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. 2023
  2. Published

    Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium

    EMBRACE Collaborators, E. C., Dec 2023, In: Breast Cancer Research. 25, 1, 13 p., 72.

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

  3. Published

    TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma

    Jensen, M. R., Jelsig, A. M., Gerdes, Anne-Marie Axø, Hølmich, Lisbet Rosenkrantz, mzt627, mzt627, Lorentzen, H. F., Hansen, M. H., Bak, M., Johansson, P. A., Hayward, N. K., Hansen, Thomas van Overeem & Wadt, Karin Anna Wallentin, 2023, In: Human Genetics and Genomics Advances. 4, 4, 12 p., 100225.

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

  4. Published

    Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants

    Stoltze, U. K., Hagen, C. M., Hansen, Thomas van Overeem, Byrjalsen, A., Gerdes, Anne-Marie Axø, Yakimov, V., Rasmussen, Simon, Bækvad-Hansen, M., Hougaard, D. M., Schmiegelow, Kjeld, Hjalgrim, Henrik, Wadt, Karin Anna Wallentin & Bybjerg-Grauholm, J., 2023, In: Genome Medicine. 15, 12 p., 17.

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

  5. Published

    Ethics in pre-ART genetics: a missed X-linked Menkes disease case

    Gerdes, Anne-Marie Axø, Møller, L. B. & Horn, N., 2023, In: Journal of Assisted Reproduction and Genetics. 40, 4, p. 811-816 6 p.

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

  6. Published

    Genetic predisposition & evolutionary traces of pediatric cancer risk: a prospective 5-year population-based genome sequencing study of children with CNS tumors

    Stoltze, U. K., Foss-Skiftesvik, J., Hansen, Thomas van Overeem, Byrjalsen, A., Sehested, A., Scheie, David, Mikkelsen, T. S., Rasmussen, Simon, Bak, M., Okkels, H., Callesen, M. T., Skjøth-Rasmussen, J., Gerdes, Anne-Marie Axø, Schmiegelow, Kjeld, Mathiasen, R. & Wadt, Karin Anna Wallentin, 2023, In: Neuro-Oncology. 25, 4, p. 761-773

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

  7. Published

    Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness

    Andersen, L. V. B., Larsen, M. J., Davies, H., Degasperi, A., Nielsen, H. R., Jensen, L. A., Kroeldrup, L., Gerdes, Anne-Marie Axø, Lænkholm, Anne-Vibeke, Kruse, T. A., Nik-Zainal, S. & Thomassen, M., 2023, In: Breast Cancer Research. 25, 1, 10 p., 69.

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

  8. Published

    PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants

    HEBON Investigators, H. I., 2023, In: npj Breast Cancer. 9, 1, 15 p., 37.

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

  9. Published

    The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification

    Byrjalsen, A., Stoltze, U., Mehrjouy, M., Frederiksen, J. H., Bak, M., Birkedal, U., Hasle, H., Gerdes, Anne-Marie Axø, Schmiegelow, Kjeld, Wadt, Karin Anna Wallentin & Hansen, Thomas van Overeem, 2023, In: Molecular Genetics and Genomic Medicine. 11, 10, 7 p., e2232.

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

  10. Published

    Update of penetrance estimates in Birt-Hogg-Dubé syndrome

    Bruinsma, F. J., Dowty, J. G., Win, A. K., Goddard, L. C., Agrawal, P., Attina', D., Bissada, N., De Luise, M., Eisen, D. B., Furuya, M., Gasparre, G., Genuardi, M., Gerdes, A. M., Hansen, T. V. O., Houweling, A. C., Johannesma, P. C., Lencastre, A., Lim, D., Lindor, N. M., Luzzi, V. & 20 others, Lynch, M., Maffé, A., Menko, F. H., Michels, G., Pulido, J. S., Ryu, J. H., Sattler, E. C., Steinlein, O. K., Tomassetti, S., Tucker, K., Turchetti, D., Van De Beek, I., Van Riel, L., Van Steensel, M., Zenone, T., Zompatori, M., Walsh, J., Bondavalli, D., Maher, E. R. & Winship, I. M., 2023, In: Journal of Medical Genetics. 60, 4, p. 317-326 10 p.

