Thomas van Overeem Hansen

Research output

Research output per year 1995 2022 2023 2024 2024

• 2495 Citations
• 57 Journal article
• 5 Review
• 2 Comment/debate
• 2 Letter

Research output per year

Research output per year

Search results

• 2024

  Actionability and familial uptake following opportunistic genomic screening in a pediatric cancer cohort

  Hammer-Hansen, S., Stoltze, U., Bartels, E., Hansen, T. V. O., Byrjalsen, A., Tybjærg-Hansen, A., Juul, K., Schmiegelow, K., Tfelt, J., Bundgaard, H., Wadt, K. & Diness, B. R., 2024, In: European Journal of Human Genetics. 32, 7, p. 846-857 12 p.

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

  Open Access

  File
  1 Citation (Scopus)

  8 Downloads (Pure)

• Aortic dissection in a young male with persistent ductus arteriosus and a novel variant in MYLK

  Boelman, M. B., Hansen, T. V. O., Smith, M. N., Hammer-Hansen, S., Christensen, A. H. & Diness, B. R., 2024, In: American Journal of Medical Genetics, Part A. 194, 3, 6 p., e63458.

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

  Open Access

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  10 Downloads (Pure)

• Cancer Risks in Attenuated and Classical Familial Adenomatous Polyposis: A Nationwide Cohort with Matched, Non-Exposed Individuals Cancer and surgery in AFAP and FAP patients

  Beck, S. H., Karstensen, J. G., Bülow, S., Andersen, K. K., van Overeem Hansen, T., Højen, H., Jespersen, N., Kuhlmann, T. P., Pommergaard, H. C., Wewer, M. D., Wullum, L., Jelsig, A. M. & Burisch, J., 2024, (E-pub ahead of print) In: American Journal of Gastroenterology.

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

• Endoscopic indicators in patients with familial adenomatous polyposis undergoing duodenal resections – a nationwide Danish cohort study with long-term follow-up

  Karstensen, J. G., Wewer, M. D., Bülow, S., Hansen, T. V. O., Højen, H., Jelsig, A. M., Kuhlmann, T. P., Burisch, J. & Pommergaard, H. C., 2024, In: Familial Cancer. 23, 4, p. 607-615 9 p.

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

  Open Access

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• Evolutionary evidence precludes ELP1 as a high-penetrance pediatric cancer predisposition syndrome gene

  Henriksen, K. A., Hansen, T. V. O., Wadt, K., Schmiegelow, K., Foss-Skiftesvik, J. & Stoltze, U. K., 2024, In: Neuro-Oncology Advances. 6, 1, 3 p., vdae165.

  Research output: Contribution to journal › Comment/debate › Research › peer-review

  Open Access

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  1 Downloads (Pure)

• Gastrointestinal manifestations in patients with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): a systematic review with analysis of individual patient data

  Skat-Rørdam, P. A., Kaya, Y., Qvist, N., Hansen, T. O., Jensen, T. D., Karstensen, J. G. & Jelsig, A. M., 2024, In: Hereditary Cancer in Clinical Practice. 22, 1, 9 p., 12.

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

  Open Access

  File
  1 Citation (Scopus)

  2 Downloads (Pure)

• Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel

  InSiGHT-ClinGen Hereditary Colon Cancer/Polyposis Variant Curation Expert Panel, 2024, In: Genetics in Medicine. 26, 2, 21 p., 100992.

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

  Open Access

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  11 Citations (Scopus)

  7 Downloads (Pure)

• Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS

  Yin, X., Richardson, M., Laner, A., Shi, X., Ognedal, E., Vasta, V., Hansen, T. V. O., Pineda, M., Ritter, D., de Dunnen, J., Hassanin, E., Lin, W. L., Borras, E., Krahn, K., Nordling, M., Martins, A., Mahmood, K., Nadeau, E., Beshay, V., Tops, C. & 12 others, Genuardi, M., Pesaran, T., Frayling, I. M., Capellá, G., Latchford, A., Tavtigian, S. V., Maj, C., Plon, S. E., Greenblatt, M. S., Macrae, F. A., Spier, I. & Aretz, S., 2024, In: American Journal of Human Genetics. 111, 11, p. 2427-2443 17 p.

