Chan, T. L., Couch, F. J., Goldgar, D. E., Kruse, T. A., Palmero, E. I., Park, S. K., Torres, D., van Rensburg, E. J., McGuffog, L., Parsons, M. T., Leslie, G., Aalfs, C. M., Abugattas, J., Adlard, J., Agata, S., Aittomäki, K., Andrews, L., Andrulis, I. L., Arason, A., Arnold, N., Arun, B. K., Asseryanis, E., Auerbach, L., Azzollini, J., Balmaña, J., Barile, M., Barkardottir, R. B., Barrowdale, D., Benitez, J., Berger, A., Berger, R., Blanco, A. M., Blazer, K. R., Blok, M. J., Ejlertsen, B., Gerdes, A-M., Nielsen, F. C., Schmidt, A. Y. & EMBRACE, 2018, In : Human Mutation. 39, 5, p. 593-620

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. Published

    The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

    Moghadasi, S., Meeks, H. D., Vreeswijk, M. P., Janssen, L. A., Borg, Å., Ehrencrona, H., Paulsson-Karlsson, Y., Wappenschmidt, B., Engel, C., Gehrig, A., Arnold, N., Hansen, T. V. O., Thomassen, M., Jensen, U. B., Kruse, T. A., Ejlertsen, B., Gerdes, A-M., Pedersen, I. S., Caputo, S. M., Couch, F., Hallberg, E. J., van den Ouweland, A. M., Collée, M. J., Teugels, E., Adank, M. A., van der Luijt, R. B., Mensenkamp, A. R., Oosterwijk, J. C., Blok, M. J., Janin, N., Claes, K. B., Tucker, K., Viassolo, V., Toland, A. E., Eccles, D. E., Devilee, P., Van Asperen, C. J., Spurdle, A. B., Goldgar, D. E. & García, E. G., 2018, In : Journal of Medical Genetics. 55, 1, p. 15-20

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. 2017
  21. Published

    Blocking protein quality control to counter hereditary cancers

    Kampmeyer, C., Nielsen, S. V., Clausen, L., Stein, A., Gerdes, A-M., Lindorff-Larsen, K. & Hartmann-Petersen, R., Dec 2017, In : Genes Chromosomes and Cancer. 56, 12, p. 823-831 9 p.

    Research output: Contribution to journalReviewResearchpeer-review

  22. Published

    Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families

    Taylor, N. J., Mitra, N., Goldstein, A. M., Tucker, M. A., Avril, M-F., Azizi, E., Bergman, W., Bishop, D. T., Bressac-de Paillerets, B., Bruno, W., Calista, D., Cannon-Albright, L. A., Cuellar, F., Cust, A. E., Demenais, F., Elder, D. E., Gerdes, A-M., Ghiorzo, P., Grazziotin, T. C., Hansson, J., Harland, M., Hayward, N. K., Hocevar, M., Höiom, V., Ingvar, C., Landi, M. T., Landman, G., Larre-Borges, A., Leachman, S. A., Mann, G. J., Nagore, E., Olsson, H., Palmer, J. M., Perić, B., Pjanova, D., Pritchard, A., Puig, S., van der Stoep, N., Wadt, K. A. W., Whitaker, L., Yang, X. R., Newton Bishop, J. A., Gruis, N. A., Kanetsky, P. A. & GenoMEL Study Group, Dec 2017, In : The Journal of investigative dermatology. 137, 12, p. 2606-2612 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. Published

    Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

    Milne, R. L., Kuchenbaecker, K. B., Michailidou, K., Beesley, J., Kar, S., Lindström, S., Hui, S., Lemaçon, A., Soucy, P., Dennis, J., Jiang, X., Rostamianfar, A., Finucane, H., Bolla, M. K., McGuffog, L., Wang, Q., Aalfs, C. M., Adams, M., Adlard, J., Agata, S., Ahmed, S., Ahsan, H., Aittomäki, K., Al-Ejeh, F., Allen, J., Ambrosone, C. B., Amos, C. I., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Arndt, V., Arnold, N., Aronson, K. J., Auber, B., Auer, P. L., Ausems, M. G. E. M., Azzollini, J., Bacot, F., Balmaña, J., Barile, M., Barjhoux, L., Barkardottir, R. B., Bojesen, S. E., Ejlertsen, B., Flyger, H., Gerdes, A-M., Hansen, T. V. O., Lænkholm, A-V., Nielsen, S. F., Nordestgaard, B. G. & ABCTB Investigators, Dec 2017, In : Nature Genetics. 49, 12, p. 1767-1778 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  24. Published

    Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation

    Rossing, M., Albrechtsen, A., Skytte, A-B., Jensen, U. B., Ousager, L. B., Gerdes, A-M., Nielsen, F. C. & Hansen, T. VO., 13 Oct 2017, In : Human Genetics. 62, 2, p. 151–157

    Research output: Contribution to journalJournal articleResearchpeer-review

  25. Published

    Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

    Studygroup,Thomas van Overeem Hansen, Anne-Marie Gerdes, members), 1 Jul 2017, In : Journal of the National Cancer Institute. 109, 7, p. djw302

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. Published

    Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers

    Kuchenbaecker, K. B., Hopper, J. L., Barnes, D. R., Phillips, K-A., Mooij, T. M., Roos-Blom, M-J., Jervis, S., van Leeuwen, F. E., Milne, R. L., Andrieu, N., Goldgar, D. E., Terry, M. B., Rookus, M. A., Easton, D. F., Antoniou, A. C., BRCA1 and BRCA2 Cohort Consortium, McGuffog, L., Evans, D. G., Barrowdale, D., Frost, D., Adlard, J., Ong, K-R., Izatt, L., Tischkowitz, M., Eeles, R., Davidson, R., Hodgson, S., Ellis, S., Nogues, C., Lasset, C., Stoppa-Lyonnet, D., Fricker, J-P., Faivre, L., Berthet, P., Hooning, M. J., van der Kolk, L. E., Kets, C. M., Adank, M. A., John, E. M., Chung, W. K., Andrulis, I. L., Southey, M., Daly, M. B., Buys, S. S., Osorio, A., Engel, C., Kast, K., Schmutzler, R. K., Caldes, T., Jakubowska, A., Simard, J., Friedlander, M. L., McLachlan, S-A., Machackova, E., Foretova, L., Tan, Y. Y., Singer, C. F., Olah, E., Gerdes, A-M., Arver, B. & Olsson, H., 20 Jun 2017, In : JAMA - Journal of the American Medical Association. 317, 23, p. 2402-2416 15 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. Published
  28. Published

    Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

    Phelan, C. M., Kuchenbaecker, K. B., Tyrer, J. P., Kar, S. P., Lawrenson, K., Winham, S. J., Dennis, J., Pirie, A., Riggan, M. J., Chornokur, G., Earp, M. A., Lyra, P. C., Lee, J. M., Coetzee, S., Beesley, J., McGuffog, L., Soucy, P., Dicks, E., Lee, A., Barrowdale, D., Lecarpentier, J., Leslie, G., Aalfs, C. M., Aben, K. K. H., Adams, M., Adlard, J., Andrulis, I. L., Anton-Culver, H., Antonenkova, N., Aravantinos, G., Arnold, N., Arun, B. K., Arver, B., Azzollini, J., Balmaña, J., Banerjee, S. N., Barjhoux, L., Barkardottir, R. B., Bean, Y., Beckmann, M. W., Beeghly-Fadiel, A., Ejlertsen, B., Gerdes, A-M., Hansen, T. V. O., Høgdall, C. K., Høgdall, E., Jensen, A., Kjaer, S. K., Lundvall, L., Nedergaard, L. & AOCS study group, May 2017, In : Nature Genetics. 49, 5, p. 680-691 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. Published

    Fordele og ulemper ved forbrugergenetik

    Christiansen, C. W. & Gerdes, A-M. A., 13 Mar 2017, In : Ugeskrift for Laeger. 179, 11, p. 2-5