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

  11. 2022
  12. Published

    Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up

    the CAPP2 Investigators, T. C. I., 2022, In: Cancer Prevention Research. 15, 9, p. 623-634

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

  13. Published

    Clinical implications of genetic testing in familial intermediate and late-onset colorectal cancer

    Djursby, M., Hansen, Thomas van Overeem, Wadt, Karin Anna Wallentin, Madsen, M. B., Berchtold, L. A., Lautrup, C. K., Markholt, S., Jensen, U. B., Krogh, L. N., Lundsgaard, M., Gerdes, Anne-Marie Axø, Nilbert, Mef Christina & Therkildsen, C., 2022, In: Human Genetics. 141, p. 1925–1933

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

  14. Published

    Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

    The European Hereditary Tumour Group (EHTG) and the International Mismatch Repair Consortium (IMRC), T. E. H. T. G. (. A. T. I. M. R. C. (., 2022, In: Hereditary Cancer in Clinical Practice. 20, 36.

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

  15. Published

    Etik og jura

    Ousager, L. B., Gerdes, Anne-Marie Axø & Kristensen, K., 2022, Medicinsk genetik. FADL's Forlag, p. 477-500

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

  16. Published

    Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants

    ENIGMA Consortium, E. C. & CIMBA Consortium, C. C., 2022, In: Genetics in Medicine. 24, 1, p. 119-129 11 p.

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

  17. Published

    Whole genome sequencing identifies rare genetic variants in familial pancreatic cancer patients

    Tan, M., Brusgaard, K., Gerdes, Anne-Marie Axø, Larsen, M. J., Mortensen, M. B., Detlefsen, S., de Muckadell, O. B. S. & Joergensen, M. T., 2022, In: Annals of Human Genetics. 86, 4, p. 195-206 12 p.

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

  18. 2021
  19. Published

    Birth cohort-specific trends of sun-related behaviors among individuals from an international consortium of melanoma-prone families

    Lacson, J. C. A., Zamani, S. A., Froes, L. A. R., Mitra, N., Qian, L., Doyle, S. H., Azizi, E., Balestrini, C., Bishop, D. T., Bruno, W., Carlos-ortega, B., Cuellar, F., Cust, A. E., Elder, D. E., Gerdes, A., Ghiorzo, P., Grazziotin, T. C., Gruis, N. A., Hansson, J., Hočevar, M. & 18 others, Höiom, V., Holland, E. A., Ingvar, C., Landman, G., Larre-borges, A., Mann, G. J., Molgo, M., Moredo, L. F., Olsson, H., Out-luiting, J. J., Perić, B., Pjanova, D., Puig, S., Salas-alanis, J., Schmid, H., Wadt, Karin Anna Wallentin, Newton-bishop, J. A. & Kanetsky, P. A., 1 Dec 2021, In: BMC Public Health. 21, 1, 16 p.

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

  20. Published

    Cohort profile and heritability assessment of familial pancreatic cancer: a nation-wide study

    Tan, M., Brusgaard, K., Gerdes, Anne-Marie Axø, Mortensen, M. B., Detlefsen, S., Schaffalitzky De Muckadell, O. B. & Joergensen, M. T., 3 Aug 2021, In: Scandinavian Journal of Gastroenterology. 56, 8, p. 965-971 7 p.

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

  21. Published

    Tumour-infiltrating CD4-, CD8- and FOXP3-positive immune cells as predictive markers of mortality in BRCA1- and BRCA2-associated breast cancer

    Jørgensen, N., Hviid, Thomas Vauvert F., Nielsen, L. B., Sønderstrup, I. M. H., Eriksen, J. O., Ejlertsen, Bent Laursen, Gerdes, Anne-Marie Axø, Kruse, T. A., Thomassen, M., Jensen, M. & Lænkholm, Anne-Vibeke, Aug 2021, In: British Journal of Cancer. 125, p. 1388–1398

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

  22. Published

    Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study

    Epidemiological Study of Familial Breast Cancer, Gene Etude Prospective Sein Ovaire Sein, Hereditary Breast and Ovarian Cancer Research Group Netherlands, and International BRCA1/2 Carrier Cohort Study, E. S. O. F. B. C. G. E. P. S. O. S. H. B. A. O. C. R. G. N. A. I. B. C. C. S., Jul 2021, In: American Journal of Obstetrics and Gynecology. 225, 1, p. 51.e1-51.e17

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

  23. Published

    Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study

    The International Mismatch Repair Consortium, T. I. M. R. C., Jul 2021, In: The Lancet Oncology. 22, 7, p. 1014-1022 9 p.