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

  Open Access

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• Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant

  Block, I., Mateu-Regué, À., Do, T. T. N., Miceikaite, I., Sdogati, D., Larsen, M. J., Hao, Q., Nielsen, H. R., Boonen, S. E., Skytte, A. B., Jensen, U. B., Høffding, L. K., De Nicolo, A., Viel, A., Tudini, E., Parsons, M. T., Hansen, T. V. O., Rossing, M., Kruse, T. A., Spurdle, A. B. & 1 others, Thomassen, M., 2024, In: Breast Cancer Research. 26, 1, 14 p., 6.

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

  Open Access

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  10 Downloads (Pure)

• Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome

  Barington, M., Bak, M., Kjartansdóttir, K. R., Hansen, T. V. O., Birkedal, U., Østergaard, E. & Hove, H. B., 2024, In: American Journal of Medical Genetics, Part A. 194, 8, 6 p., e63581.

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

  Open Access

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  2 Downloads (Pure)

• Novel germline TP53 variant (p.(Phe109Ile)) confer high risk of cancer

  Byrjalsen, A., Stoltze, U. K., Lautrup, C., Christensen, L. L., Mikkelsen, T., Hjalgrim, L., Brok, J. S., Dahl, C., Schmiegelow, K., Borgwardt, L., Diness, B. R., Hansen, T. V. O. & Wadt, K. A. W., 2024, In: Journal of Medical Genetics. 61, 11, p. 1023–1025 3 p.

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

• Predicting the impact of rare variants on RNA splicing in CAGI6

  Lord, J., Oquendo, C. J., Wai, H. A., Douglas, A. G. L., Bunyan, D. J., Wang, Y., Hu, Z., Zeng, Z., Danis, D., Katsonis, P., Williams, A., Lichtarge, O., Chang, Y., Bagnall, R. D., Mount, S. M., Matthiasardottir, B., Lin, C., Hansen, T. V. O., Leman, R., Martins, A. & 7 others, Houdayer, C., Krieger, S., Bakolitsa, C., Peng, Y., Kamandula, A., Radivojac, P. & Baralle, D., 2024, (Accepted/In press) In: Human Genetics.

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

  Open Access
  1 Citation (Scopus)

• Progress report: Peutz–Jeghers syndrome

  Jelsig, A. M., Karstensen, J. G. & Hansen, T. V. O., 2024, In: Familial Cancer. 23, p. 409-417 9 p.

  Research output: Contribution to journal › Review › Research › peer-review
  1 Citation (Scopus)

• Reclassification of Two MLH1 Variants of Uncertain Significance Utilizing Clinical and Functional Data

  Frederiksen, J. H., Birkedal, U., Bachmann, S., Eliesen, E. V., Rasmussen, L. J., Pedersen, K. V., Al-Zehhawi, L., Boonen, S. E., Krogh, L., Rønlund, K., Graversen, L., Assenholt, J., Schmiegelow, K., Wadt, K., Gerdes, A. M. & Hansen, T. V. O., 2024, In: Molecular Genetics and Genomic Medicine. 12, 11, 7 p., e70026.

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

  Open Access

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  1 Downloads (Pure)

• Re-evaluating the genotypes of patients with adenomatous polyposis of unknown etiology: a nationwide study

  Karstensen, J. G., Hansen, T. V. O., Burisch, J., Djursby, M., Højen, H., Madsen, M. B., Jespersen, N. & Jelsig, A. M., 2024, In: European Journal of Human Genetics. 32, 5, p. 588-592 5 p.

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

  Open Access

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  1 Citation (Scopus)

  4 Downloads (Pure)

• The evolutionary impact of childhood cancer on the human gene pool

  Stoltze, U. K., Foss-Skiftesvik, J., Hansen, T. V. O., Rasmussen, S., Karczewski, K. J., Wadt, K. A. W. & Schmiegelow, K., 2024, In: Nature Communications. 15, 15 p., 1881.

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

  Open Access

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  2 Citations (Scopus)

  10 Downloads (Pure)
• 2023

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

  Stoltze, U. K., Hagen, C. M., van Overeem Hansen, T., Byrjalsen, A., Gerdes, A. M., Yakimov, V., Rasmussen, S., Bækvad-Hansen, M., Hougaard, D. M., Schmiegelow, K., Hjalgrim, H., Wadt, K. & Bybjerg-Grauholm, J., 2023, In: Genome Medicine. 15, 12 p., 17.

