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Anne-Marie Axø Gerdes

  • Blegdamsvej 9, 2100 København Ø

20002019

Research activity per year

Search results

  • 2019

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

    Abildgaard, A. B., Stein, A., Nielsen, S. V., Schultz-Knudsen, K., Papaleo, E., Shrikhande, A., Hoffmann, E. R., Bernstein, I., Gerdes, A.-M., Takahashi, M., Ishioka, C., Lindorff-Larsen, K. & Hartmann-Petersen, R., Nov 2019, In: eLife. 8, 28 p., e49138 .

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

    10 Citations (Scopus)
    5 Downloads (Pure)

  • 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. & Lænkholm, A. V., 4 Mar 2019, In: Acta Oncologica. 58, 3, p. 363-370 8 p.

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

    8 Citations (Scopus)

  • 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

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

    21 Citations (Scopus)
  • 2018

    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., 2 Jan 2018, In: Acta Oncologica. 57, 1, p. 95-101

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

    9 Citations (Scopus)

  • 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., Jan 2018, In: PLoS ONE. 13, 1, 11 p., e0190050.

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

    1 Citation (Scopus)
    43 Downloads (Pure)

  • En familie med nedarvet DICER1-mutation

    Translated title of the contribution: A family with a congenital DICER1 mutationAltaraihi, M., Pedersen, J., Rossing, M., Gerdes, A.-M. & Wadt, K., 2018, In: Ugeskrift for Laeger. 180, 25, 2 p., V01180063.

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

  • 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., Lænkholm, A.-V., Mouridsen, H. T., Nielsen, M. H., Overgaard, J., Tuxen, M., Vejborg, I. & Christiansen, P., 2 Jan 2018, In: Acta Oncologica. 57, 1, p. 1-2 2 p.

    Research output: Contribution to journal › Editorial

    1 Citation (Scopus)

  • Kræftdisponerende mutationer er hyppige hos børn og unge med kræft

    Translated title of the contribution: Germ line mutations causing paediatric cancer predisposition syndromes are common in children and adolescents with cancerStoltze, U. K., Byrjalsen, A., Hjalgrim, L. L., Wahlberg, A., Gupta, R., Gerdes, A.-M., Wadt, K. & Schmiegelow, K., 2018, In: Ugeskrift for Laeger. 180, 17, 6 p., V07170566.

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

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

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

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

    100 Citations (Scopus)

  • 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. 1-11 11 p., e12877.

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

    6 Citations (Scopus)
    4 Downloads (Pure)

  • 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., Jan 2018, In: Journal of Medical Genetics. 55, 1, p. 15-20

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

    27 Citations (Scopus)
  • 2017

    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, Engel, C., Gareth Evans, D., Feliubadaló, L., Foretova, L., Fostira, F., Gerdes, A.-M., Easton, D. F., Antoniou, A. C. & Simard, J., 1 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

    12 Citations (Scopus)
    76 Downloads (Pure)

  • Blocking protein quality control to counter hereditary cancers

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

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

    10 Citations (Scopus)

  • 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, A.-M., Jun 2017, In: Clinical Case Reports. 5, 6, p. 876-879 4 p.

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

    39 Downloads (Pure)

  • Fordele og ulemper ved forbrugergenetik

    Translated title of the contribution: Advantages and disadvantages of direct-to-consumer genetic testsChristiansen, C. W. & Gerdes, A.-M. A., 2017, In: Ugeskrift for Laeger. 179, 11, 4 p., V12160896.

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

    1 Citation (Scopus)

  • 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. A., Nielsen, F. C. & Hansen, T. V. O., 1 Feb 2017, In: Journal of Human Genetics. 62, p. 151-157 7 p.

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

    8 Citations (Scopus)

  • 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, 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

    9 Citations (Scopus)

  • 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, A.-M., Høgdall, C. K., Høgdall, E., Kjaer, S. K. & AOCS Study Group, 1 May 2017, In: Nature Genetics. 49, 5, p. 680-691

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

    118 Citations (Scopus)

  • 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, S. E., Gerdes, A.-M., Lænkholm, A.-V., Nordestgaard, B. G., Schmidt, M. K., Antoniou, A. C. & Simard, J., 1 Dec 2017, In: Nature Genetics. 49, 12, p. 1767-1778

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

    118 Citations (Scopus)

  • 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.-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., Gerdes, A.-M. & BRCA1 and BRCA2 Cohort Consortium, 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

    785 Citations (Scopus)
  • 2016

    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, A.-M., Seynaeve, C., Robson, M., Kwong, A., Tung, N., Tessa, N., Domchek, S. M., Godwin, A. K., Rantala, J., Arver, B. & Friedman, E., 1 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

    13 Citations (Scopus)

  • 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, S. E., Gerdes, A.-M., Kjaer, S. K., Hogdall, C., Hogdall, E. & EMBRACE, 1 Feb 2016, In: JNCI - Journal of the National Cancer Institute. 108, 2, 10 p., djv315.

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

    56 Citations (Scopus)

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

    Vergote, I., Banerjee, S., Gerdes, A.-M., van Asperen, C. J., Marth, C., Vaz, F., Ray-Coquard, I., Stoppa-Lyonnet, D., Gonzalez-Martin, A., Sehouli, J. & Colombo, N., 1 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

    32 Citations (Scopus)

  • 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., 2016, In: OncoTarget. 7, 4, p. 4624-31 8 p.

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

    130 Citations (Scopus)

  • 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., 1 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

    5 Citations (Scopus)

  • 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, 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, 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.-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. P. D., Chenevix-Trench, G. & Antoniou, A. C., Jul 2016, In: PLoS ONE. 11, 7, 19 p., e0158801.