    Research output: Contribution to journalJournal articleResearchpeer-review

  30. Published

    Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3

    Hamdi, Y., Soucy, P., Kuchenbaeker, K. B., Pastinen, T., Droit, A., Lemaçon, A., Adlard, J., Aittomäki, K., Andrulis, I. L., Arason, A., Arnold, N., Arun, B. K., Azzollini, J., Bane, A., Barjhoux, L., Barrowdale, D., Benitez, J., Berthet, P., Blok, M. J., Bobolis, K., Bonadona, V., Bonanni, B., Bradbury, A. R., Brewer, C., Buecher, B., Buys, S. S., Caligo, M. A., Chiquette, J., Chung, W. K., Claes, K. B. M., Daly, M. B., Damiola, F., Davidson, R., De la Hoya, M., De Leeneer, K., Diez, O., Ding, Y. C., Dolcetti, R., Domchek, S. M., Dorfling, C. M., Eccles, D., Eeles, R., Einbeigi, Z., Ejlertsen, B., Engel, C., Gareth Evans, D., Feliubadalo, L., Gerdes, A-M., Hansen, T. V. O., Sønderstrup, I. M. H. & EMBRACE, Jan 2017, In : Breast Cancer Research and Treatment. 161, 1, p. 117-134

    Research output: Contribution to journalJournal articleResearchpeer-review

  31. 2016
  32. Published

    Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4

    Johansson, P., Aoude, L. G., Wadt, K., Glasson, W. J., Warrier, S. K., Hewitt, A. W., Kiilgaard, J. F., Heegaard, S., Isaacs, T., Franchina, M., Ingvar, C., Vermeulen, T., Whitehead, K. J., Schmidt, C. W., Palmer, J. M., Symmons, J., Gerdes, A-M., Jönsson, G. & Hayward, N. K., 14 Dec 2016, In : Oncotarget. 7, 4, p. 4624-31

    Research output: Contribution to journalJournal articleResearchpeer-review

  33. Published

    Current perspectives on recommendations for BRCA genetic testing in ovarian cancer patients

    Vergote, I., Banerjee, S., Gerdes, A-M., van Asperen, C., Marth, C., Vaz, F., Ray-Coquard, I., Stoppa-Lyonnet, D., Gonzalez-Martin, A., Sehouli, J. & Colombo, N., 4 Nov 2016, In : European journal of cancer (Oxford, England : 1990). 69, p. 127-134 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  34. Published

    JP-HHT phenotype in Danish patients with SMAD4 mutations

    Jelsig, A. M., Tørring, P. M., Kjeldsen, A. D., Qvist, N., Bojesen, A., Jensen, U. B., Andersen, M. K., Gerdes, A. M., Brusgaard, K. & Ousager, L. B., Jul 2016, In : Clinical Genetics. 90 , 1, p. 55–62

    Research output: Contribution to journalJournal articleResearchpeer-review

  35. Published

    An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers

    Madorsky-Feldman, D., Sklair-Levy, M., Perri, T., Laitman, Y., Paluch-Shimon, S., Schmutzler, R., Rhiem, K., Lester, J., Karlan, B. Y., Singer, C. F., Van Maerken, T., Claes, K., Brunet, J., Izquierdo, A., Teulé, A., Lee, J. W., Kim, S-W., Arun, B., Jakubowska, A., Lubinski, J., Tucker, K., Poplawski, N. K., Varesco, L., Bonelli, L. A., Buys, S. S., Mitchell, G., Tischkowitz, M., Gerdes, A-M., Seynaeve, C., Robson, M., Kwong, A., Tung, N., Tessa, N., Domchek, S. M., Godwin, A. K., Rantala, J., Arver, B. & Friedman, E., Jun 2016, In : Breast Cancer Research and Treatment. 157, 2, p. 319-27 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. Published

    Disease pattern in Danish patients with Peutz-Jeghers syndrome

    Jelsig, A. M., Qvist, N., Sunde, L., Brusgaard, K., Hansen, T. V. O., Wikman, F. P., Nielsen, C. B., Nielsen, I. K., Gerdes, A. M., Bojesen, A. & Ousager, L. B., May 2016, In : International Journal of Colorectal Disease. 31, 5, p. 997-1004