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

  Open Access

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  42 Downloads (Pure)

• ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

  Stolarova, L., Kleiblova, P., Zemankova, P., Stastna, B., Janatova, M., Soukupova, J., Achatz, M. I., Ambrosone, C., Apostolou, P., Arun, B. K., Auer, P., Barnard, M., Bertelsen, B., Japan, B., Blok, M. J., Boddicker, N., Brunet, J., Burnside, E. S., Calvello, M., Campbell, I. & 92 others, Chan, S. H., Chen, F., Chiang, J. B., Coppa, A., Cortesi, L., Crujeiras-González, A., Czecanca, C., De Leeneer, K., De Putter, R., DePersia, A., Devereux, L., Domchek, S., Efremidis, A., Engel, C., Ernst, C., Evans, G. D. R., Feliubadaló, L., Fostira, F., Fuentes-Ríos, O., Gómez-García, E. B., González, S., Haiman, C., van Overeem Hansen, T., Hauke, J., Hodge, J., Hu, C., Huang, H., Binte Ishak, N. D., Iwasaki, Y., Konstantopoulou, I., Kraft, P., Lacey, J., Lázaro, C., Li, N., Lim, W. K., Lindstrom, S., Lori, A., Martinez, E., Martins, A., Matsuda, K., Matullo, G., McInerny, S., Michailidou, K., Montagna, M., Monteiro, A. N. A., Mori, L., Nathanson, K., Neuhausen, S. L., Nevanlinna, H., Olson, J. E., Palmer, J., Pasini, B., Patel, A., Piane, M., Poppe, B., Radice, P., Renieri, A., Resta, N., Richardson, M. E., Rosseel, T., Ruddy, K. J., Santamariña, M., Dos Santos, E. S., Teras, L., Toland, A. E., Trentham-Dietz, A., Vachon, C. M., Volk, A. E., Weber-Lassalle, N., Weitzel, J. N., Wiesmuller, L., Winham, S., Yadav, S., Yannoukakos, D., Yao, S., Zampiga, V., Zethoven, M., Zhang, Z. W., Zima, T., Spurdle, A. B., Vega, A., Rossing, M., Valle, J. D., De Nicolo, A., Hahnen, E., Claes, K. B. M., Ngeow, J., Momozawa, Y., James, P. A., Couch, F. J., Macurek, L. & Kleibl, Z., 2023, In: Clinical Cancer Research. 29, 16, p. 3037-3050 14 p.

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

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  12 Citations (Scopus)

  3 Downloads (Pure)

• 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., van Overeem Hansen, T., Byrjalsen, A., Sehested, A., Scheie, D., Mikkelsen, T. S., Rasmussen, S., Bak, M., Okkels, H., Callesen, M. T., Skjøth-Rasmussen, J., Gerdes, A-M., Schmiegelow, K., Mathiasen, R. & Wadt, K., 2023, In: Neuro-Oncology. 25, 4, p. 761-773

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

  Open Access
  12 Citations (Scopus)

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

  Stoltze, U. K., Hildonen, M., Hansen, T. V. O., Foss-Skiftesvik, J., Byrjalsen, A., Lundsgaard, M., Pignata, L., Grønskov, K., Tumer, Z., Schmiegelow, K., Brok, J. S. & Wadt, K. A. W., 2023, In: Journal of Medical Genetics. 60, 9, p. 842-849

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

  Open Access

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  5 Citations (Scopus)

  16 Downloads (Pure)

• Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy

  Barington, M., Dunø, M., Birkedal, U., Vissing, J., Born, A. P., Krag, T., Hansen, T. V. O. & Østergaard, E., 2023, In: Neuromuscular Disorders. 33, 7, p. 539-545 7 p.

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

  Open Access

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• Identification of a novel pathogenic deep intronic variant in PTEN resulting in pseudoexon inclusion in a patient with juvenile polyps

  Jelsig, A. M., Rønlund, K., Gede, L. B., Frederiksen, J. H., Karstensen, J. G., Birkedal, U. & Hansen, T. V. O., 2023, In: Journal of Human Genetics. 68, p. 721-724 4 p.

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

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

  Stoltze, U. K., Hansen, T. V. O., Brok, J. S., Gronskov, K., Tumer, A. Z., Ahlborn, L. B., Schmiegelow, K. & Wadt, K. A. W., 2023, In: Journal of Medical Genetics. 60, 2, p. 128-130 3 p., 108335.

