Anne-Marie Axø Gerdes

Anne-Marie Axø Gerdes

Clinical Professor

Member of:

  • Clinical Genetics


Publication year:
All
1 - 100 out of 144Page size: 100
  1. 2000
  2. Published

    Frequent disruption of the RB1 pathway in diffuse large B cell lymphoma: prognostic significance of E2F-1 and p16INK4A

    Møller, M. B., Kania, Per, Ino, Y., Gerdes, Anne-Marie Axø, Nielsen, Olaf, Louis, D. N., Skjødt, K. & Pedersen, N. T., May 2000, In: Leukemia. 14, 5, p. 898-904 7 p.

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

  3. 2009
  4. Published

    Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients

    Christensen, L. L., Kariola, R., Korhonen, M. K., Wikman, F. P., Sunde, L., Gerdes, A-M., Okkels, H., Brandt, C. A., Bernstein, I., Hansen, T. V. O., Hagemann-Madsen, R., Andersen, C. L., Nyström, M., Ørntoft, T. F., Christensen, L., Kariola, R., Korhonen, M., Wikman, F., Sunde, L., Gerdes, A-M. & 8 others, Okkels, H., Brandt, C., Bernstein, I., Hansen, T., Hagemann-Madsen, R., Andersen, C., Nyström, M. & Orntoft, T., 2009, In: Familial Cancer. 8, 4, p. 489-500 11 p.

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

  5. 2010
  6. Published

    Medullary thyroid cancer: RET testing of an archival material

    Godballe, C., Jørgensen, G., Gerdes, Anne-Marie Axø, Krogdahl, A. S., Tybjærg-Hansen, Anne & Nielsen, Finn Cilius, 1 Apr 2010, In: European Archives of Oto-Rhino-Laryngology. 267, 4, p. 613-7 5 p.

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

  7. Published

    Risk-reducing mastectomy and salpingo-oophorectomy in unaffected BRCA mutation carriers: uptake and timing

    Skytte, A., Gerdes, Anne-Marie Axø, Andersen, M. K., Sunde, L., Brøndum-Nielsen, K., Waldstrøm, M., Kølvraa, S., Crüger, D., Skytte, A., Gerdes, Anne-Marie Axø, Andersen, M. K., Sunde, L., Brøndum-Nielsen, K., Waldstrøm, M., Kølvraa, S. & Crüger, D., 1 Apr 2010, In: Clinical Genetics. 77, 4, p. 342-9 8 p.

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

  8. Published

    Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations

    Steffensen, A. Y., Jønson, L., Ejlertsen, B., Gerdes, Anne-Marie Axø, Nielsen, Finn Cilius & Hansen, Thomas van Overeem, 1 Sep 2010, In: Familial Cancer. 9, 3, p. 283-7 5 p.

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

  9. Published

    A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

    Antoniou, A. C., Wang, X., Fredericksen, Z. S., McGuffog, L., Tarrell, R., Sinilnikova, O. M., Healey, S., Morrison, J., Kartsonaki, C., Lesnick, T., Ghoussaini, M., Barrowdale, D., Peock, S., Cook, M., Oliver, C., Frost, D., Eccles, D., Evans, D. G., Eeles, R., Izatt, L. & 31 others, Chu, C., Douglas, F., Paterson, J., Stoppa-Lyonnet, D., Houdayer, C., Mazoyer, S., Giraud, S., Lasset, C., Remenieras, A., Caron, O., Hardouin, A., Berthet, P., Hogervorst, F. B. L., Rookus, M. A., Jager, A., van den Ouweland, A., Hoogerbrugge, N., van der Luijt, R. B., Meijers-Heijboer, H., Gómez García, E. B., Devilee, P., Vreeswijk, M. P. G., Lubinski, J., Jakubowska, A., Gronwald, J., Huzarski, T., Byrski, T., Gerdes, Anne-Marie Axø, Hansen, Thomas van Overeem, Nielsen, Finn Cilius & EMBRACE, E., 1 Oct 2010, In: Nature Genetics. 42, 10, p. 885-92 8 p.

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

  10. 2011
  11. Published

    A putative Lynch syndrome family carrying MSH2 and MSH6 variants of uncertain significance-functional analysis reveals the pathogenic one

    Kantelinen, J., Hansen, T. V. O., Kansikas, M., Krogh, L. N., Korhonen, M. K., Ollila, S., Nyström, M., Gerdes, Anne-Marie Axø & Kariola, R., 2011, In: Familial Cancer. 10, 3, p. 515-20 6 p.

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

  12. Published

    Arvelige cancersyndromer

    Gerdes, Anne-Marie Axø, 2011, In: Ugeskrift for Laeger. 173, 34, p. 2035-8 4 p.

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

  13. Published

    Biomedical informatics as support to individual healthcare in hereditary colon cancer: the Danish HNPCC system

    Bernstein, I. T., Lindorff-Larsen, K., Timshel, S., Brandt, C., Dinesen, B., Fenger, M., Gerdes, Anne-Marie Axø, Iversen, L. H., Madsen, M. R., Okkels, H., Sunde, L. E. M., Rahr, H., Wikman, F. P. & Rossing, N. N., 2011, In: Human Mutation. 32, 5, p. 551-6 6 p.

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

  14. Published

    Breast cancer after bilateral risk-reducing mastectomy

    Skytte, A., Crüger, D. G., Gerster, M., Laenkholm, A., Lang, C., Brøndum-Nielsen, K., Andersen, M. K., Sunde, L. E. M., Kølvraa, S. & Gerdes, Anne-Marie Axø, 2011, In: Clinical Genetics. 79, 5, p. 431-7 7 p.

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

  15. Published

    Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

    Antoniou, A. C., Kartsonaki, C., Sinilnikova, O. M., Soucy, P., McGuffog, L., Healey, S., Lee, A. R., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Cattaneo, E., Barile, M., Pensotti, V., Pasini, B., Dolcetti, R., Giannini, G., Putignano, A. L., Varesco, L., Radice, P. & 31 others, Mai, P. L., Greene, M. H., Andrulis, I. L., Glendon, G., Ozcelik, H., Thomassen, M., Gerdes, Anne-Marie Axø, Kruse, T. A., Birk Jensen, U., Crüger, D. G., Caligo, M. A., Laitman, Y., Milgrom, R., Kaufman, B., Paluch-Shimon, S., Friedman, E., Loman, N., Harbst, K., Lindblom, A., Arver, B., Ehrencrona, H., Melin, B., Nathanson, K. L., Domchek, S. M., Rebbeck, T., Jakubowska, A., Lubinski, J., Gronwald, J., Huzarski, T., Byrski, T. & SWE-BRCA, S., 2011, In: Human Molecular Genetics. 20, 16, p. 3304-21 18 p.

