Karin Anna Wallentin Wadt

Karin Anna Wallentin Wadt

Clinical Associate Professor

Member of:

  • Clinical Genetics


  1. 2024
  2. Published

    National Experiences from 30 Years of Provider-Mediated Cascade Testing in Lynch Syndrome Families—The Danish Model

    Lindberg, Lars Joachim, Wadt, Karin Anna Wallentin, Therkildsen, C. & Petersen, H. V., 2024, In: Cancers. 16, 8, 13 p., 1577.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    The evolutionary impact of childhood cancer on the human gene pool

    Stoltze, U. K., Foss-Skiftesvik, J., Hansen, Thomas van Overeem, Rasmussen, Simon, Karczewski, K. J., Wadt, Karin Anna Wallentin & Schmiegelow, Kjeld, 2024, In: Nature Communications. 15, 15 p., 1881.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. 2023
  5. 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 journalJournal articleResearchpeer-review

  6. Published

    Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome

    Lalloo, F., Kulkarni, A., Chau, C., Nielsen, M., Sheaff, M., Steele, J., van Doorn, R., Wadt, K., Hamill, M., Torr, B., Tischkowitz, M., Ahmed, M., Bajalica-Lagercrantz, S., Blatnik, A., Brunet, J., Cleaver, R., Colas, C., Dabir, T., Evans, D. G., Feshtali, S. & 26 others, Ghiorzo, P., Graversen, L., Griewank, K., Helgadottir, H., Jewell, R., Kohut, K., Lorentzen, H., Massi, D., Missotten, G., Murray, A., Murray, J., Nadal, E., Ong, K. R., Piulats, J. M., Puig, S., Rajan, N., Ribero, S., Salle, G., Teulé, A., Tham, E., van Paassen, B., De Putter, R., Verdijk, R., Wagner, A., Woodward, E. R. & Hanson, H., 2023, In: European Journal of Human Genetics. 31, p. 1261–1269 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. 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 journalJournal articleResearchpeer-review

  8. 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 journalJournal articleResearchpeer-review

  9. Published

    Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort

    Stoltze, U. K., Hildonen, M., Hansen, Thomas van Overeem, Foss-Skiftesvik, J., Byrjalsen, A., Lundsgaard, M., Pignata, L., Grønskov, K., Tümer, Asuman Zeynep, Schmiegelow, Kjeld, Brok, J. S. & Wadt, Karin Anna Wallentin, 2023, In: Journal of Medical Genetics. 60, 9, p. 842-849

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. Published

    Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes

    Stoltze, U. K., Hansen, Thomas van Overeem, Brok, J. S., Gronskov, K., Tümer, Asuman Zeynep, Ahlborn, L. B., Schmiegelow, Kjeld & Wadt, Karin Anna Wallentin, 2023, In: Journal of Medical Genetics. 60, 2, p. 128-130 3 p., 108335.

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. Published

    Molecular reclassification reveals low prevalence of germline predisposition in children with ependymoma

    Foss-Skiftesvik, J., Mathiasen, René, Hansen, Thomas van Overeem, Wadt, Karin Anna Wallentin, Schmiegelow, Kjeld & Stoltze, U. K., 2023, In: Acta Neuropathologica Communications. 11, 1, 94.

    Research output: Contribution to journalComment/debateResearchpeer-review

  12. Published

    New pathogenic germline variants identified in mesothelioma

    Belcaid, L., Bertelsen, B., Wadt, Karin Anna Wallentin, Tuxen, I., Spanggaard, I., Højgaard, M., Sørensen, Jens Benn, Ravn, J., Lassen, Ulrik Niels, Nielsen, Finn Cilius, Rohrberg, K. & Westmose Yde, C., 2023, In: Lung Cancer. 179, 8 p., 107172.