    Research output: Contribution to journalJournal articleResearchpeer-review

  37. Published

    No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

    Hollestelle, A., van der Baan, F. H., Berchuck, A., Johnatty, S. E., Aben, K. K., Agnarsson, B. A., Aittomäki, K., Alducci, E., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Antoniou, A. C., Apicella, C., Arndt, V., Arnold, N., Arun, B. K., Arver, B., Ashworth, A., Baglietto, L., Balleine, R., Bandera, E. V., Barrowdale, D., Bean, Y. T., Beckmann, L., Beckmann, M. W., Benitez, J., Berger, A., Berger, R., Beuselinck, B., Bisogna, M., Bjorge, L., Blomqvist, C., Bogdanova, N. V., Bojesen, A., Bojesen, S. E., Bolla, M. K., Bonanni, B., Brand, J. S., Ejlertsen, B., Gerdes, A-M., Hansen, T. V. O., Høgdall, C. K., Høgdall, E., Jensen, A., Kjaer, S. K., Lundvall, L., Nielsen, F. C., Nielsen, S. F., Nordestgaard, B. G., Weischer, M. & Ovarian Cancer Association Consortium, Breast Cancer Association Consortium, and Consortium of Modifiers of BRCA1 and BRCA2, May 2016, In : Gynecologic Oncology. 141, 2, p. 386-401

    Research output: Contribution to journalJournal articleResearchpeer-review

  38. Published

    Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

    Couch, F. J., Kuchenbaecker, K. B., Michailidou, K., Mendoza-Fandino, G. A., Nord, S., Lilyquist, J., Olswold, C., Hallberg, E., Agata, S., Ahsan, H., Aittomäki, K., Ambrosone, C., Andrulis, I. L., Anton-Culver, H., Arndt, V., Arun, B. K., Arver, B., Barile, M., Barkardottir, R. B., Barrowdale, D., Beckmann, L., Beckmann, M. W., Benitez, J., Blank, S. V., Blomqvist, C., Bogdanova, N. V., Bojesen, S. E., Bolla, M. K., Bonanni, B., Brauch, H., Brenner, H., Burwinkel, B., Buys, S. S., Caldes, T., Caligo, M. A., Canzian, F., Carpenter, J., Chang-Claude, J., Chanock, S. J., Chung, W. K., Claes, K. B. M., Cox, A., Cross, S. S., Cunningham, J. M., Czene, K., Daly, M. B., Damiola, F., Darabi, H., de la Hoya, M., Devilee, P., Diez, O., Ding, Y. C., Dolcetti, R., Domchek, S. M., Dorfling, C. M., Dos-Santos-Silva, I., Dumont, M., Dunning, A. M., Eccles, D. M., Ehrencrona, H., Ekici, A. B., Eliassen, H., Ellis, S., Fasching, P. A., Figueroa, J., Flesch-Janys, D., Försti, A., Fostira, F., Foulkes, W. D., Friebel, T., Friedman, E., Frost, D., Gabrielson, M., Gammon, M. D., Ganz, P. A., Gapstur, S. M., Garber, J., Gaudet, M. M., Gayther, S. A., Gerdes, A-M., Ghoussaini, 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., Gunter, M., Haeberle, L., Haiman, C. A., Hamann, U., Hansen, T. V. O., Hart, S., Healey, S., Heikkinen, T., Henderson, B. E., Herzog, J., Hogervorst, F. B. L., Hollestelle, A., Hooning, M. J., Hoover, R. N., Hopper, J. L., Humphreys, K., Hunter, D. J., Huzarski, T., Imyanitov, E. N., Isaacs, C., Jakubowska, A., James, P., Janavicius, R., Jensen, U. B., John, E. M., Jones, M., Kabisch, M., Kar, S., Karlan, B. Y., Khan, S., Khaw, K-T., Kibriya, M. G., Knight, J. A., Ko, Y-D., Konstantopoulou, I., Kosma, V-M., Kristensen, V., Kwong, A., Laitman, Y., Lambrechts, D., Lazaro, C., Lee, E., Le Marchand, L., Lester, J., Lindblom, A., Lindor, N., Lindstrom, S., Liu, J., Long, J., Lubinski, J., Mai, P. L., Makalic, E., Malone, K. E., Mannermaa, A., Manoukian, S., Margolin, S., Marme, F., Martens, J. W. M., McGuffog, L., Meindl, A., Miller, A., Milne, R. L., Miron, P., Montagna, M., Mazoyer, S., Mulligan, A. M., Muranen, T. A., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Nordestgaard, B. G., Nussbaum, R. L., Offit, K., Olah, E., Olopade, O. I., Olson, J. E., Osorio, A., Park, S. K., Peeters, P. H., Peissel, B., Peterlongo, P., Peto, J., Phelan, C. M., Pilarski, R., Poppe, B., Pylkäs, K., Radice, P., Rahman, N., Rantala, J., Rappaport, C., Rennert, G., Richardson, A., Robson, M., Romieu, I., Rudolph, A., Rutgers, E. J., Sanchez, M-J., Santella, R. M., Sawyer, E. J., Schmidt, D. F., Schmidt, M. K., Schmutzler, R. K., Schumacher, F., Scott, R., Senter, L., Sharma, P., Simard, J., Singer, C. F., Sinilnikova, O. M., Soucy, P., Southey, M., Steinemann, D., Stenmark-Askmalm, M., Stoppa-Lyonnet, D., Swerdlow, A., Szabo, C. I., Tamimi, R., Tapper, W., Teixeira, M. R., Teo, S-H., Terry, M. B., Thomassen, M., Thompson, D., Tihomirova, L., Toland, A. E., Tollenaar, R. A. E. M., Tomlinson, I., Truong, T., Tsimiklis, H., Teulé, A., Tumino, R., Tung, N., Turnbull, C., Ursin, G., van Deurzen, C. H. M., van Rensburg, E. J., Varon-Mateeva, R., Wang, Z., Wang-Gohrke, S., Weiderpass, E., Weitzel, J. N., Whittemore, A., Wildiers, H., Winqvist, R., Yang, X. R., Yannoukakos, D., Yao, S., Zamora, M. P., Zheng, W., Hall, P., Kraft, P., Vachon, C., Slager, S., Chenevix-Trench, G., Pharoah, P. D. P., Monteiro, A. A. N., García-Closas, M., Easton, D. F. & Antoniou, A. C., 27 Apr 2016, In : Nature Communications. 7, p. 11375