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

  16. Published

    Common breast cancer susceptibility alleles are associated with tumor subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

    Mulligan, A. M., Couch, F. J., Barrowdale, D., Domchek, S. M., Eccles, D., Nevanlinna, H., Ramus, S. J., Robson, M., Sherman, M., Spurdle, A. B., Wappenschmidt, B., Lee, A. R., McGuffog, L., Healey, S., Sinilnikova, O. M., Janavicius, R., Hansen, T. V. O., Nielsen, F. C., Ejlertsen, B., Osorio, A. & 169 others, Munoz-Repeto, I., Duran, M., Godino, J., Pertesi, M., Benitez, J., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Cattaneo, E., Bonanni, B., Viel, A., Pasini, B., Papi, L., Ottini, L., Savarese, A., Bernard, L., Radice, P., Hamann, U., Verheus, M., Meijers-Heijboer, H. E., Wijnen, J., Gomez Garcia, E. B., Nelen, M. R., Kets, C. M., Seynaeve, C., Tilanus-Linthorst, M. M., van der Luijt, R. B., van Os, T., Rookus, M., Frost, D., Jones, J. L., Evans, D. G., Lalloo, F., Eeles, R., Izatt, L., Adlard, J., Davidson, R., Cook, J., Donaldson, A., Dorkins, H., Gregory, H., Eason, J., Houghton, C., Barwell, J., Side, L. E., McCann, E., Murray, A., Peock, S., Godwin, A., Schmutzler, R. K., Rhiem, K., Engel, C., Meindl, A., Ruehl, I., Arnold, N., Niederacher, D., Sutter, C., Deissler, H., Gadzicki, D., Kast, K., Preisler-Adams, S., Varon-Mateeva, R., Schoenbuchner, I., Fiebig, B., Heinritz, W., Schafer, D., Gevensleben, H., Caux-Moncoutier, V., Fassy-Colcombet, M., Cornelis, F., Mazoyer, S., Leone, M., Boutry-Kryza, N., Hardouin, A., Berthet, P., Muller, D., Fricker, J., Mortemousque, I., Pujol, P., Coupier, I., Lebrun, M., Kientz, C., Longy, M., Sevenet, N., Stoppa-Lyonnet, D., Isaacs, C., Caldes, T., de Al Hoya, M., Heikkinen, T., Aittomaki, K., Blanco, I., Lazaro, C., Barkardottir, R. B., Soucy, P., Dumont, M., Simard, J., Montagna, M., Tognazzo, S., D'Andrea, E., Fox, S., Yan, M., Rebbeck, T. R., Olopade, O. I., Weitzel, J. N., Lynch, H. T., Ganz, P. A., Tomlinson, G. E., Wang, X., Fredericksen, Z., Pankratz, V. S., Lindor, N. M., Szabo, C., Offit, K., Sakr, R., Gaudet, M., Bhatia, J., Kauff, N., Singer, C. F., Tea, M., Gschwantler-Kaulich, D., Fink-Retter, A., Mai, P. L., Greene, M. H., Imyanitov, E., O'Malley, F. P., Ozcelik, H., Glendon, G., Toland, A. E., Gerdes, Anne-Marie Axø, Thomassen, M., Kruse, T. A., Birk Jensen, U., Skytte, A., Caligo, M. A., Soller, M., Henriksson, K., von Wachenfeldt, A., Arver, B., Stenmark-Askmalm, M., Karlsson, P. W., Ding, Y. C., Neuhausen, S. L., Beattie, M., Pharoah, P. D., Moysich, K. B., Nathanson, K. L., Karlan, B. Y., Gross, J., John, E. M., Daly, M. B., Buys, S. M., Southey, M. C., Hopper, J. L., Terry, M. B., Chung, W., Miron, A. F., Goldgar, D., Chenevix-Trench, G., Easton, D. F., Andrulis, I. L., Antoniou, A. C., Family Registry, B. C., Embrace, Collaborators, G. S., Hebon, Network, O. C. G., Swe-Brca & Cimba, 2011, In: Breast Cancer Research (Online Edition). 13, 6, p. R110

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

  17. Published

    Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

    Cox, D. G., Simard, J., Sinnett, D., Hamdi, Y., Soucy, P., Ouimet, M., Barjhoux, L., Verny-Pierre, C., McGuffog, L., Healey, S., Szabo, C., Greene, M. H., Mai, P. L., Andrulis, I. L., Thomassen, M., Gerdes, A-M., Caligo, M. A., Friedman, E., Laitman, Y., Kaufman, B. & 31 others, Paluch, S. S., Borg, Å., Karlsson, P. W., Askmalm, M. S., Bustinza, G. B., Nathanson, K. L., Domchek, S. M., Rebbeck, T. R., Benítez, J., Hamann, U., Rookus, M. A., van den Ouweland, A. M. W., Ausems, M. G. E. M., Aalfs, C. M., van Asperen, C. J., Devilee, P., Gille, H. J. J. P., Peock, S., Frost, D., Evans, D. G., Eeles, R., Izatt, L., Adlard, J., Paterson, J., Eason, J., Godwin, A. K., Remon, M., Moncoutier, V., Gauthier-Villars, M., Lasset, C. & Ontario Cancer Genetics Network, O. C. G. N., 2011, In: Human Molecular Genetics. 20, 23, p. 4732-47 16 p.

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

  18. Published

    Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

    Ramus, S. J., Kartsonaki, C., Gayther, S. A., Pharoah, P. D. P., Sinilnikova, O. M., Beesley, J., Chen, X., McGuffog, L., Healey, S., Couch, F. J., Wang, X., Fredericksen, Z., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Roversi, G., Barile, M., Viel, A., Allavena, A. & 31 others, Ottini, L., Papi, L., Gismondi, V., Capra, F., Radice, P., Greene, M. H., Mai, P. L., Andrulis, I. L., Glendon, G., Ozcelik, H., Thomassen, M., Gerdes, Anne-Marie Axø, Kruse, T. A., Cruger, D., Jensen, U. B., Caligo, M. A., Olsson, H., Kristoffersson, U., Lindblom, A., Arver, B., Karlsson, P. W., Stenmark Askmalm, M., Borg, A., Neuhausen, S. L., Ding, Y. C., Nathanson, K. L., Domchek, S. M., Hansen, Thomas van Overeem, Jønson, L., Ejlertsen, Bent Laursen & OCGN, O., 2011, In: National Cancer Institute. Journal (Print). 103, 2, p. 105-16 12 p.

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

  19. Published

    International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

    Peixoto, A., Santos, C., Pinheiro, M., Pinto, P., Soares, M. J., Rocha, P., Gusmão, L., Amorim, A., van der Hout, A., Gerdes, A-M., Thomassen, M., Kruse, T. A., Cruger, D., Sunde, L. E. M., Bignon, Y-J., Uhrhammer, N., Cornil, L., Rouleau, E., Lidereau, R., Yannoukakos, D. & 47 others, Pertesi, M., Narod, S., Royer, R., Costa, M. M., Lazaro, C., Feliubadaló, L., Graña, B., Blanco, I., de la Hoya, M., Caldés, T., Maillet, P., Benais-Pont, G., Pardo, B., Laitman, Y., Friedman, E., Velasco, E. A., Durán, M., Miramar, M., Valle, A. R., Calvo, M., Vega, A., Blanco, A., Diez, O., Gutiérrez-Enríquez, S., Balmaña, J., ramon cajal, T., Alonso, C., Baiget, M., Foulkes, W., Tischkowitz, M., Kyle, R., Sabbaghian, N., Ashton-Prolla, P., Ewald, I. P., Rajkumar, T., Mota-Vieira, L., Giannini, G., Gulino, A., Achatz, M. I., Carraro, D. M., de Paillerets, B. B., Remenieras, A., Benson, C., Casadei, S., King, M., Teugels, E. & Teixeira, M. R., 2011, In: Breast Cancer Research and Treatment. 127, 3, p. 671-9 9 p.