    Research output: Contribution to journalReviewResearchpeer-review

  13. Published

    RosettaDDGPrediction for high-throughput mutational scans: From stability to binding

    Sora, Valentina, Laspiur, A. O., Degn, K., Arnaudi, M., Utichi, M., Beltrame, L., De Menezes, D., Orlandi, M., Stoltze, U. K., Rigina, O., Sackett, P. W., Wadt, Karin Anna Wallentin, Schmiegelow, Kjeld, Tiberti, M. & Papaleo, E., 2023, In: Protein Science. 32, 1, e4527.

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. 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 journalJournal articleResearchpeer-review

  15. 2022
  16. Published

    9p21.3 Microdeletion involving CDKN2A/2B in a young patient with multiple primary cancers and review of the literature

    Jensen, M. R., Stoltze, U., Hansen, Thomas van Overeem, Bak, M., Sehested, A., Rechnitzer, C., Mathiasen, René, Scheie, David, Larsen, K. B., Olsen, T. E., Muhic, A., Skjøth, Jane, Rossing, Caroline Maria, Schmiegelow, Kjeld & Wadt, Karin Anna Wallentin, 2022, In: Cold Spring Harbor molecular case studies. 8, 4, a006164.

    Research output: Contribution to journalReviewResearchpeer-review

  17. Published

    Background sensitivity to chemotherapy-induced nausea and vomiting and response to antiemetics in paediatric patients: a genetic association study

    Eliasen, A., Kornholt, J., Mathiasen, R., Wadt, Karin Anna Wallentin, Stoltze, U., Brok, J., Rechnitzer, C., Schmiegelow, Kjeld & Dalhoff, Kim, 2022, In: Pharmacogenetics and Genomics. 32, 2, p. 72-78 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. Published

    Cancer-related Mutations with Local or Long-range Effects on an Allosteric Loop of p53

    Degn, K., Beltrame, L., Dahl Hede, F., Sora, V., Nicolaci, V., Vabistsevits, M., Schmiegelow, Kjeld, Wadt, Karin Anna Wallentin, Tiberti, M., Lambrughi, M. & Papaleo, E., 2022, In: Journal of Molecular Biology. 434, 17, 33 p., 167663.

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. 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 journalJournal articleResearchpeer-review

  20. 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 journalJournal articleResearchpeer-review

  21. Published

    Intestinal and extraintestinal neoplasms in patients with NTHL1 tumor syndrome: a systematic review

    Beck, S. H., Jelsig, A. M., Yassin, H. M., Lindberg, L. J., Wadt, Karin Anna Wallentin & Karstensen, John Gásdal, 2022, In: Familial Cancer. 21, 4, p. 453-462

    Research output: Contribution to journalReviewResearchpeer-review

  22. Published

    Onkogenetik I: Arvelig disposition til cancer

    Wadt, Karin Anna Wallentin & Lautrup, C. K., 2022, Medicinsk genetik. 3 ed. FADL's Forlag, p. 291-317

    Research output: Chapter in Book/Report/Conference proceedingBook chapterEducation

  23. Published

    Recurrent Germline Variant in RAD21 Predisposes Children to Lymphoblastic Leukemia or Lymphoma

    Schedel, A., Friedrich, U. A., Morcos, M. N. F., Wagener, R., Mehtonen, J., Watrin, T., Saitta, C., Brozou, T., Michler, P., Walter, C., Försti, A., Baksi, A., Menzel, M., Horak, P., Paramasivam, N., Fazio, G., Autry, R. J., Fröhling, S., Suttorp, M., Gertzen, C. & 13 others, Gohlke, H., Bhatia, S., Wadt, Karin Anna Wallentin, Schmiegelow, Kjeld, Dugas, M., Richter, D., Glimm, H., Heinäniemi, M., Jessberger, R., Cazzaniga, G., Borkhardt, A., Hauer, J. & Auer, F., 2022, In: International Journal of Molecular Sciences. 23, 9, 5174.