    Research output: Contribution to journalJournal articleResearchpeer-review

  39. Published

    Is screening for pancreatic cancer in high-risk groups cost-effective? - Experience from a Danish national screening program

    Joergensen, M. T., Gerdes, A-M., Sorensen, J., Schaffalitzky de Muckadell, O. & Mortensen, M. B., 20 Apr 2016, In : Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]. 16, 4, p. 584-92 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  40. Published

    Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

    Silvestri, V., Barrowdale, D., Mulligan, A. M., Neuhausen, S. L., Fox, S., Karlan, B. Y., Mitchell, G., James, P., Thull, D. L., Zorn, K. K., Carter, N. J., Nathanson, K. L., Domchek, S. M., Rebbeck, T. R., Ramus, S. J., Nussbaum, R. L., Olopade, O. I., Rantala, J., Yoon, S-Y., Caligo, M. A., Spugnesi, L., Bojesen, A., Pedersen, I. S., Thomassen, M., Jensen, U. B., Toland, A. E., Senter, L., Andrulis, I. L., Glendon, G., Hulick, P. J., Imyanitov, E. N., Greene, M. H., Mai, P. L., Singer, C. F., Rappaport-Fuerhauser, C., Kramer, G., Vijai, J., Offit, K., Robson, M., Lincoln, A., Jacobs, L., Machackova, E., Foretova, L., Navratilova, M., Vasickova, P., Couch, F. J., Hallberg, E., Gerdes, A-M., Ejlertsen, B., Hansen, T. V. O. & kConFab Investigators, 9 Feb 2016, In : Breast Cancer Research. 18, 1, p. 15

    Research output: Contribution to journalJournal articleResearchpeer-review

  41. Published

    BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

    Meeks, H. D., Song, H., Michailidou, K., Bolla, M. K., Dennis, J., Wang, Q., Barrowdale, D., Frost, D., McGuffog, L., Ellis, S., Feng, B., Buys, S. S., Hopper, J. L., Southey, M. C., Tesoriero, A., James, P. A., Bruinsma, F., Campbell, I. G., Broeks, A., Schmidt, M. K., Hogervorst, F. B. L., Beckman, M. W., Fasching, P. A., Fletcher, O., Johnson, N., Sawyer, E. J., Riboli, E., Banerjee, S., Menon, U., Tomlinson, I., Burwinkel, B., Hamann, U., Marme, F., Rudolph, A., Janavicius, R., Tihomirova, L., Tung, N., Garber, J., Cramer, D., Terry, K. L., Poole, E. M., Tworoger, S. S., Dorfling, C. M., Bojesen, S. E., Flyger, H., Gerdes, A-M., Hansen, T. V. O., Kjaer, S. K., Hogdall, C., Hogdall, E. & EMBRACE, Feb 2016, In : Journal of the National Cancer Institute. 108, 2, p. djv315