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

  20. Published

    Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis

    Joergensen, M. T., Geisz, A., Brusgaard, K., Schaffalitzky de Muckadell, O. B., Hegyi, P., Gerdes, Anne-Marie Axø & Sahin-Tóth, M., 2011, In: Pancreas. 40, 4, p. 540-6 7 p.

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

  21. Published

    Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

    Burn, J., Gerdes, A-M., Macrae, F., Mecklin, J-P., Moeslein, G., Olschwang, S., Eccles, D., Evans, D. G., Maher, E. R., Bertario, L., Bisgaard, S. M. L., Dunlop, M. G., Ho, J. W. C., Hodgson, S. V., Lindblom, A., Lubinski, J., Morrison, P. J., Murday, V., Ramesar, R., Side, L. & 14 others, Scott, R. J., Thomas, H. J. W., Vasen, H. F., Barker, G., Crawford, G., Elliott, F., Movahedi, M., Pylvanainen, K., Wijnen, J. T., Fodde, R., Lynch, H. T., Mathers, J. C., Bishop, D. T. & CAPP2 Investigators, C. I., 2011, In: Lancet. 378, 9809, p. 2081-7 7 p.

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

  22. Published

    Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1

    Goudie, D. R., D'Alessandro, M., Merriman, B., Lee, H., Szeverényi, I., Avery, S., O'Connor, B. D., Nelson, S. F., Coats, S. E., Stewart, A., Christie, L., Pichert, G., Friedel, J., Hayes, I., Burrows, N., Whittaker, S., Gerdes, A-M. A., Broesby-Olsen, S., Ferguson-Smith, M. A., Verma, C. & 3 others, Lunny, D. P., Reversade, B. & Lane, E. B., 2011, In: Nature Genetics. 43, 4, p. 365-9 5 p.

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

  23. Published

    Screening of 1331 Danish breast and/or ovarian cancer families identified 40 novel BRCA1 and BRCA2 mutations

    Hansen, T. V. O., Jønson, L., Steffensen, A. Y., Andersen, M. K., Kjaergaard, S., Gerdes, Anne-Marie Axø, Ejlertsen, B. & Nielsen, Finn Cilius, 2011, In: Familial Cancer. 10, 2, p. 207-12 6 p.

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

  24. Published

    A BRCA2 mutation incorrectly mapped in the original BRCA2 reference sequence, is a common West Danish founder mutation disrupting mRNA splicing

    Thomassen, M., Pedersen, I. S., Vogel, I., Hansen, T. V. O., Brasch-Andersen, C., Brasen, C. L., Crüger, D., Sunde, L. E. M., Nielsen, Finn Cilius, Jensen, U. B., Bisgaard, M. L., Borg, A., Gerdes, Anne-Marie Axø & Kruse, T. A., 1 Jul 2011, In: Breast Cancer Research and Treatment. 128, 1, p. 179-85 7 p.

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

  25. 2012
  26. Published

    A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

    Ding, Y. C., McGuffog, L., Healey, S., Friedman, E., Laitman, Y., Paluch-Shimon, S., Kaufman, B., Liljegren, A., Lindblom, A., Olsson, H., Kristoffersson, U., Stenmark-Askmalm, M., Melin, B., Domchek, S. M., Nathanson, K. L., Rebbeck, T. R., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K. & 31 others, Gronwald, J., Huzarski, T., Cybulski, C., Byrski, T., Osorio, A., Cajal, T. R., Stavropoulou, A. V., Benítez, J., Hamann, U., Rookus, M., Aalfs, C. M., de Lange, J. L., Meijers-Heijboer, H. E. J., Oosterwijk, J. C., van Asperen, C. J., Gómez García, E. B., Hoogerbrugge, N., Jager, A., van der Luijt, R. B., Easton, D. F., Peock, S., Frost, D., Ellis, S. D., Platte, R., Fineberg, E., Evans, D. G., Lalloo, F., Izatt, L., Eeles, R., Gerdes, Anne-Marie Axø & SWE-BRCA, S., 2012, In: Cancer Epidemiology, Biomarkers & Prevention. 21, 8, p. 1362-70 9 p.

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

  27. Published

    Awareness of endometrial cancer risk and compliance with screening in hereditary nonpolyposis colorectal cancer

    Ketabi, Z., Mosgaard, B. J., Gerdes, Anne-Marie Axø, Ladelund, S. & Bernstein, I. T., 2012, In: Obstetrics and Gynecology. 120, 5, p. 1005-12 8 p.

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

  28. Published

    Cancergenetik - arvelig disposition for cancer

    Gerdes, Anne-Marie Axø, 2012, Medicinsk genetik. Nørby, S. & Jensen, P. K. A. (eds.). 2 ed. København, p. 231-254

    Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research

  29. Published

    Clinical genetics in Denmark

    Gerdes, Anne-Marie Axø, 2012, In: BSHG News. 46, p. 61-62

    Research output: Contribution to journal › Journal article › Research

  30. Published

    Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

    Antoniou, A. C., Kuchenbaecker, K. B., Soucy, P., Beesley, J., Chen, X., McGuffog, L., Lee, A. R., Barrowdale, D., Healey, S., Sinilnikova, O. M., Caligo, M. A., Loman, N., Harbst, K., Lindblom, A., Arver, B., Rosenquist, R., Karlsson, P. W., Nathanson, K., Domchek, S., Rebbeck, T. & 31 others, Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Złowowcka-Perłowska, E., Osorio, A., Durán, M., Andrés, R., Benítez, J., Hamann, U., Hogervorst, F. B., van Os, T. A., Verhoef, S., Meijers-Heijboer, H. E. J., Wijnen, J., Gómez Garcia, E. B., Ligtenberg, M. J., Kriege, M., Collée, J. M., Ausems, M. G. E. M., Oosterwijk, J. C., Peock, S., Frost, D., Ellis, S. D., Platte, R., Fineberg, E., Evans, D. G., Lalloo, F., Nielsen, Finn Cilius, Gerdes, Anne-Marie Axø & CIMBA, SWE-BRCA, C. S., 2012, In: Breast Cancer Research (Online Edition). 14, 1, p. R33

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

  31. Published

    Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

    Couch, F. J., Gaudet, M. M., Antoniou, A. C., Ramus, S. J., Kuchenbaecker, K. B., Soucy, P., Beesley, J., Chen, X., Wang, X., Kirchhoff, T., McGuffog, L., Barrowdale, D., Lee, A. R., Healey, S., Sinilnikova, O. M., Andrulis, I. L., Ozcelik, H., Mulligan, A. M., Thomassen, M., Gerdes, A-M. & 31 others, Jensen, U. B., Skytte, A., Kruse, T. A., Caligo, M. A., von Wachenfeldt, A., Barbany-Bustinza, G., Loman, N., Soller, M., Ehrencrona, H., Karlsson, P. W., Nathanson, K. L., Rebbeck, T. R., Domchek, S. M., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Zlowocka, E., Huzarski, T., Byrski, T., Gronwald, J., Cybulski, C., Górski, B., Osorio, A., Durán, M., Tejada, M. I., Benitez, J., Hamann, U., Hogervorst, F. B. L., Nielsen, Finn Cilius & OCGN, O., 2012, In: Cancer Epidemiology, Biomarkers & Prevention. 21, 4, p. 645-57 13 p.