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

  24. Published

    Direct to consumer genetic testing in Denmark—public knowledge, use, and attitudes

    Gerdes, Anne-Marie Axø, Nicolaisen, L., Husum, E., Andersen, J. B., Gantzhorn, M. D., Roos, L. & Diness, Birgitte Rode, May 2021, In: European Journal of Human Genetics. 29, 5, p. 851-860 10 p.

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

  25. Published

    Genetisk screening af adopterede raske individer

    Wriedt, T. R., Gerdes, Anne-Marie Axø, Roos, L. K., Hammer-Hansen, S., Christensen, M. B. & Diness, Birgitte Rode, 29 Mar 2021, In: Ugeskrift for Laeger. 183, 13, 7 p., V11200810.

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

  26. Published

    Genetisk screening af kommende forældre

    Smed, V. M., Petersen, Olav Bennike Bjørn, Gerdes, Anne-Marie Axø, Diness, Birgitte Rode & Roos, L. S., 29 Mar 2021, In: Ugeskrift for Laeger. 183, 13, 9 p., V12200933.

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

  27. Published

    Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel

    Byrjalsen, A., Diets, I. J., Bakhuizen, J., Hansen, Thomas van Overeem, Schmiegelow, Kjeld, Gerdes, Anne-Marie Axø, Stoltze, U., Kuiper, R. P., Merks, J. H. M., Wadt, Karin Anna Wallentin & Jongmans, M., 2021, In: Familial Cancer. 20, 4, p. 279-287 9 p.

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

  28. Published

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

    GEMO Study Collaborators, G. S. C., EMBRACE Collaborators, E. C., OCGN Investigators, O. I., HEBON Investigators, H. I. & kConFab Investigators, K. I., 2021, In: Genetics in Medicine. 23, 9, p. 1726-1737

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

  29. Published

    Whole genome sequencing identifies rare germline variants enriched in cancer related genes in firstdegree relatives of familial pancreatic cancer patients

    Tan, M., Brusgaard, K., Gerdes, Anne-Marie Axø, Mortensen, M. B., Detlefsen, S., Schaffalitzky de Muckadell, O. B. & Joergensen, M. T., 2021, In: Clinical Genetics. 100, 5, p. 551-562 12 p.

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

  30. 2020
  31. Published

    Breast cancer survival in Nordic BRCA2 mutation carriers-unconventional association with oestrogen receptor status

    Olafsdottir, E. J., Borg, A., Jensen, M., Gerdes, Anne-Marie Axø, Johansson, A. L. V., Barkardottir, R. B., Johannsson, O. T., Ejlertsen, Bent Laursen, Sønderstrup, I. M. H., Hovig, E., Lænkholm, Anne-Vibeke, Hansen, T. V. O., Olafsdottir, G. H., Rossing, M., Jonasson, J. G., Sigurdsson, S., Loman, N., Nilsson, M. P., Narod, S. A. & Tryggvadottir, L., Nov 2020, In: British Journal of Cancer. 123, 11, p. 1608-1615 8 p.

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

  32. Published

    Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

    Barnes, D. R., Rookus, M. A., Mcguffog, L., Leslie, G., Mooij, T. M., Dennis, J., Mavaddat, N., Adlard, J., Ahmed, M., Aittomäki, K., Andrieu, N., Andrulis, I. L., Arnold, N., Arun, B. K., Azzollini, J., Balmaña, J., Barkardottir, R. B., Barrowdale, D., Benitez, J., Berthet, P. & 31 others, Białkowska, K., Blanco, A. M., Blok, M. J., Bonanni, B., Boonen, S. E., Borg, Å., Bozsik, A., Bradbury, A. R., Brennan, P., Brewer, C., Brunet, J., Buys, S. S., Caldés, T., Caligo, M. A., Campbell, I., Christensen, L. L., Chung, W. K., Claes, K. B. M., Colas, C., Collonge-rame, M., Cook, J., Daly, M. B., Davidson, R., De La Hoya, M., De Putter, R., Delnatte, C., Devilee, P., Ejlertsen, Bent Laursen, Gerdes, Anne-Marie Axø, Nielsen, Finn Cilius & Consortium of Investigators of Modifiers of BRCA and BRCA2, C. O. I. O. M. O. B. A. B., 1 Oct 2020, In: Genetics in Medicine. 22, 10, p. 1653-1666 14 p.