    Research output: Contribution to journalJournal articleResearchpeer-review

  24. Published

    Redefining germline predisposition in children with molecularly characterized ependymoma: a population-based 20-year cohort

    Foss-Skiftesvik, J., Stoltze, U. K., Hansen, Thomas van Overeem, Ahlborn, L. B., Sørensen, E., Ostrowski, Sisse Rye, Kullegaard, S. M. A., Laspiur, A. O., Melchior, L. C., Scheie, David, Kristensen, Bjarne Winther, Skjøth, Jane, Schmiegelow, Kjeld, Wadt, Karin Anna Wallentin & Mathiasen, René, 2022, In: Acta Neuropathologica Communications. 10, 123.

    Research output: Contribution to journalJournal articleResearchpeer-review

  25. Published

    Risk of New Primary Cancer in Patients with Posterior Uveal Melanoma: A National Cohort Study

    Bagger, M., Albieri, V., Hindso, T. G., Wadt, Karin Anna Wallentin, Heegaard, Steffen, Andersen, Klaus Kaae & Kiilgaard, Jens Folke, 2022, In: Cancers. 14, 2, 11 p., 284.

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. Published

    Risk of somatic hospitalization in parents after cancer in a child, a nationwide cohort study

    von Heymann, A., Alef-Defoe, S., Salem, H., Andersen, Elisabeth Anne Wreford, Dalton, Susanne Oksbjerg, Schmiegelow, Kjeld, Wadt, Karin Anna Wallentin, Winther, J. F., Johansen, Christoffer & Bidstrup, Pernille Envold Hansen, 2022, In: Psycho-Oncology. 31, 7, p. 1196-1203 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. Published

    von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance

    Louise M Binderup, M., Smerdel, M., Borgwadt, L., Beck Nielsen, S. S., Madsen, M. G., Møller, H. U., Kiilgaard, J. F., Friis-Hansen, L., Harbud, V., Cortnum, S., Owen, H., Gimsing, S., Friis Juhl, H. A., Munthe, S., Geilswijk, M., Rasmussen, Å. K., Møldrup, U., Graumann, O., Donskov, F., Grønbæk, H. & 11 others, Stausbøl-Grøn, B., Schaffalitzky de Muckadell, O., Knigge, Ulrich, Dam, G., Wadt, Karin Anna Wallentin, Bøgeskov, L., Bagi, P., Lund, L., Stochholm, K., Ousager, L. B. & Sunde, L., 2022, In: European Journal of Medical Genetics. 65, 8, 104538.

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. 2021
  29. 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 journalJournal articleResearchpeer-review

  30. Published

    Nye arvelige polyposesyndromer som differentialdiagnose hos patienten med tarmpolypper

    Jelsig, A. M., Jespersen, N., Karstensen, John Gásdal, Ketabi, Z., Rønlund, K., Sunde, L., Thorlacius-Ussing, O., Wadt, Karin Anna Wallentin, Qvist, N. & Lautrup, C. K., 20 Sep 2021, In: Ugeskrift for Laeger. 183, 38, 8 p., :V02210148.

    Research output: Contribution to journalJournal articleResearchpeer-review

  31. Published

    Genomforskningsprojekt påviser TP53-mutation hos en pige med rabdomyosarkom

    Behrendt-Møller, I., Stoltze, U., Hjalgrim, L. L., Hansen, Thomas van Overeem, Schmiegelow, Kjeld & Wadt, Karin Anna Wallentin, 9 Aug 2021, In: Ugeskrift for Laeger. 183, 32, 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  32. 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 journalJournal articleResearchpeer-review