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

  Open Access

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  2 Citations (Scopus)

  17 Downloads (Pure)

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

  Foss-Skiftesvik, J., Mathiasen, R., van Overeem Hansen, T., Wadt, K., Schmiegelow, K. & Stoltze, U. K., 2023, In: Acta Neuropathologica Communications. 11, 1, 94.

  Research output: Contribution to journal › Comment/debate › Research › peer-review

  Open Access

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• Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

  AOCS Group, CZECANCA Consortium, The Consortium of Investigators of Modifiers of BRCA1/2, Evidence-based Network for the Interpretation of Germline Mutant Alleles Consortium, HEBON Investigators & GEMO Study Collaborators, 2023, In: British Journal of Cancer. 128, 12, p. 2283-2294 12 p.

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

  Open Access

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  6 Citations (Scopus)

  8 Downloads (Pure)

• Survival, surveillance, and genetics in patients with Peutz–Jeghers syndrome: A nationwide study

  Jelsig, A. M., van Overeem Hansen, T., Gede, L. B., Qvist, N., Christensen, L. L., Lautrup, C. K., Frederiksen, J. H., Sunde, L., Ousager, L. B., Ljungmann, K., Bertelsen, B. & Karstensen, J. G., 2023, In: Clinical Genetics. 104, 1, p. 81-89 9 p.

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

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  9 Citations (Scopus)

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• 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, A-M., Schmiegelow, K., Wadt, K. & Hansen, T. V. O., 2023, In: Molecular Genetics and Genomic Medicine. 11, 10, 7 p., e2232.

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

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

  Jensen, M. R., Jelsig, A. M., Gerdes, A. M., Hölmich, L. R., Kainu, K. H., Lorentzen, H. F., Hansen, M. H., Bak, M., Johansson, P. A., Hayward, N. K., Van Overeem Hansen, T. & Wadt, K. A. W., 2023, In: Human Genetics and Genomics Advances. 4, 4, 12 p., 100225.

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

  Open Access

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  3 Citations (Scopus)

  17 Downloads (Pure)

• 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
  12 Citations (Scopus)

• Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study

  Jelsig, A. M., van Overeem Hansen, T., Gede, L. B., Qvist, N., Christensen, L. L., Lautrup, C. K., Ljungmann, K., Christensen, L. T., Rønlund, K., Tørring, P. M., Bertelsen, B., Sunde, L. & Karstensen, J. G., 2023, In: Familial Cancer. 22, p. 429–436 8 p.

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

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  6 Citations (Scopus)

  18 Downloads (Pure)
• 2022

  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, T. V. O., Bak, M., Sehested, A., Rechnitzer, C., Mathiasen, R., Scheie, D., Larsen, K. B., Olsen, T. E., Muhic, A., Skjøth-Rasmussen, J., Rossing, M., Schmiegelow, K. & Wadt, K., 2022, In: Cold Spring Harbor molecular case studies. 8, 4, a006164.

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

  Open Access

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  2 Citations (Scopus)

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• Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

  GEMO Study Collaborators, EMBRACE Collaborators, kConFab Investigators, HEBON Investigators, BRCA1 & BRCA2, Jan 2022, In: National Cancer Institute. Journal (Online). 114, 1, p. 109-122 14 p., 147.

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

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  25 Citations (Scopus)

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• Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach

  Thomassen, M., Mesman, R. L. S., Hansen, T. V. O., Menendez, M., Rossing, M., Esteban-Sánchez, A., Tudini, E., Törngren, T., Parsons, M. T., Pedersen, I. S., Teo, S. H., Kruse, T. A., Møller, P., Borg, Å., Jensen, U. B., Christensen, L. L., Singer, C. F., Muhr, D., Santamarina, M., Brandao, R. & 30 others, Andresen, B. S., Feng, B-J., Canson, D., Richardson, M. E., Karam, R., Pesaran, T., LaDuca, H., Conner, B. R., Abualkheir, N., Hoang, L., Calléja, F. M. G. R., Andrews, L., James, P. A., Bunyan, D., Hamblett, A., Radice, P., Goldgar, D. E., Walker, L. C., Engel, C., Claes, K. B. M., Macháčková, E., Baralle, D., Viel, A., Wappenschmidt, B., Lazaro, C., Vega, A., Vreeswijk, M. P. G., de la Hoya, M., Spurdle, A. B. & ENIGMA Consortium, 2022, In: Human Mutation. 43, 12, p. 1921-1944