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

    7 Citations (Scopus)
    70 Downloads (Pure)

  • 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., 1 Jan 2016, In: Familial Cancer. 15, 1, p. 139-44 6 p.

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

    25 Citations (Scopus)

  • 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., 8 Jun 2016, In: Hereditary Cancer in Clinical Practice. 14, p. 1-7 7 p., 13.

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

    11 Citations (Scopus)

  • 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, S. E., 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, A.-M., 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.-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. L., Robson, M., Romieu, I., Rudolph, A., Rutgers, E. J., Sánchez, M.-J., 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.-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. 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., 27 Apr 2016, In: Nature Communications. 7, p. 1-13 13 p., 11375.

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

    55 Citations (Scopus)

  • 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, F. C., Gerdes, A.-M. & Hansen, T. V. O., 1 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

    15 Citations (Scopus)

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

    Jøergensen, M. T., Gerdes, A.-M., Sørensen, J., Schaffalitzky de Muckadell, O. & Mortensen, M. B., 1 Jul 2016, In: Pancreatology. 16, 4, p. 584-92 9 p.

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

    17 Citations (Scopus)

  • 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., 1 Jul 2016, In: Clinical Genetics. 90, 1, p. 55-62 8 p.

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

    17 Citations (Scopus)

  • 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, A.-M. & kConFab Investigators, 9 Feb 2016, In: Breast Cancer Research (Online). 18, 13 p., 15.

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

    46 Citations (Scopus)
    57 Downloads (Pure)

  • 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, S. E., Bolla, M. K., Bonanni, B., Brand, J. S., Brauch, H., Brenner, H., Brinton, L., Brooks-Wilson, A., Bruinsma, F., Brunet, J., Gerdes, A.-M., Høgdall, C. K., Høgdall, E., Kjaer, S. K., Nielsen, F. C., Nordestgaard, B. G. & Ovarian Cancer Association Consortium, Breast Cancer Association Consortium, and Consortium of Modifiers of BRCA1 and BRCA2, 1 May 2016, In: Gynecologic Oncology. 141, 2, p. 386–401

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

    10 Citations (Scopus)

  • 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, May 2016, In: Journal of Investigative Dermatology. 136, 5, p. 1066-1069 4 p.

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

    9 Citations (Scopus)
  • 2015

    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, A.-M., Ejlertsen, B., Nielsen, F. C., 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, 25 Apr 2015, In: Breast cancer research : BCR. 17, 1, p. 1-15 15 p., 61.

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

    20 Citations (Scopus)

  • 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, A.-M., Brown, K. M., Scolyer, R. A. & Hayward, N. K., 1 Sept 2015, In: Clinical Genetics. 88, 3, p. 267-272 6 p.

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

    62 Citations (Scopus)

  • 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, A.-M., Ejlertsen, B., de la Hoya, M. & Teixeira, 1 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

    17 Citations (Scopus)

  • 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, B., Gerdes, A.-M. & 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 journal › Journal article › Research › peer-review

    245 Citations (Scopus)

  • 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, A.-M., Ejlertsen, B., Jønson, L., Osorio, A., Martínez-Bouzas, C., Benitez, J. & EMBRACE, 1 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

    16 Citations (Scopus)

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

    Langer, S. W., Ringholm, L., Dali, C. I., Petersen, R. H., Rasmussen, Å. K., Gerdes, A.-M., Federspiel, B. & Knigge, U. P., 2015, In: Case Reports in Medicine. 2015, p. 1-4 4 p., 265786.

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

    2 Citations (Scopus)

  • 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.-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”, 1 Oct 2015, In: Gastroenterology. 149, 4, p. 1017-29.e3 16 p.

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

    57 Citations (Scopus)

  • 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., 28 Jun 2015, In: Familial Cancer. 14, 2, p. 337-40 4 p.

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

    12 Citations (Scopus)

  • High accuracy of family history of melanoma in Danish melanoma cases

    Wadt, K. A. W., Drzewiecki, K. T. & Gerdes, A.-M., 21 Jun 2015, In: Familial Cancer. 14, 4, p. 609-13 5 p.

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

    4 Citations (Scopus)

  • 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, F. C., Gerdes, A.-M. & 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

    7 Citations (Scopus)

  • 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, 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., Jensen, A., Kjaer, S. K., Hogdall, E., Hogdall, C., Lundvall, L., Nedergaard, L., Gao, Y.-T. & EMBRACE, 1 Jan 2015, In: Nature Genetics. 47, 2, p. 164-71, 3 unpag. p. 11 p.

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

    154 Citations (Scopus)

  • 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, S., Kiilgaard, J. F., Hansen, T. V. O., Klein, K., Jonsson, G., Drzewiecki, K. T., Duno, M., Hayward, N. K. & Gerdes, A.-M., 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

    15 Citations (Scopus)

  • 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, 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., 1 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

    92 Citations (Scopus)

  • 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., 7 Aug 2015, In: Familial Cancer. 14, 4, p. 621-8 8 p.

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

    28 Citations (Scopus)
  • 2014

    CDKN2A-mutation hos en familie med arveligt malignt melanom

    Translated title of the contribution: CDKN2A-mutation in a family with hereditary malignant melanoma.Djursby, M., Wadt, K., Lorentzen, H., Borg, A., Gerdes, A.-M. & Krogh, L., 29 Sept 2014, In: Ugeskrift for Laeger. 176, 40, p. 2-3 2 p.

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

    2 Citations (Scopus)