  33. Published

    Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

    Seppälä, T. T., Dominguez-Valentin, M., Crosbie, E. J., Engel, C., Aretz, S., Macrae, F., Winship, I., Capella, G., Thomas, H., Hovig, E., Nielsen, M., Sijmons, R. H., Bertario, L., Bonanni, B., Tibiletti, M. G., Cavestro, G. M., Mints, M., Gluck, N., Katz, L., Heinimann, K. & 66 others, Vaccaro, C. A., Green, K., Lalloo, F., Hill, J., Schmiegel, W., Vangala, D., Perne, C., Strauß, H. G., Tecklenburg, J., Holinski-Feder, E., Steinke-Lange, V., Mecklin, J. P., Plazzer, J. P., Pineda, M., Navarro, M., Vida, J. B., Kariv, R., Rosner, G., Piñero, T. A., Pavicic, W., Kalfayan, P., ten Broeke, S. W., Jenkins, M. A., Sunde, L., Bernstein, I., Burn, J., Greenblatt, M., de Vos tot Nederveen Cappel, W. H., Della Valle, A., Lopez-Koestner, F., Alvarez, K., Büttner, R., Görgens, H., Morak, M., Holzapfel, S., Hüneburg, R., von Knebel Doeberitz, M., Loeffler, M., Redler, S., Weitz, J., Pylvänäinen, K., Renkonen-Sinisalo, L., Lepistö, A., Hopper, J. L., Win, A. K., Lindor, N. M., Gallinger, S., Le Marchand, L., Newcomb, P. A., Figueiredo, J. C., Thibodeau, S. N., Therkildsen, C., Wadt, Karin Anna Wallentin, Mourits, M. J. E., Ketabi, Z., Denton, O. G., Rødland, E. A., Vasen, H., Neffa, F., Esperon, P., Tjandra, D., Möslein, G., Rokkones, E., Sampson, J. R., Evans, D. G. & Møller, P., May 2021, In: European Journal of Cancer. 148, p. 124-133 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  34. Published

    Clinical and genetic characteristics of children with acute lymphoblastic leukemia and Li–Fraumeni syndrome

    Winter, G., Kirschner-Schwabe, R., Groeneveld-Krentz, S., Escherich, G., Möricke, A., von Stackelberg, A., Stanulla, M., Bailey, S., Richter, L., Steinemann, D., Ripperger, T., Escudero, A., Farah, R., Lohi, O., Wadt, Karin Anna Wallentin, Jongmans, M., van Engelen, N., Eckert, C. & Kratz, C. P., 2021, In: Leukemia. 35, 5, p. 1475-1479 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  35. Published

    Danish guidelines for management of non-APC-associated hereditary polyposis syndromes

    Jelsig, A. M., Karstensen, John Gásdal, Jespersen, N., Ketabi, Z., Lautrup, C., Rønlund, K., Sunde, L., Wadt, Karin Anna Wallentin, Thorlacius-Ussing, O. & Qvist, N., 2021, In: Hereditary Cancer in Clinical Practice. 19, 9 p., 41.

    Research output: Contribution to journalReviewResearchpeer-review

  36. Published

    Novel Genetic Causes of Gastrointestinal Polyposis Syndromes

    Jelsig, A. M., Byrjalsen, A., Madsen, M. B., Kuhlmann, Tine Plato, Hansen, Thomas van Overeem, Wadt, Karin Anna Wallentin & Karstensen, John Gásdal, 2021, In: Application of Clinical Genetics. 14, p. 455-466 12 p.

    Research output: Contribution to journalReviewResearchpeer-review

  37. Published

    Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe

    extended ERN-GENTURIS Thematic Group 3, E. E. T. G. 3., 2021, In: European Journal of Medical Genetics. 64, 12, 7 p., 104350.

    Research output: Contribution to journalJournal articleResearchpeer-review

  38. Published

    Prevalence of Pathogenic Germline DICER1 Variants in Young Individuals Thyroidectomised Due to Goitre – A National Danish Cohort

    Altaraihi, M., Hansen, T. V. O., Santoni Rugiu, Eric, Rossing, M., Rasmussen, Å. K., Gerdes, A. & Wadt, Karin Anna Wallentin, 2021, In: Frontiers in Endocrinology. 12, 7 p., 727970.