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

  32. Published

    Genetiske fund giver nye muligheder for udredning af arveligt malignt melanom

    Wadt, K. A. W., Drzewiecki, K. T. & Gerdes, Anne-Marie Axø, 2012, In: Ugeskrift for Laeger. 174, 8, p. 493-7 5 p.

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

  33. Published

    Is the SPINK1 variant p.N34S overrepresented in patients with acute pancreatitis?

    Jøergensen, M. T., Brusgaard, K., Novovic, S., Andersen, A. M., Hansen, M. B., Gerdes, Anne-Marie Axø & de Muckadell, O. B. S., 2012, In: European Journal of Gastroenterology and Hepatology. 24, 3, p. 309-15 7 p.

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

  34. Published

    Klinisk genetik

    Skovby, F., Gerdes, Anne-Marie Axø & Hertz, J. M., 2012, Basisbog i diagnostiske fag. Thomsen, H. S. (ed.). 1 ed. København, p. 167-196

    Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research

  35. Published

    Novel germline c-MET mutation in a family with hereditary papillary renal carcinoma

    Wadt, K., Gerdes, Anne-Marie Axø, Hansen, T. V. O., Toft, B. G., Friis-Hansen, L. & Andersen, M. K., 2012, In: Familial Cancer. 11, 3, p. 535-7 3 p.

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

  36. Published

    Ny genteknologisk diagnostik af familiær gastrointestinal stromal tumor

    Wadt, K., Andersen, M. K., Hansen, T. V. O. & Gerdes, Anne-Marie Axø, 2012, In: Ugeskrift for Laeger. 174, 21, p. 1462-4 3 p.

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

  37. Published

    Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

    Ramus, S. J., Antoniou, A. C., Kuchenbaecker, K. B., Soucy, P., Beesley, J., Chen, X., McGuffog, L., Sinilnikova, O. M., Healey, S., Barrowdale, D., Lee, A. R., Thomassen, M., Gerdes, A-M., Kruse, T. A., Jensen, U. B., Skytte, A-B., Caligo, M. A., Liljegren, A., Lindblom, A., Olsson, H. & 31 others, Kristoffersson, U., Stenmark-Askmalm, M., Melin, B., Domchek, S. M., Nathanson, K. L., Rebbeck, T. R., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Złowocka, E., Gronwald, J., Huzarski, T., Byrski, T., Cybulski, C., Toloczko-Grabarek, A., Osorio, A., Benitez, J., Duran, M., Tejada, M., Hamann, U., Rookus, M., van Leeuwen, F. E., Aalfs, C. M., Meijers-Heijboer, H. E. J., van Asperen, C. J., van Roozendaal, K. E. P., Hoogerbrugge, N., Collée, J. M., Kriege, M. & SWE-BRCA, S., 2012, In: Human Mutation. 33, 4, p. 690-702 13 p.

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

  38. Published

    Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

    Mavaddat, N., Barrowdale, D., Andrulis, I. L., Domchek, S. M., Eccles, D., Nevanlinna, H., Ramus, S. J., Spurdle, A., Robson, M., Sherman, M., Mulligan, A. M., Couch, F. J., Engel, C., McGuffog, L., Healey, S., Sinilnikova, O. M., Southey, M. C., Terry, M. B., Goldgar, D., O'Malley, F. & 31 others, John, E. M., Janavicius, R., Tihomirova, L., Hansen, T. V. O., Nielsen, Finn Cilius, Osorio, A., Stavropoulou, A., Benítez, J., Manoukian, S., Peissel, B., Barile, M., Volorio, S., Pasini, B., Dolcetti, R., Putignano, A. L., Ottini, L., Radice, P., Hamann, U., Rashid, M. U., Hogervorst, F. B., Kriege, M., van der Luijt, R. B., Peock, S., Frost, D., Evans, D. G., Brewer, C., Walker, L., Rogers, M. T., Side, L. E., Gerdes, Anne-Marie Axø & for HEBON, F. H., 2012, In: Cancer Epidemiology, Biomarkers & Prevention. 21, 1, p. 134-147 14 p.

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

  39. Published

    Multiple self-healing squamous epithelioma er en arvelig tilstand med selvhelende hudkræft

    Broesby-Olsen, S., Frandsen, S. K., Thomassen, M., Brandrup, F. & Gerdes, Anne-Marie Axø, 23 Apr 2012, In: Ugeskrift for Laeger. 174, 17, p. 1149-51 3 p.

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

  40. Published

    A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma.

    Wadt, K., Choi, J., Chung, J. Y., Kiilgaard, Jens Folke, Heegaard, Steffen, Drzewiecki, K. T. M., Trent, J. M., Hewitt, S. M., Hayward, N. K., Gerdes, Anne-Marie Axø & Brown, K. M., Nov 2012, In: Pigment Cell & Melanoma Research. 25, 6, p. 815-818 4 p.

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

  41. Published

    Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

    Mathers, J. C., Movahedi, M., Macrae, F., Mecklin, J-P., Moeslein, G., Olschwang, S., Eccles, D., Evans, G., Maher, E. R., Bertario, L., Bisgaard, S. M. L., Dunlop, M., Ho, J. W., Hodgson, S., Lindblom, A., Lubinski, J., Morrison, P. J., Murday, V., Ramesar, R., Side, L. & 14 others, Scott, R. J., Thomas, H. J., Vasen, H., Gerdes, Anne-Marie Axø, Barker, G., Crawford, G., Elliott, F., Pylvanainen, K., Wijnen, J., Fodde, R., Lynch, H., Bishop, D. T., Burn, J. & on behalf of the CAPP2 Investigators, O. B. O. T. C. I., Dec 2012, In: The Lancet Oncology. 13, 12, p. 1242-1249 8 p.

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

  42. 2013
  43. Published

    Classifications within molecular subtypes enables identification of BRCA1/BRCA2 mutation carriers by RNA tumor profiling

    Larsen, M. J., Kruse, T. A., Tan, Q., Lænkholm, Anne-Vibeke, Bak, M., Lykkesfeldt, A. E., Sørensen, K. P., Hansen, Thomas van Overeem, Ejlertsen, Bent Laursen, Gerdes, Anne-Marie Axø & Thomassen, M., 2013, In: P L o S One. 8, 5, 12 p., e64268.

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

  44. Published

    Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients

    Petersen, S. M., Dandanell, M., Rasmussen, Lene Juel, Gerdes, Anne-Marie Axø, Krogh, L. N., Bernstein, I., Okkels, H., Wikman, F., Nielsen, Finn Cilius & Hansen, Thomas van Overeem, 2013, In: BMC Medical Genetics. 14, p. 103

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

  45. Published

    Tamoxifen and Risk of Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers

    Phillips, K-A., Milne, R. L., Rookus, M. A., Daly, M. B., Antoniou, A. C., Peock, S., Frost, D., Easton, D. F., Ellis, S., Friedlander, M. L., Buys, S. S., Andrieu, N., Noguès, C., Stoppa-Lyonnet, D., Bonadona, V., Pujol, P., McLachlan, S. A., John, E. M., Hooning, M. J., Seynaeve, C. & 16 others, Tollenaar, R. A. E. M., Goldgar, D. E., Terry, M. B., Caldes, T., Weideman, P. C., Andrulis, I. L., Singer, C. F., Birch, K., Simard, J., Southey, M. C., Olsson, H. L., Jakubowska, A., Olah, E., Gerdes, Anne-Marie Axø, Foretova, L. & Hopper, J. L., 2013, In: Journal of Clinical Oncology. 31, 25, p. 3091-3099 9 p.