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

  33. Published

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

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

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

  34. Published

    Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium

    Li, H., Terry, M. B., Antoniou, A. C., Phillips, K-A., Kast, K., Mooij, T. M., Engel, C., Noguès, C., Stoppa-Lyonnet, D., Lasset, C., Berthet, P., Mari, V., Caron, O., Barrowdale, D., Frost, D., Brewer, C., Evans, D. G., Izatt, L., Side, L., Walker, L. & 31 others, Tischkowitz, M., Rogers, M. T., Porteous, M. E., Snape, K., Meijers-Heijboer, H. E. J., Gille, J. J. P., Blok, M. J., Hoogerbrugge, N., Daly, M. B., Andrulis, I. L., Buys, S. S., John, E. M., McLachlan, S., Friedlander, M., Tan, Y. Y., Osorio, A., Caldes, T., Jakubowska, A., Simard, J., Singer, C. F., Olah, E., Navratilova, M., Foretova, L., Gerdes, Anne-Marie Axø, Roos-Blom, M., Arver, B., Olsson, H., Schmutzler, R. K., Hopper, J. L., Milne, R. L. & GENEPSO study, G. S., Feb 2020, In: Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. 29, 2, p. 368-378 11 p.

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

  35. Published

    Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers

    Mavaddat, N., Antoniou, A. C., Mooij, T. M., Hooning, M. J., Heemskerk-Gerritsen, B. A., Noguès, C., Gauthier-Villars, M., Caron, O., Gesta, P., Pujol, P., Lortholary, A., Barrowdale, D., Frost, D., Evans, D. G., Izatt, L., Adlard, J., Eeles, R., Brewer, C., Tischkowitz, M., Henderson, A. & 31 others, Cook, J., Eccles, D., van Engelen, K., Mourits, M. J. E., Ausems, M. G. E. M., Koppert, L. B., Hopper, J. L., John, E. M., Chung, W. K., Andrulis, I. L., Daly, M. B., Buys, S. S., Benitez, J., Caldes, T., Jakubowska, A., Simard, J., Singer, C. F., Tan, Y., Olah, E., Navratilova, M., Foretova, L., Gerdes, Anne-Marie Axø, Roos-Blom, M., Van Leeuwen, F. E., Arver, B., Olsson, H., Schmutzler, R. K., Engel, C., Kast, K., Phillips, K. & GENEPSO, G., 16 Jan 2020, In: Breast Cancer Research. 22, 1, 11 p., 8.

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

  36. Published

    A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families

    Djursby, M., Wadt, Karin Anna Wallentin, Frederiksen, J. H., Madsen, M. B., Berchtold, L. A., Hasselby, Jane Preuss, Willemoe, G. L., Hansen, T. V. O. & Gerdes, Anne-Marie Axø, 2020, In: Hereditary Cancer in Clinical Practice. 18, 1, 8.

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

  37. Published

    Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial

    Burn, J., Sheth, H., Elliott, F., Reed, L., Macrae, F., Mecklin, J. P., Möslein, G., McRonald, F. E., Bertario, L., Evans, D. G., Gerdes, A. M., Ho, J. W. C., Lindblom, A., Morrison, P. J., Rashbass, J., Ramesar, R., Seppälä, T., Thomas, H. J. W., Pylvänäinen, K., Borthwick, G. M. & 15 others, Mathers, J. C., Bishop, D. T., Boussioutas, A., Brewer, C., Cook, J., Eccles, D., Ellis, A., Hodgson, S. V., Lubinski, J., Maher, E. R., Porteous, M. E., Sampson, J., Scott, R. J., Side, L. & CAPP2 Investigators, C. I., 2020, In: The Lancet. 395, 10240, p. 1855-1863 9 p.