    Research output: Contribution to journalJournal articleResearchpeer-review

  42. Published

    Phenotypic and histopathological tumor characteristics according to CDKN2A mutation status among affected members of melanoma families

    Taylor, N. J., Handorf, E. A., Mitra, N., Avril, M-F., Azizi, E., Bergman, W., Bianchi-Scarrà, G., Bishop, D. T., Bressac-de Paillerets, B., Calista, D., Cannon-Albright, L. A., Cuellar, F., Cust, A. E., Demenais, F., Elder, D. E., Friedman, E., Gerdes, A-M., Ghiorzo, P., Goldstein, A. M., Grazziotin, T. C., Hansson, J., Hayward, N. K., Hocevar, M., Höiom, V., Holland, E. A., Ingvar, C., Landi, M. T., Landman, G., Larre-Borges, A., Leachman, S. A., Mann, G. J., Nagore, E., Olsson, H., Palmer, J., Perić, B., Pjanova, D., Puig, S., Schmid, H., van der Stoep, N., Tucker, M. A., Wadt, K. A. W., Whitaker, L., Yang, X. R., Newton Bishop, J. A., Gruis, N. A., Kanetsky, P. A. & GenoMEL Consortium, 28 Jan 2016, In : The Journal of investigative dermatology. 136, 5, p. 1066–1069

    Research output: Contribution to journalJournal articleResearchpeer-review

  43. Published
  44. Published

    Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

    Vigorito, E., Kuchenbaecker, K. B., Beesley, J., Adlard, J., Agnarsson, B. A., Andrulis, I. L., Arun, B. K., Barjhoux, L., Belotti, M., Benitez, J., Berger, A., Bojesen, A., Bonanni, B., Brewer, C., Caldes, T., Caligo, M. A., Campbell, I., Chan, S. B., Claes, K. B. M., Cohn, D. E., Cook, J., Daly, M. B., Damiola, F., Davidson, R., Pauw, A. D., Delnatte, C., Diez, O., Domchek, S. M., Dumont, M., Durda, K., Dworniczak, B., Easton, D. F., Eccles, D., Edwinsdotter Ardnor, C., Eeles, R., Ejlertsen, B., Ellis, S., Evans, D. G., Feliubadalo, L., Fostira, F., Foulkes, W. D., Friedman, E., Frost, D., Gaddam, P., Ganz, P. A., Garber, J., Garcia-Barberan, V., Gauthier-Villars, M., Gehrig, A., Gerdes, A-M., Giraud, S., Godwin, A. K., Goldgar, D. E., Hake, C. R., Hansen, T. V. O., Healey, S., Hodgson, S., Hogervorst, F. B. L., Houdayer, C., Hulick, P. J., Imyanitov, E. N., Isaacs, C., Izatt, L., Izquierdo, A., Jacobs, L., Jakubowska, A., Janavicius, R., Jaworska-Bieniek, K., Jensen, U. B., John, E. M., Vijai, J., Karlan, B. Y., Kast, K., Investigators, KC., Khan, S., Kwong, A., Laitman, Y., Lester, J., Lesueur, F., Liljegren, A., Lubinski, J., Mai, P. L., Manoukian, S., Mazoyer, S., Meindl, A., Mensenkamp, A. R., Montagna, M., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Niederacher, D., Olah, E., Olopade, O. I., Ong, K-R., Osorio, A., Park, S. K., Paulsson-Karlsson, Y., Pedersen, I. S., Peissel, B., Peterlongo, P., Pfeiler, G., Phelan, C. M., Piedmonte, M., Poppe, B., Pujana, M. A., Radice, P., Rennert, G., Rodriguez, G. C., Rookus, M. A., Ross, E. A., Schmutzler, R. K., Simard, J., Singer, C. F., Slavin, T. P., Soucy, P., Southey, M., Steinemann, D., Stoppa-Lyonnet, D., Sukiennicki, G., Sutter, C., Szabo, C. I., Tea, M-K., Teixeira, M. R., Teo, S-H., Terry, M. B., Thomassen, M., Tibiletti, M. G., Tihomirova, L., Tognazzo, S., van Rensburg, E. J., Varesco, L., Varon-Mateeva, R., Vratimos, A., Weitzel, J. N., McGuffog, L., Kirk, J., Toland, A. E., Hamann, U., Lindor, N., Ramus, S. J., Greene, M. H., Couch, F. J., Offit, K., Pharoah, P. D. P., Chenevix-Trench, G. & Antoniou, A. C., 2016, In : P L o S One. 11, 7, p. e0158801