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

  46. Published

    Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

    Couch, F. J., Gerdes, Anne-Marie Axø, Nielsen, Finn Cilius & al., E., Mar 2013, In: P L o S Genetics. 9, 3, p. 1-21 21 p., e1003212.

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

  47. Published

    Genomsekventering – klinisk anvendelse

    Hertz, J. M., Gerdes, Anne-Marie Axø, Grønskov, K., Thomassen, M. & Vogel, I., 18 Mar 2013, In: Ugeskrift for Laeger. 175, 12, p. 818 1 p.

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

  48. Published

    Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

    Bojesen, S. E., Pooley, K. A., Johnatty, S. E., Beesley, J., Michailidou, K., Tyrer, J. P., Edwards, S. L., Pickett, H. A., Shen, H. C., Smart, C. E., Hillman, K. M., Mai, P. L., Lawrenson, K., Stutz, M. D., Lu, Y., Karevan, R., Woods, N., Johnston, R. L., French, J. D., Chen, X. & 31 others, Weischer, M., Nielsen, S. F., Maranian, M. J., Ghoussaini, M., Ahmed, S., Baynes, C., Bolla, M. K., Wang, Q., Dennis, J., McGuffog, L., Barrowdale, D., Lee, A. R., Healey, S., Lush, M., Tessier, D. C., Vincent, D., Bacot, F., Vergote, I., Lambrechts, S., Despierre, E., Risch, H. A., González-Neira, A., Rossing, M. A., Pita, G., Doherty, J. A., Alvarez, N., Nordestgaard, Børge, Engelholm, S. A., Høgdall, Claus Kim, Gerdes, Anne-Marie Axø & Australian Cancer Study, A. C. S., Apr 2013, In: Nature Genetics. 45, 4, p. 371-84, 384e1-2

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

  49. Published

    A BAP1 Mutation in a Danish Family Predisposes to Uveal Melanoma and Other Cancers

    Aoude, L. G., Wadt, K., Bojesen, A., Cr�ger, D. G., Borg, A., Trent, J. M., Brown, K. M., Gerdes, Anne-Marie Axø, Jönsson, G. & Hayward, N. K., Aug 2013, In: P L o S One. 8, 8, p. 1-5 5 p., e72144.

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

  50. Published

    Von Hippel-Lindau disease (vHL)

    Binderup, M. L. M., Bisgaard, S. M. L., Harbud, V., Møller, H. U., Gimsing, S., Friis-Hansen, Lennart Jan, Hansen, Thomas van Overeem, Bagi, P., Knigge, Ulrich, Kosteljanetz, M., Bøgeskov, L., Thomsen, C., Gerdes, Anne-Marie Axø, Ousager, L. B. & Sunde, L., Dec 2013, In: Danish Medical Journal. 60, 12, p. B4763

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

  51. 2014
  52. Published

    Hereditary breast cancer: clinical, pathological and molecular characteristics

    Larsen, M. J., Thomassen, M., Gerdes, Anne-Marie Axø & Kruse, T. A., 2014, In: Breast Cancer: Basic and Clinical Research. 8, p. 145-155 11 p.

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

  53. Published

    Is Colorectal Neoplasia Part of the Birt-Hogg-Dub Syndrome?

    Boman, P. S., Ousager, L. B., Friis-Hansen, L., Hansen, T. V. O., Broesby-Olsen, S. & Gerdes, Anne-Marie Axø, 2014, In: Journal of Gastroenterology and Hepatology Research. 3, 4, p. 1039-1042 4 p.

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

  54. Published

    RNA profiling reveals familial aggregation of molecular subtypes in non-BRCA1/2 breast cancer families

    Larsen, M. J., Thomassen, M., Tan, Q., Lænkholm, Anne-Vibeke, Bak, M., Sørensen, K. P., Andersen, M. K., Kruse, T. A. & Gerdes, Anne-Marie Axø, 2014, In: B M C Medical Genomics. 7, p. 9

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

  55. Published

    DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

    Osorio, A., Milne, R. L., Kuchenbaecker, K., Vaclová, T., Pita, G., Alonso, R., Peterlongo, P., Blanco, I., de la Hoya, M., Duran, M., Díez, O., Ramón Y Cajal, T., Konstantopoulou, I., Martínez-Bouzas, C., Andrés Conejero, R., Soucy, P., McGuffog, L., Barrowdale, D., Lee, A., Swe-Brca & 180 others, Arver, B., Rantala, J., Loman, N., Ehrencrona, H., Olopade, O. I., Beattie, M. S., Domchek, S. M., Nathanson, K., Rebbeck, T. R., Arun, B. K., Karlan, B. Y., Walsh, C., Lester, J., John, E. M., Whittemore, A. S., Daly, M. B., Southey, M., Hopper, J., Terry, M. B., Buys, S. S., Janavicius, R., Dorfling, C. M., van Rensburg, E. J., Steele, L., Neuhausen, S. L., Ding, Y. C., Hansen, T. V. O., Jønson, L., Ejlertsen, B., Gerdes, Anne-Marie Axø, Infante, M., Herráez, B., Moreno, L. T., Weitzel, J. N., Herzog, J., Weeman, K., Manoukian, S., Peissel, B., Zaffaroni, D., Scuvera, G., Bonanni, B., Mariette, F., Volorio, S., Viel, A., Varesco, L., Papi, L., Ottini, L., Tibiletti, M. G., Radice, P., Yannoukakos, D., Garber, J., Ellis, S., Frost, D., Platte, R., Fineberg, E., Evans, G., Lalloo, F., Izatt, L., Eeles, R., Adlard, J., Davidson, R., Cole, T., Eccles, D., Cook, J., Hodgson, S., Brewer, C., Tischkowitz, M., Douglas, F., Porteous, M., Side, L., Walker, L., Morrison, P., Donaldson, A., Kennedy, J., Foo, C., Godwin, A. K., Schmutzler, R. K., Wappenschmidt, B., Rhiem, K., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Plendl, H. J., Niederacher, D., Sutter, C., Wang-Gohrke, S., Steinemann, D., Preisler-Adams, S., Kast, K., Varon-Mateeva, R., Gehrig, A., Stoppa-Lyonnet, D., Sinilnikova, O. M., Mazoyer, S., Damiola, F., Poppe, B., Claes, K., Piedmonte, M., Tucker, K., Backes, F., Rodríguez, G., Brewster, W., Wakeley, K., Rutherford, T., Caldés, T., Nevanlinna, H., Aittomäki, K., Rookus, M. A., van Os, T. A. M., van der Kolk, L., de Lange, J. L., Meijers-Heijboer, H. E. J., van der Hout, A. H., van Asperen, C. J., Gómez Garcia, E. B., Hoogerbrugge, N., Collée, J. M., van Deurzen, C. H. M., van der Luijt, R. B., Devilee, P., Hebon, Olah, E., Lázaro, C., Teulé, A., Menéndez, M., Jakubowska, A., Cybulski, C., Gronwald, J., Lubinski, J., Durda, K., Jaworska-Bieniek, K., Johannsson, O. T., Maugard, C., Montagna, M., Tognazzo, S., Teixeira, M. R., Healey, S., Investigators, K., Olswold, C., Guidugli, L., Lindor, N., Slager, S., Szabo, C. I., Vijai, J., Robson, M., Kauff, N., Zhang, L., Rau-Murthy, R., Fink-Retter, A., Singer, C. F., Rappaport, C., Geschwantler Kaulich, D., Pfeiler, G., Tea, M., Berger, A., Phelan, C. M., Greene, M. H., Mai, P. L., Lejbkowicz, F., Andrulis, I., Mulligan, A. M., Glendon, G., Toland, A. E., Bojesen, A., Pedersen, I. S., Sunde, L., Thomassen, M., Kruse, T. A., Jensen, U. B., Friedman, E., Laitman, Y., Shimon, S. P., Simard, J., Easton, D. F., Offit, K., Couch, F. J., Chenevix-Trench, G., Antoniou, A. C. & Benitez, J., Apr 2014, In: P L o S Genetics. 10, 4, p. 1-12 12 p., e1004256.