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

  38. Published

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

    Silvestri, V., Leslie, G., Barnes, D. R., Agnarsson, B. A., Aittomäki, K., Alducci, E., Andrulis, I. L., Barkardottir, R. B., Barroso, A., Barrowdale, D., Benitez, J., Bonanni, B., Borg, A., Buys, S. S., Caldés, T., Caligo, M. A., Capalbo, C., Campbell, I., Chung, W. K., Claes, K. B. M. & 103 others, Colonna, S. V., Cortesi, L., Couch, F. J., De La Hoya, M., Diez, O., Ding, Y. C., Domchek, S., Easton, D. F., Ejlertsen, Bent Laursen, Engel, C., Evans, D. G., Feliubadalò, L., Foretova, L., Fostira, F., Géczi, L., Gerdes, Anne-Marie Axø, Glendon, G., Godwin, A. K., Goldgar, D. E., Hahnen, E., Hogervorst, F. B. L., Hopper, J. L., Hulick, P. J., Isaacs, C., Izquierdo, A., James, P. A., Janavicius, R., Jensen, U. B., John, E. M., Joseph, V., Konstantopoulou, I., Kurian, A. W., Kwong, A., Landucci, E., Lesueur, F., Loud, J. T., Machackova, E., Mai, P. L., Majidzadeh-A, K., Manoukian, S., Montagna, M., Moserle, L., Mulligan, A. M., Nathanson, K. L., Nevanlinna, H., Ngeow Yuen Ye, J., Nikitina-Zake, L., Offit, K., Olah, E., Olopade, O. I., Osorio, A., Papi, L., Park, S. K., Pedersen, I. S., Perez-Segura, P., Petersen, A. H., Pinto, P., Porfirio, B., Pujana, M. A., Radice, P., Rantala, J., Rashid, M. U., Rosenzweig, B., Rossing, M., Santamariña, M., Schmutzler, R. K., Senter, L., Simard, J., Singer, C. F., Solano, A. R., Southey, M. C., Steele, L., Steinsnyder, Z., Stoppa-Lyonnet, D., Tan, Y. Y., Teixeira, M. R., Teo, S. H., Terry, M. B., Thomassen, M., Toland, A. E., Torres-Esquius, S., Tung, N., Van Asperen, C. J., Vega, A., Viel, A., Vierstraete, J., Wappenschmidt, B., Weitzel, J. N., Wieme, G., Yoon, S. Y., Zorn, K. K., Mcguffog, L., Parsons, M. T., Hamann, U., Greene, M. H., Kirk, J. A., Neuhausen, S. L., Rebbeck, T. R., Tischkowitz, M., Chenevix-Trench, G., Antoniou, A. C., Friedman, E. & Ottini, L., 2020, In: JAMA Oncology. 6, 8, p. 1218-1230

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

  39. Published

    Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high frequency of cancer prone syndromes

    Byrjalsen, A., Hansen, T. V. O., Stoltze, U. K., Mehrjouy, M. M., Barnkob, N. M., Hjalgrim, L. L., Mathiasen, R., Lautrup, C. K., Gregersen, P. A., Hasle, H., Wehner, P. S., Tuckuviene, R., Sackett, P. W., Laspiur, A. O., Rossing, M., Marvig, R. L., Tommerup, N., Olsen, T. E., Scheie, D., Gupta, R. & 3 others, Gerdes, Anne-Marie Axø, Schmiegelow, Kjeld & Wadt, Karin Anna Wallentin, 2020, In: PLOS Genetics. 16, 12, e1009231.

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

  40. Published

    New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients

    Djursby, M., Madsen, M. B., Frederiksen, J. H., Berchtold, L. A., Therkildsen, C., Willemoe, G. L., Hasselby, Jane Preuss, Wikman, F., Okkels, H., Skytte, A. B., Nilbert, Mef Christina, Wadt, Karin Anna Wallentin, Gerdes, Anne-Marie Axø & van Overeem Hansen, T., 2020, In: Frontiers in Genetics. 11, 566266.

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

  41. 2019
  42. Published

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

    Taylor, N. J., Mitra, N., Qian, L., Avril, M. F., Bishop, D. T., Bressac-de Paillerets, B., Bruno, W., Calista, D., Cuellar, F., Cust, A. E., Demenais, F., Elder, D. E., Gerdes, A. M., Ghiorzo, P., Goldstein, A. M., Grazziotin, T. C., Gruis, N. A., Hansson, J., Harland, M., Hayward, N. K. & 23 others, Hocevar, M., Höiom, V., Holland, E. A., Ingvar, C., Landi, M. T., Landman, G., Larre-Borges, A., Mann, G. J., Nagore, E., Olsson, H., Palmer, J. M., Perić, B., Pjanova, D., Pritchard, A. L., Puig, S., Schmid, H., van der Stoep, N., Tucker, M. A., Wadt, Karin Anna Wallentin, Yang, X. R., Newton-Bishop, J. A., Kanetsky, P. A. & GenoMEL Study Group, G. S. G., Aug 2019, In: Journal of the American Academy of Dermatology. 81, 2, p. 386-394

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

  43. Published

    Subtypes in BRCA-mutated breast cancer

    Sønderstrup, I. M. H., Jensen, M. R., Ejlertsen, Bent Laursen, Eriksen, J. O., Gerdes, Anne-Marie Axø, Kruse, T. A., Larsen, M. J., Thomassen, M. & Lænkholm, Anne-Vibeke, Feb 2019, In: Human Pathology. 84, p. 192-201 10 p.