    Research output: Contribution to journalJournal articleResearchpeer-review

  39. 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 journalJournal articleResearchpeer-review

  40. Published

    Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group

    Bakhuizen, J. J., Hanson, H., van der Tuin, K., Lalloo, F., Tischkowitz, M., Wadt, Karin Anna Wallentin, Jongmans, M. C. J., SIOPE Host Genome Working Group, S. H. G. W. G., CanGene-CanVar Clinical Guideline Working Group, C. C. G. W. G. & Expert Network Members, E. N. M., 2021, In: Familial Cancer. 20, 4, p. 337-348 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  41. 2020
  42. 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 journalJournal articleResearchpeer-review

  43. Published

    A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome

    Bache, Iben, Wadt, Karin Anna Wallentin, Mehrjouy, M. M., Rossing, M., Østrup, O., Byrjalsen, A., Tommerup, Niels, Metzner, M., Vyas, P., Schmiegelow, Kjeld, Lausen, B. & Andersen, M. K., 2020, In: Blood Cancer Journal. 10, 3, 4 p., 27.

    Research output: Contribution to journalLetterResearchpeer-review

  44. Published

    Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

    Dominguez-Valentin, M., Sampson, J. R., Seppälä, T. T., ten Broeke, S. W., Plazzer, J. P., Nakken, S., Engel, C., Aretz, S., Jenkins, M. A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Thomas, H., Evans, D. G., Burn, J., Greenblatt, M., Hovig, E., de Vos tot Nederveen Cappel, W. H., Sijmons, R. H. & 68 others, Bertario, L., Tibiletti, M. G., Cavestro, G. M., Lindblom, A., Della Valle, A., Lopez-Köstner, F., Gluck, N., Katz, L. H., Heinimann, K., Vaccaro, C. A., Büttner, R., Görgens, H., Holinski-Feder, E., Morak, M., Holzapfel, S., Hüneburg, R., Knebel Doeberitz, M. V., Loeffler, M., Rahner, N., Schackert, H. K., Steinke-Lange, V., Schmiegel, W., Vangala, D., Pylvänäinen, K., Renkonen-Sinisalo, L., Hopper, J. L., Win, A. K., Haile, R. W., Lindor, N. M., Gallinger, S., Le Marchand, L., Newcomb, P. A., Figueiredo, J. C., Thibodeau, S. N., Wadt, Karin Anna Wallentin, Therkildsen, C., Okkels, H., Ketabi, Z., Moreira, L., Sánchez, A., Serra-Burriel, M., Pineda, M., Navarro, M., Blanco, I., Green, K., Lalloo, F., Crosbie, E. J., Hill, J., Denton, O. G., Frayling, I. M., Rødland, E. A., Vasen, H., Mints, M., Neffa, F., Esperon, P., Alvarez, K., Kariv, R., Rosner, G., Pinero, T. A., Gonzalez, M. L., Kalfayan, P., Tjandra, D., Winship, I. M., Macrae, F., Möslein, G., Mecklin, J. P., Nielsen, M. & Møller, P., 2020, In: Genetics in Medicine. 22, 1, p. 15-25 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  45. 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 journalJournal articleResearchpeer-review

  46. 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 journalJournal articleResearchpeer-review

  47. Published

    The molecular profile of mucosal melanoma

    Mikkelsen, Lauge Hjorth, Maag, E., Andersen, M. K., Kruhøffer, M., Larsen, A. C., Melchior, L. C., Toft, Peter Bjerre, von Buchwald, Christian, Wadt, Karin Anna Wallentin & Heegaard, Steffen, 2020, In: Melanoma Research. 30, 6, p. 533-542 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  48. Published

    Variability in Medullary Thyroid Carcinoma in RET L790F Carriers: A Case Comparison Study of Index Patients

    Mathiesen, J. S., Nielsen, S. G., Rasmussen, Å. K., Kiss, K., Wadt, Karin Anna Wallentin, Hermann, A. P., Nielsen, M. F., Larsen, S. R., Brusgaard, K., Frederiksen, A. L., Godballe, C. & Rossing, M., 2020, In: Frontiers in Endocrinology. 11, 251.