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

  56. Published

    Prophylactic total gastrectomy in hereditary diffuse gastric cancer: identification of two novel CDH1 gene mutations-a clinical observational study

    Bardram, L., Hansen, T. V. O., Gerdes, Anne-Marie Axø, Timshel, S., Friis-Hansen, L. & Federspiel, B., Jun 2014, In: Familial Cancer. 13, 2, p. 231-242 12 p.

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

  57. Published

    CDKN2A-mutation hos en familie med arveligt malignt melanom

    Djursby, M., Wadt, K., Lorentzen, H., Borg, A., Gerdes, Anne-Marie Axø & Krogh, L., 29 Sep 2014, In: Ugeskrift for Laeger. 176, 40, p. 2-3 2 p.

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

  58. Published

    Functional characterization of BRCA1 gene variants by mini-gene splicing assay

    Steffensen, A. Y., Dandanell, M., Jønson, L., Ejlertsen, B., Gerdes, Anne-Marie Axø, Nielsen, Finn Cilius & Hansen, T. V., Dec 2014, In: European Journal of Human Genetics. 22, 12, p. 1362-1368 7 p.

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

  59. 2015
  60. Published

    An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

    Blein, S., Bardel, C., Danjean, V., McGuffog, L., Healey, S., Barrowdale, D., Lee, A., Dennis, J., Kuchenbaecker, K. B., Soucy, P., Terry, M. B., Chung, W. K., Goldgar, D. E., Buys, S. S., Janavicius, R., Tihomirova, L., Tung, N., Dorfling, C. M., van Rensburg, E. J., Neuhausen, S. L. & 31 others, Ding, Y. C., Gerdes, Anne-Marie Axø, Ejlertsen, B., Nielsen, Finn Cilius, Hansen, T. V., Osorio, A., Benitez, J., Conejero, R. A., Segota, E., Weitzel, J. N., Thelander, M., Peterlongo, P., Radice, P., Pensotti, V., Dolcetti, R., Bonanni, B., Peissel, B., Zaffaroni, D., Scuvera, G., Manoukian, S., Varesco, L., Capone, G. L., Papi, L., Ottini, L., Yannoukakos, D., Konstantopoulou, I., Garber, J., Hamann, U., Donaldson, A., Brady, A. & Breast Cancer Family Registry, B. C. F. R., 2015, In: Breast cancer research : BCR. 17, 1, p. 1-15 15 p., 61.

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

  61. Published

    Cowden Syndrome and Concomitant Pulmonary Neuroendocrine Tumor: A Presentation of Two Cases

    Langer, Seppo W., Ringholm, L., Dali, C. I., Petersen, René Horsleben, Rasmussen, Å. K., Gerdes, Anne-Marie Axø, Federspiel, B. & Knigge, Ulrich, 2015, In: Case Reports in Medicine. 2015, p. 1-4 4 p., 265786.

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

  62. 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. & 31 others, 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, Anne-Marie Axø, Ejlertsen, B., Jønson, L., Osorio, A., Martínez-Bouzas, C., Benitez, J. & EMBRACE, E., 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 journal › Journal article › Research › peer-review

  63. 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. & 31 others, 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, Anne-Marie Axø, 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., Jensen, A., Kjær, Susanne Krüger, Høgdall, Estrid Vilma Solyom, Høgdall, Claus Kim, Lundvall, L., Nedergaard, L., Gao, Y. & EMBRACE, E., Feb 2015, In: Nature Genetics. 47, 2, p. 164-71, 3 unpag. p. 11 p.

    Research output: Contribution to journal › Letter › Research › peer-review

  64. 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. & 19 others, Snowden, H., van Doorn, R., Montgomery, G. W., Martin, N. G., Keane, T. M., López-Otín, C., Gerdes, Anne-Marie Axø, 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: JNCI - Journal of the National Cancer Institute. 107, 2, p. 1-7 7 p., 408.

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

  65. Published

    Identification of a breast cancer family double heterozygote for RAD51C and BRCA2 gene mutations

    Ahlborn, L. B., Steffensen, A. Y., Jønson, L., Djursby, M., Nielsen, Finn Cilius, Gerdes, Anne-Marie Axø & Hansen, T. V. O., 18 Mar 2015, In: Familial Cancer. 14, 1, p. 129-133 5 p.

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

  66. Published

    Molecular Characterization of Melanoma Cases in Denmark Suspected of Genetic Predisposition

    Wadt, K. A. W., Aoude, L. G., Krogh, L., Sunde, L., Bojesen, A., Gronskov, K., Wartacz, N., Ek, J., Tolstrup-Andersen, M., Klarskov-Andersen, M., Borg, A., Heegaard, Steffen, Kiilgaard, Jens Folke, Hansen, T. V. O., Klein, K., Jonsson, G., Drzewiecki, K. T., Duno, M., Hayward, N. K. & Gerdes, Anne-Marie Axø, 24 Mar 2015, In: P L o S One. 10, 3, p. 1-16 16 p., e0122662.

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

  67. Published

    Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

    Blanco, I., Kuchenbaecker, K., Cuadras, D., Wang, X., Barrowdale, D., de Garibay, G. R., Librado, P., Sánchez-Gracia, A., Rozas, J., Bonifaci, N., McGuffog, L., Pankratz, V. S., Islam, A., Mateo, F., Berenguer, A., Petit, A., Català, I., Brunet, J., Feliubadaló, L., Tornero, E. & 31 others, Benítez, J., Osorio, A., Ramón y Cajal, T., Nevanlinna, H., Aittomäki, K., Arun, B. K., Toland, A. E., Karlan, B. Y., Walsh, C., Lester, J., Greene, M. H., Mai, P. L., Nussbaum, R. L., Andrulis, I. L., Domchek, S. M., Nathanson, K. L., Rebbeck, T. R., Barkardottir, R. B., Jakubowska, A., Lubinski, J., Durda, K., Jaworska-Bieniek, K., Claes, K., Van Maerken, T., Díez, O., Hansen, T. V., Jønson, L., Gerdes, Anne-Marie Axø, Ejlertsen, B., de la Hoya, M. & Teixeira, T., Apr 2015, In: P L o S One. 10, 4, p. 1-18 18 p., e0120020.

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

  68. 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. & 31 others, 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., Chung, W. K., Ejlertsen, Bent Laursen, Gerdes, Anne-Marie Axø & CIMBA Consortium, C. C., 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 journal › Journal article › Research › peer-review

  69. 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, Anne-Marie Axø, Jun 2015, In: Familial Cancer. 14, 2, p. 337-40 4 p.