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  5 Citations (Scopus)

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

  Djursby, M., Hansen, T. V. O., Wadt, K. A. W., Madsen, M. B., Berchtold, L. A., Lautrup, C. K., Markholt, S., Jensen, U. B., Krogh, L. N., Lundsgaard, M., Gerdes, A. M., Nilbert, M. & Therkildsen, C., 2022, In: Human Genetics. 141, p. 1925–1933

  Research output: Contribution to journal › Journal article › Research › peer-review
  1 Citation (Scopus)

• 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), 2022, In: Hereditary Cancer in Clinical Practice. 20, 36.

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  27 Citations (Scopus)

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• Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

  Hakkaart, C., Pearson, J. F., Marquart, L., Dennis, J., Wiggins, G. A. R., Barnes, D. R., Robinson, B. A., Mace, P. D., Aittomäki, K., Andrulis, I. L., Arun, B. K., Azzollini, J., Balmaña, J., Barkardottir, R. B., Belhadj, S., Berger, L., Blok, M. J., Boonen, S. E., Borde, J., Bradbury, A. R. & 36 others, Brunet, J., Buys, S. S., Caligo, M. A., Campbell, I., Chung, W. K., Claes, K. B. M., Collonge-Rame, M-A., Cook, J., Cosgrove, C., Couch, F. J., Daly, M. B., Dandiker, S., Davidson, R., de la Hoya, M., de Putter, R., Delnatte, C., Dhawan, M., Diez, O., Ding, Y. C., Domchek, S. M., Donaldson, A., Eason, J., Easton, D. F., Ehrencrona, H., Engel, C., Evans, D. G., Faust, U., Feliubadaló, L., Fostira, F., Hansen, T. V. O., Rossing, C. M., GEMO Study Collaborators, EMBRACE Collaborators, SWE-BRCA Investigators, kConFab Investigators & HEBON Investigators, 2022, In: Communications Biology . 5, 15 p., 1061.

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

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  6 Citations (Scopus)

  14 Downloads (Pure)

• Polygenic risk modeling for prediction of epithelial ovarian cancer risk

  Dareng, E. O., Tyrer, J. P., Barnes, D. R., Jones, M. R., Yang, X., Aben, K. K. H., Adank, M. A., Agata, S., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Aravantinos, G., Arun, B. K., Augustinsson, A., Balmaña, J., Bandera, E. V., Barkardottir, R. B., Barrowdale, D., Beckmann, M. W., Beeghly-Fadiel, A. & 39 others, Benitez, J., Bermisheva, M., Bernardini, M. Q., Bjorge, L., Black, A., Bogdanova, N. V., Bonanni, B., Borg, A., Brenton, J. D., Budzilowska, A., Butzow, R., Buys, S. S., Cai, H., Caligo, M. A., Campbell, I., Cannioto, R., Cassingham, H., Chang-Claude, J., Chanock, S. J., Chen, K., Chiew, Y. E., Chung, W. K., Claes, K. B. M., Colonna, S., Hansen, T. V. O., Høgdall, E., Høgdall, C. K., Jensen, A., Kjaer, S. K., Nielsen, F. C., GEMO Study Collaborators, GC-HBOC Study Collaborators, EMBRACE Collaborators, OPAL Study Group, AOCS Group, kConFab Investigators, HEBON Investigators, OCAC Consortium & CIMBA Consortium, 2022, In: European journal of human genetics : EJHG. 30, 3, p. 349-362 14 p.

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

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  29 Citations (Scopus)

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

  Foss-Skiftesvik, J., Stoltze, U. K., van Overeem Hansen, T., Ahlborn, L. B., Sørensen, E., Ostrowski, S. R., Kullegaard, S. M. A., Laspiur, A. O., Melchior, L. C., Scheie, D., Kristensen, B. W., Skjøth-Rasmussen, J., Schmiegelow, K., Wadt, K. & Mathiasen, R., 2022, In: Acta Neuropathologica Communications. 10, 123.