    Research output: Contribution to journalJournal articleResearchpeer-review

  49. Published

    Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours

    Johansson, P. A., Brooks, K., Newell, F., Palmer, J. M., Wilmott, J. S., Pritchard, A. L., Broit, N., Wood, S., Carlino, M. S., Leonard, C., Koufariotis, L. T., Nathan, V., Beasley, A. B., Howlie, M., Dawson, R., Rizos, H., Schmidt, C. W., Long, G. V., Hamilton, H., Kiilgaard, J. F. & 15 others, Isaacs, T., Gray, E. S., Rolfe, O. J., Park, J. J., Stark, A., Mann, G. J., Scolyer, R. A., Pearson, J. V., van Baren, N., Waddell, N., Wadt, Karin Anna Wallentin, McGrath, L. A., Warrier, S. K., Glasson, W. & Hayward, N. K., 2020, In: Nature Communications. 11, 8 p., 2408.

    Research output: Contribution to journalJournal articleResearchpeer-review

  50. 2019
  51. 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 journalJournal articleResearchpeer-review

  52. 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 journalJournal articleResearchpeer-review

  53. 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 journalJournal articleResearchpeer-review

  54. Published

    Evaluation of the contribution of germline variants in BRCA1 and BRCA2 to uveal and cutaneous melanoma

    Johansson, P. A., Nathan, V., Bourke, L. M., Palmer, J. M., Zhang, T., Symmons, J., Howlie, M., Patch, A. M., Read, J., Holland, E. A., Schmid, H., Warrier, S., Glasson, W., Höiom, V., Wadt, K., Jönsson, G., Olsson, H., Ingvar, C., Mann, G., Brown, K. M. & 2 others, Hayward, N. K. & Pritchard, A. L., 2019, In: Melanoma Research. 29, 5, p. 483-490 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  55. 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 journalJournal articleResearchpeer-review

  56. Published

    Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma

    Nathan, V., Johansson, P. A., Palmer, J. M., Howlie, M., Hamilton, H. R., Wadt, Karin Anna Wallentin, Jönsson, G., Brooks, K. M., Pritchard, A. L. & Hayward, N. K., 2019, In: Pigment Cell and Melanoma Research. 32, 6, p. 854-863 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  57. Published

    Global microRNA profiling of metastatic conjunctival melanoma

    Mikkelsen, Lauge Hjorth, Andersen, M. K., Andreasen, S., Larsen, A., Tan, Q., Toft, Peter Bjerre, Wadt, Karin Anna Wallentin & Heegaard, Steffen, 2019, In: Melanoma Research. 29, 5, p. 465-473 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  58. Published

    High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer

    Bertelsen, B., Tuxen, I. V., Yde, C. W., Gabrielaite, M., Torp, M. H., Kinalis, S., Oestrup, O., Rohrberg, K., Spangaard, I., Santoni Rugiu, Eric, Wadt, Karin Anna Wallentin, Mau-Sorensen, M., Lassen, Ulrik Niels & Nielsen, Finn Cilius, 2019, In: npj Genomic Medicine. 4, 1, 11 p., 13.

    Research output: Contribution to journalJournal articleResearchpeer-review

  59. Published

    Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome

    Askaner, G., Lei, Ulrikke, Bertelsen, B., Venzo, A. & Wadt, Karin Anna Wallentin, 2019, In: Case Reports in Genetics. 2019, 6 p., 9650184.

    Research output: Contribution to journalJournal articleResearchpeer-review

  60. Published

    The genetic evolution of metastatic uveal melanoma

    Shain, A. H., Bagger, M. M., Yu, R., Chang, D., Liu, S., Vemula, S., Weier, J. F., Wadt, Karin Anna Wallentin, Heegaard, Steffen, Bastian, B. C. & Kiilgaard, Jens Folke, 2019, In: Nature Genetics. 51, p. 1123–1130

    Research output: Contribution to journalJournal articleResearchpeer-review

  61. 2018
  62. Published

    Putative new childhood leukemia cancer predisposition syndrome caused by germline bi-allelic missense mutations in DDX41

    Diness, Birgitte Rode, Risom, L., Frandsen, T. L., Hansen, B., Andersen, M. K., Schmiegelow, Kjeld & Wadt, Karin Anna Wallentin, 2018, In: Genes Chromosomes and Cancer. 57, 12, p. 670-674 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 212547613