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

  70. Published

    A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma

    Wadt, K. A. W., Aoude, L. G., Johansson, P., Solinas, A., Pritchard, A., Crainic, O., Andersen, M. T., Kiilgaard, J. F., Heegaard, S., Sunde, L., Federspiel, B., Madore, J., Thompson, J. F., McCarthy, S. W., Goodwin, A., Tsao, H., Jönsson, G., Busam, K., Gupta, R., Trent, J. M. & 4 others, Gerdes, Anne-Marie Axø, Brown, K. M., Scolyer, R. A. & Hayward, N. K., Sep 2015, In: Clinical Genetics. 88, 3, p. 267-272 6 p.

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

  71. 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. & 31 others, Cabaret, O., Svrcek, M., Vidaud, D., Parfait, B., Verloes, A., Knappe, U. J., Soubrier, F., Mortemousque, I., Leis, A., Auclair-Perrossier, J., Frébourg, T., Fléjou, J., Entz-Werle, N., Leclerc, J., Malka, D., Cohen-Haguenauer, O., Goldberg, Y., Gerdes, Anne-Marie Axø, 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”, E. C. “. F. C., Oct 2015, In: Gastroenterology. 149, 4, p. 1017-29.e3 16 p.

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

  72. Published

    High accuracy of family history of melanoma in Danish melanoma cases

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

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

  73. 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, Anne-Marie Axø, 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 journal › Journal article › Research › peer-review

  74. 2016
  75. 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. & 31 others, 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., van Rensburg, E. J., Godwin, A. K., Bojesen, Stig Egil, Gerdes, Anne-Marie Axø, Kjær, Susanne Krüger, Høgdall, Claus Kim, Høgdall, Estrid Vilma Solyom & EMBRACE, E., 2016, In: JNCI - Journal of the National Cancer Institute. 108, 2, 10 p., djv315.

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

  76. 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, Jens Folke, Heegaard, Steffen, Isaacs, T., Franchina, M., Ingvar, C., Vermeulen, T., Whitehead, K. J., Schmidt, C. W., Palmer, J. M., Symmons, J., Gerdes, Anne-Marie Axø, Jönsson, G. & Hayward, N. K., 2016, In: OncoTarget. 7, 4, p. 4624-31 8 p.

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

  77. 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. & 126 others, 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. D., Evans, D. G., Feliubadaló, 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, Anne-Marie Axø, 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, K., 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., 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., Teixeira, M. R., Teo, S., Terry, M., 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. P. D., Chenevix-Trench, G. & Antoniou, A. C., 2016, In: PLoS ONE. 11, 7, 19 p., e0158801.

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

  78. Published

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

    Bennedbæk, M., Rossing, M., Rasmussen, Å. K., Gerdes, Anne-Marie Axø, Skytte, A., Jensen, U. B., Nielsen, Finn Cilius & Hansen, T. V. O., 2016, In: Hereditary Cancer in Clinical Practice. 14, p. 1-7 7 p., 13.

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

  79. 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. B., Andrulis, I. L., Anton-Culver, H., Arndt, V., Arun, B. K., Arver, B., Barile, M., Barkardottir, R. B., Barrowdale, D. & 229 others, Beckmann, L., Beckmann, M. W., Benitez, J., Blank, S. V., Blomqvist, C., Bogdanova, N. V., Bojesen, Stig Egil, Bolla, M. K., Bonanni, B., Brauch, H., Brenner, H., Burwinkel, B., Buys, 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. D., Fasching, P. A., Figueroa, J., Flesch-Janys, D., Försti, A., Fostira, F., Foulkes, W. D., Friebel, T. M., Friedman, E., Frost, D., Gabrielson, M., Gammon, M. D., Ganz, P. A., Gapstur, S. M., Garber, J., Gaudet, M., Gayther, S. A., Gerdes, Anne-Marie Axø, Ghoussaini, M., Giles, G., Glendon, G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Greene, M. H., Gronwald, J., Guénel, P., Gunter, M. J., Haeberle, L., Haiman, C. A., Hamann, U., Hansen, T. V. O., Hart, S. N., 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., Kibriya, M. G., Knight, J. A., Ko, Y., Konstantopoulou, I., Kosma, V., 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, Børge, 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. L., Robson, M., Romieu, I., Rudolph, A., Rutgers, E. J., Sánchez, M., Santella, R. M., Sawyer, E. J., Schmidt, D. F., Schmidt, M. K., Schmutzler, R. K., Schumacher, F., Scott, R. J., 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., 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. S., 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. P. D., Monteiro, A. N. A., García-Closas, M., Easton, D. F. & Antoniou, A. C., 2016, In: Nature Communications. 7, p. 1-13 13 p., 11375.

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

  80. Published

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

    Jøergensen, M. T., Gerdes, Anne-Marie Axø, Sørensen, J., Schaffalitzky de Muckadell, O. & Mortensen, M. B., 2016, In: Pancreatology. 16, 4, p. 584-92 9 p.

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

  81. 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, Anne-Marie Axø, Brown, K. M., Hayward, N. K., Newton-Bishop, J. A., Adams, D. J. & Bishop, D. T., Jan 2016, In: Familial Cancer. 15, 1, p. 139-44 6 p.

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

  82. Published

    Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer

    Jønson, L., Ahlborn, L. B., Steffensen, A. Y., Djursby, M., Ejlertsen, B., Timshel, S., Nielsen, Finn Cilius, Gerdes, Anne-Marie Axø & Hansen, T. V. O., Jan 2016, In: Breast Cancer Research and Treatment. 155, 2, p. 215-22 8 p.

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

  83. 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. & 31 others, 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., Ruddy, K. J., Sharma, P., Gerdes, Anne-Marie Axø & kConFab Investigators, K. I., 9 Feb 2016, In: Breast Cancer Research (Online). 18, 13 p., 15.

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

  84. 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, Anne-Marie Axø, Bojesen, A. & Ousager, L. B., May 2016, In: International Journal of Colorectal Disease. 31, 5, p. 997-1004 8 p.

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

  85. 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. & 31 others, 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, Stig Egil, Bolla, M. K., Bonanni, B., Brand, J. S., Brauch, H., Brenner, H., Brinton, L., Brooks-Wilson, A., Bruinsma, F., Brunet, J., Gerdes, Anne-Marie Axø, Høgdall, Claus Kim, Høgdall, Estrid Vilma Solyom, Kjær, Susanne Krüger, Nielsen, Finn Cilius, Nordestgaard, Børge & Ovarian Cancer Association Consortium, Breast Cancer Association Consortium, and Consortium of Modifiers of BRCA1 and BRCA2, O. C. A. C. B. C. A. C. A. C. O. M. O. B. A. B., May 2016, In: Gynecologic Oncology. 141, 2, p. 386–401

    Research output: Contribution to journal › Review › Research › peer-review

  86. 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. & 27 others, 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, G. C., May 2016, In: Journal of Investigative Dermatology. 136, 5, p. 1066-1069 4 p.

    Research output: Contribution to journal › Comment/debate › Research

  87. 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. & 18 others, Tucker, K., Poplawski, N. K., Varesco, L., Bonelli, L. A., Buys, S. S., Mitchell, G., Tischkowitz, M., Gerdes, Anne-Marie Axø, 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. 319-327 9 p.