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

  44. 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

  45. 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

  46. 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

  47. Published

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

    Sønderstrup, I. M. H., Jensen, M. B., Ejlertsen, Bent Laursen, Eriksen, J. O., Gerdes, Anne-Marie Axø, Kruse, T. A., Larsen, M. J., Thomassen, M. & Lænkholm, Anne-Vibeke, 2019, In: Acta Oncologica. 58, 3, p. 363-370 8 p.

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

  48. Published

    Exploring the hereditary background of renal cancer in Denmark

    Christensen, M. B., Wadt, Karin Anna Wallentin, Jensen, U. B., Lautrup, C. K., Bojesen, A., Krogh, L. N., Overeem Hansen, T. V. & Gerdes, Anne-Marie Axø, 2019, In: PLoS ONE. 14, 4, 16 p., e0215725.

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

  49. Published

    Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer - an European consensus statement and expert recommendations

    Singer, C. F., Balmaña, J., Bürki, N., Delaloge, S., Filieri, M. E., Gerdes, Anne-Marie Axø, Grindedal, E. M., Han, S., Johansson, O., Kaufman, B., Krajc, M., Loman, N., Olah, E., Paluch-Shimon, S., Plavetic, N. D., Pohlodek, K., Rhiem, K., Teixeira, M. & Evans, D. G., 2019, In: European Journal of Cancer. 106, p. 54-60 7 p.

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

  50. Published

    Genomisk medicin til præimplantations-, 
præ- og postnatal diagnostik

    Gerdes, Anne-Marie Axø, Risom, L., Kjærgaard, S. & Østergaard, Elsebet, 2019, In: Ugeskrift for Laeger. 181, 7A, 5 p., V11180756.

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

  51. Published

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

    Parsons, M. T., Tudini, E., Li, H., Hahnen, E., Wappenschmidt, B., Feliubadaló, L., Aalfs, C. M., Agata, S., Aittomäki, K., Alducci, E., Alonso-Cerezo, M. C., Arnold, N., Auber, B., Austin, R., Azzollini, J., Balmaña, J., Barbieri, E., Bartram, C. R., Blanco, A., Blümcke, B. & 31 others, Bonache, S., Bonanni, B., Borg, Å., Bortesi, B., Brunet, J., Bruzzone, C., Bucksch, K., Cagnoli, G., Caldés, T., Caliebe, A., Caligo, M. A., Calvello, M., Capone, G. L., Caputo, S. M., Carnevali, I., Carrasco, E., Caux-Moncoutier, V., Cavalli, P., Cini, G., Clarke, E. M., Concolino, P., Cops, E. J., Cortesi, L., Couch, F. J., Darder, E., de la Hoya, M., Dean, M., Gerdes, Anne-Marie Axø, Hansen, T. V. O., Wagner, S. A. & kConFab Investigators, K. I., 2019, In: Human Mutation. 40, 9, p. 1557-1578 22 p.

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

  52. Published

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

    Scheller, R., Stein, Amelie, Nielsen, S. V., Marin, F. I., Gerdes, Anne-Marie Axø, Di Marco, M., Papaleo, E., Lindorff-Larsen, Kresten & Hartmann-Petersen, Rasmus, 2019, In: Human Mutation. 40, 4, p. 444-457

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

  53. 2018
  54. 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

  55. 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

  56. 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

  57. 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

  58. 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

  59. 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

  60. 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

  61. 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

  62. 2017
  63. 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

  64. 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

  65. 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

  66. 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

  67. 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

  68. 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

  69. 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

  70. 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

  71. 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

  72. 2016
  73. 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

  74. 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

  75. 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

  76. 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

  77. 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

  78. 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

  79. 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

  80. 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

  81. 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

  82. 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

  83. 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

  84. 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

  85. 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

  86. 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

  87. 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

  88. 2015
  89. 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

  90. 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

  91. 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

  92. 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

  93. 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

  94. 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

  95. 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

  96. 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

  97. 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

  98. 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

  99. 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

  100. 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

  101. 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

  102. 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

  103. 2014
  104. 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

  105. 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

  106. 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

  107. 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

  108. 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

  109. 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

  110. 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

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ID: 19459833