    Research output: Contribution to journalJournal articleResearchpeer-review

  45. Published

    Germline TERT promoter mutations are rare in familial melanoma

    Harland, M., Petljak, M., Robles-Espinoza, C. D., Ding, Z., Gruis, N. A., van Doorn, R., Pooley, K. A., Dunning, A. M., Aoude, L. G., Wadt, K. A. W., Gerdes, A-M., Brown, K. M., Hayward, N. K., Newton-Bishop, J. A., Adams, D. J. & Bishop, D. T., 2016, In : Familial Cancer. 15, 1, p. 139-40

    Research output: Contribution to journalJournal articleResearchpeer-review

  46. Published

    Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients

    Bennedbæk, M., Rossing, M., Rasmussen, Å. K., Gerdes, A-M., Skytte, A-B., Jensen, U. B., Nielsen, F. C. & Hansen, T. V. O., 2016, In : Hereditary Cancer in Clinical Practice. 14, p. 13

    Research output: Contribution to journalJournal articleResearchpeer-review

  47. 2015
  48. Published

    High accuracy of family history of melanoma in Danish melanoma cases

    Wadt, K. A. W., Drzewiecki, K. T. & Gerdes, A-M., Dec 2015, In : Familial Cancer. 14, 4, p. 609-13 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  49. Published

    POLE mutations in families predisposed to cutaneous melanoma

    Aoude, L. G., Heitzer, E., Johansson, P., Gartside, M., Wadt, K., Pritchard, A. L., Palmer, J. M., Symmons, J., Gerdes, A-M., Montgomery, G. W., Martin, N. G., Tomlinson, I., Kearsey, S. & Hayward, N. K., Dec 2015, In : Familial Cancer. 14, 4, p. 621-8 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  50. Published

    Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents

    Bodo, S., Colas, C., Buhard, O., Collura, A., Tinat, J., Lavoine, N., Guilloux, A., Chalastanis, A., Lafitte, P., Coulet, F., Buisine, M-P., Ilencikova, D., Ruiz-Ponte, C., Kinzel, M., Grandjouan, S., Brems, H., Lejeune, S., Blanché, H., Wang, Q., Caron, O., Cabaret, O., Svrcek, M., Vidaud, D., Parfait, B., Verloes, A., Knappe, U., Soubrier, F., Mortemousque, I., Leis, A., Auclair-Perrossier, J., Frébourg, T., Fléjou, J-F., Entz-Werle, N., Leclerc, J., Malka, D., Cohen-Haguenauer, O., Goldberg, Y., Gerdes, A-M., Fedhila, F., Mathieu-Dramard, M., Hamelin, R., Wafaa, B., Gauthier-Villars, M., Bourdeaut, F., Sheridan, E., Vasen, H., Brugières, L., Wimmer, K., Muleris, M., Duval, A. & European Consortium “Care for CMMRD”, Oct 2015, In : Gastroenterology. 149, 4, p. 1017-1029.e3

    Research output: Contribution to journalJournal articleResearchpeer-review

  51. Published

    Germline RAD51B truncating mutation in a family with cutaneous melanoma

    Wadt, K. A. W., Aoude, L. G., Golmard, L., Hansen, T. V. O., Sastre-Garau, X., Hayward, N. K. & Gerdes, A-M., Jun 2015, In : Familial Cancer. 14, 2, p. 337-40 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  52. Published

    Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

    Rebbeck, T. R., Mitra, N., Wan, F., Sinilnikova, O. M., Healey, S., McGuffog, L., Mazoyer, S., Chenevix-Trench, G., Easton, D. F., Antoniou, A. C., Nathanson, K. L., Laitman, Y., Kushnir, A., Paluch-Shimon, S., Berger, R., Zidan, J., Friedman, E., Ehrencrona, H., Stenmark-Askmalm, M., Einbeigi, Z., Loman, N., Harbst, K., Rantala, J., Melin, B., Huo, D., Olopade, O. I., Seldon, J., Ganz, P. A., Nussbaum, R. L., Chan, S. B., Odunsi, K., Gayther, S. A., Domchek, S. M., Arun, B. K., Lu, K. H., Mitchell, G., Karlan, B. Y., Walsh, C., Lester, J., Godwin, A. K., Pathak, H., Ross, E., Daly, M. B., Whittemore, A. S., John, E. M., Miron, A., Terry, M. B., Ejlertsen, B., Gerdes, A-M., Hansen, T. V. O. & CIMBA Consortium, 7 Apr 2015, In : J A M A: The Journal of the American Medical Association. 313, 13, p. 1347-61 15 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  53. Published

    Identification of six new susceptibility loci for invasive epithelial ovarian cancer

    Kuchenbaecker, K. B., Ramus, S. J., Tyrer, J., Lee, A., Shen, H. C., Beesley, J., Lawrenson, K., McGuffog, L., Healey, S., Lee, J. M., Spindler, T. J., Lin, Y. G., Pejovic, T., Bean, Y., Li, Q., Coetzee, S., Hazelett, D., Miron, A., Southey, M., Terry, M. B., Goldgar, D. E., Buys, S. S., Janavicius, R., Dorfling, C. M., van Rensburg, E. J., Neuhausen, S. L., Ding, Y. C., Hansen, T. V. O., Jønson, L., Gerdes, A-M., Ejlertsen, B., Barrowdale, D., Dennis, J., Benitez, J., Osorio, A., Garcia, M. J., Komenaka, I., Weitzel, J. N., Ganschow, P., Peterlongo, P., Bernard, L., Viel, A., Bonanni, B., Peissel, B., Jensen, A., Kjaer, S. K., Hogdall, E., Hogdall, C., Lundvall, L., Nedergaard, L. & EMBRACE, Feb 2015, In : Nature Genetics. 47, 2, p. 164-71 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  54. Published

    Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma

    Aoude, L. G., Pritchard, A. L., Robles-Espinoza, C. D., Wadt, K., Harland, M., Choi, J., Gartside, M., Quesada, V., Johansson, P., Palmer, J. M., Ramsay, A. J., Zhang, X., Jones, K., Symmons, J., Holland, E. A., Schmid, H., Bonazzi, V., Woods, S., Dutton-Regester, K., Stark, M. S., Snowden, H., van Doorn, R., Montgomery, G. W., Martin, N. G., Keane, T. M., López-Otín, C., Gerdes, A-M., Olsson, H., Ingvar, C., Borg, A., Gruis, N. A., Trent, J. M., Jönsson, G., Bishop, D. T., Mann, G. J., Newton-Bishop, J. A., Brown, K. M., Adams, D. J. & Hayward, N. K., Feb 2015, In : National Cancer Institute. Journal (Online). 107, 2, p. dju408

    Research output: Contribution to journalJournal articleResearchpeer-review

  55. Published

    Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

    Peterlongo, P., Chang-Claude, J., Moysich, K. B., Rudolph, A., Schmutzler, R. K., Simard, J., Soucy, P., Eeles, R. A., Easton, D. F., Hamann, U., Wilkening, S., Chen, B., Rookus, M. A., Schmidt, M. K., van der Baan, F. H., Spurdle, A. B., Walker, L. C., Lose, F., Maia, A-T., Montagna, M., Matricardi, L., Lubinski, J., Jakubowska, A., Gómez Garcia, E. B., Olopade, O. I., Nussbaum, R. L., Nathanson, K. L., Domchek, S. M., Rebbeck, T. R., Arun, B. K., Karlan, B. Y., Orsulic, S., Lester, J., Chung, W. K., Miron, A., Southey, M. C., Goldgar, D. E., Buys, S. S., Janavicius, R., Dorfling, C. M., van Rensburg, E. J., Ding, Y. C., Neuhausen, S. L., Hansen, T. V. O., Gerdes, A-M., Ejlertsen, B., Jønson, L., Osorio, A., Martínez-Bouzas, C., Benitez, J. & EMBRACE, Jan 2015, In : Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. 24, 1, p. 308-16 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

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ID: 30783883