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

  88. 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, Anne-Marie Axø, Brusgaard, K. & Ousager, L. B., Jul 2016, In: Clinical Genetics. 90, 1, p. 55-62 8 p.

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

  89. Published

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

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

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

  90. 2017
  91. Published

    Fordele og ulemper ved forbrugergenetik

    Christiansen, C. W. & Gerdes, Anne-Marie Axø, 2017, In: Ugeskrift for Laeger. 179, 11, 4 p., V12160896.

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

  92. Published

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

    Rossing, M., Albrechtsen, Anders, Skytte, A., Jensen, U. B., Ousager, L. B., Gerdes, Anne-Marie Axø, Nielsen, Finn Cilius & Hansen, T. V. O., 2017, In: Journal of Human Genetics. 62, p. 151-157 7 p.

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

  93. 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., ABCTB Investigators, Adams, M., Adlard, J. & 27 others, 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., Bojesen, Stig Egil, Gerdes, Anne-Marie Axø, Lænkholm, Anne-Vibeke, Nordestgaard, Børge, Schmidt, M. K., Antoniou, A. C. & Simard, J., 2017, In: Nature Genetics. 49, 12, p. 1767-1778

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

  94. 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., Azzollini, J., Arun, B. K., Bane, A., Barjhoux, L., Barrowdale, D., Benitez, J., Berthet, P., Blok, M. J., Bobolis, K. A. & 34 others, Bonadona, V., Bonanni, B., Bradbury, A. R., Brewer, C., Buecher, B., Buys, 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., EMBRACE, E., Engel, C., Gareth Evans, D., Feliubadaló, L., Foretova, L., Fostira, F., Gerdes, Anne-Marie Axø, Easton, D. F., Antoniou, A. C. & Simard, J., Jan 2017, In: Breast Cancer Research and Treatment. 161, 1, p. 117-134 18 p.

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

  95. 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. & 31 others, 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., Benitez, J., Bermisheva, M., Bernardini, M. Q., Birrer, M. J., Bjorge, L., Gerdes, Anne-Marie Axø, Høgdall, Claus Kim, Høgdall, Estrid Vilma Solyom, Kjær, Susanne Krüger & AOCS Study Group, A. S. G., May 2017, In: Nature Genetics. 49, 5, p. 680-691

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

  96. Published

    Classification of the spliceogenic BRAC1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier

    Byrjalsen, A., Steffensen, A. Y., Hansen, T. V. O., Wadt, K. & Gerdes, Anne-Marie Axø, Jun 2017, In: Clinical Case Reports. 5, 6, p. 876-879 4 p.

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

  97. 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., McGuffog, L., Evans, D. G., Barrowdale, D., Frost, D., Adlard, J. & 31 others, Ong, K., Izatt, L., Tischkowitz, M., Eeles, R., Davidson, R., Hodgson, S., Ellis, S., Nogues, C., Lasset, C., Stoppa-Lyonnet, D., Fricker, J., 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., Gerdes, Anne-Marie Axø & BRCA1 and BRCA2 Cohort Consortium, B. A. B. C. C., 20 Jun 2017, In: J A M A: The Journal of the American Medical Association. 317, 23, p. 2402-2416 15 p.

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

  98. Published

    Blocking protein quality control to counter hereditary cancers

    Kampmeyer, Caroline, Nielsen, S. V., Bjørnkjær, Lene, Stein, Amelie, Gerdes, Anne-Marie Axø, Lindorff-Larsen, Kresten & Hartmann-Petersen, Rasmus, Dec 2017, In: Genes, Chromosomes & Cancer. 56, 12, p. 823-831 9 p.

    Research output: Contribution to journal › Review › Research › peer-review

  99. 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. & 25 others, 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, G. S. G., Dec 2017, In: The Journal of Investigative Dermatology. 137, 12, p. 2606-2612 7 p.

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

  100. 2018
  101. Published

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

    Soenderstrup, I. M. H., Lænkholm, Anne-Vibeke, Jensen, M. B., Eriksen, J. O., Gerdes, Anne-Marie Axø, 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

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

  102. Published

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

    Stoltze, U., Skytte, A., Roed, H., Hasle, H., Ejlertsen, B., Overeem Hansen, T. V., Schmiegelow, Kjeld, Gerdes, Anne-Marie Axø & Wadt, K., 2018, In: PLoS ONE. 13, 1, 11 p., e0190050.

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

  103. Published

    En familie med nedarvet DICER1-mutation

    Altaraihi, M., Pedersen, J., Rossing, M., Gerdes, Anne-Marie Axø & Wadt, K., 2018, In: Ugeskrift for Laeger. 180, 25, 2 p., V01180063.

    Research output: Contribution to journal › Letter › Research › peer-review

  104. Published

    Is DBCG abreast of new developments?

    Offersen, B. V., Ejlertsen, B., Balslev, E., Flyger, H., Gerdes, Anne-Marie Axø, Hansen, M. K., Hølmich, Lisbet Rosenkrantz, Jensen, M., Kristensen, B., Lænkholm, Anne-Vibeke, Mouridsen, H. T., Nielsen, M. H., Overgaard, J., Tuxen, M., Vejborg, I. & Christiansen, P., 2018, In: Acta Oncologica. 57, 1, p. 1-2 2 p.

    Research output: Contribution to journal › Editorial › Research

  105. Published

    Kræftdisponerende mutationer er hyppige hos børn og unge med kræft

    Stoltze, U. K., Byrjalsen, A., Hjalgrim, L. L., Wahlberg, A., Gupta, R., Gerdes, Anne-Marie Axø, Wadt, K. & Schmiegelow, Kjeld, 2018, In: Ugeskrift for Laeger. 180, 17, 6 p., V07170566.

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

  106. Published

    Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

    EMBRACE, E., 2018, In: Human Mutation. 39, 5, p. 593-620 28 p.

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

  107. Published

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

    Byrjalsen, A., Stoltze, U., Wadt, K., Hjalgrim, L. L., Gerdes, Anne-Marie Axø, Schmiegelow, Kjeld & Wahlberg, Ayo, 2018, In: European Journal of Cancer Care. 27, 6, p. 1-11 11 p., e12877.

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

  108. 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. & 20 others, 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 journal › Journal article › Research › peer-review

  109. 2019
  110. Published

    A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?

    Altaraihi, M., Wadt, Karin Anna Wallentin, Ek, J., Gerdes, Anne-Marie Axø & Østergaard, Elsebet, 2019, In: Human Genome Variation. 6, 1, 10.

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

  111. Published

    A new family with a homozygous nonsense variant in NTHL1 further delineated the clinical phenotype of NTHL1-associated polyposis

    Altaraihi, M., Gerdes, Anne-Marie Axø & Wadt, Karin Anna Wallentin, 2019, In: Human Genome Variation. 6, 3 p., 46.

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

  112. Published

    Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome

    Abildgaard, A. B., Stein, Amelie, Nielsen, S. V., Schultz-Knudsen, Katrine, Papaleo, E., Shrikhande, A., Hoffmann, Eva, Bernstein, I., Gerdes, Anne-Marie Axø, Takahashi, M., Ishioka, C., Lindorff-Larsen, Kresten & Hartmann-Petersen, Rasmus, 2019, In: eLife. 8, 28 p., e49138 .

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

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