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

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• 2021

  Genomforskningsprojekt påviser TP53-mutation hos en pige med rabdomyosarkom

  Translated title of the contribution: Genome research project detected TP53mutation in a girl with rhabdomyosarcomaBehrendt-Møller, I., Stoltze, U., Hjalgrim, L. L., Hansen, T. V. O., Schmiegelow, K. & Wadt, K., 9 Aug 2021, In: Ugeskrift for Laeger. 183, 32, 4 p.

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• No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in mlh1 and msh2: A prospective lynch syndrome database study

  Dominguez-Valentin, M., Plazzer, J. P., Sampson, J. R., Engel, C., Aretz, S., Jenkins, M. A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Macrae, F., Winship, I. M., Thomas, H., Evans, D. G., Burn, J., Greenblatt, M., de Vos tot Nederveen Cappel, W. H., Sijmons, R. H., Nielsen, M., Bertario, L. & 69 others, Bonanni, B., Tibiletti, M. G., Cavestro, G. M., Lindblom, A., Della Valle, A., Lopez-Kostner, F., Alvarez, K., Gluck, N., Katz, L., Heinimann, K., Vaccaro, C. A., Nakken, S., Hovig, E., Green, K., Lalloo, F., Hill, J., Vasen, H. F. A., Perne, C., Büttner, R., Görgens, H., Holinski-Feder, E., Morak, M., Holzapfel, S., Hüneburg, R., Doeberitz, M. V. K., Loeffler, M., Rahner, N., Weitz, J., Steinke-Lange, V., Schmiegel, W., Vangala, D., Crosbie, E. J., Pineda, M., Navarro, M., Brunet, J., Moreira, L., Sánchez, A., Serra-Burriel, M., Mints, M., Kariv, R., Rosner, G., Piñero, T. A., Pavicic, W. H., Kalfayan, P., Ten Broeke, S. W., Mecklin, J. P., Pylvänäinen, K., Renkonen-Sinisalo, L., Lepistö, A., Peltomäki, P., Hopper, J. L., Win, A. K., Buchanan, D. D., Lindor, N. M., Gallinger, S., Marchand, L. L., Newcomb, P. A., Figueiredo, J. C., Thibodeau, S. N., Therkildsen, C., Hansen, T. V. O., Lindberg, L., Rødland, E. A., Neffa, F., Esperon, P., Tjandra, D., Möslein, G., Seppälä, T. T. & Møller, P., 2021, In: Journal of Clinical Medicine. 10, 13, 12 p., 2856.

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• Novel Genetic Causes of Gastrointestinal Polyposis Syndromes

  Jelsig, A. M., Byrjalsen, A., Madsen, M. B., Kuhlmann, T. P., Hansen, T. V. O., Wadt, K. A. W. & Karstensen, J. G., 2021, In: Application of Clinical Genetics. 14, p. 455-466 12 p.

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• Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel

  Byrjalsen, A., Diets, I. J., Bakhuizen, J., Hansen, T. V. O., Schmiegelow, K., Gerdes, A-M., Stoltze, U., Kuiper, R. P., Merks, J. H. M., Wadt, K. & Jongmans, M., 2021, In: Familial Cancer. 20, 4, p. 279-287 9 p.

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• 2018

  MicroRNA dysregulation in adenoid cystic carcinoma of the salivary gland in relation to prognosis and gene fusion status: a cohort study

  Andreasen, S., Tan, Q., Agander, T. K., Hansen, T. V. O., Steiner, P., Bjørndal, K., Høgdall, E., Larsen, S. R., Erentaite, D., Olsen, C. H., Ulhøi, B. P., Heegaard, S., Wessel, I. & Homøe, P., Sep 2018, In: Virchows Archiv. 473, 3, p. 329-340

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• 2016

  Validation study of HPV DNA detection from stained FNA smears by polymerase chain reaction: Improving the diagnostic workup of patients with a tumor on the neck

  Channir, H. I., Larsen, C. G., Ahlborn, L. B., Hansen, T. V. O., Gerds, T. A., Charabi, B. W., Vainer, B., von Buchwald, C., Lajer, C. B. & Kiss, K., Nov 2016, In: Cancer Cytopathology. 124, 11, p. 820-827 8 p.

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• 2014

  IMP3 RNP safe houses prevent miRNA-directed HMGA2 mRNA decay in cancer and development

  Jønson, L., Christiansen, J., Hansen, T. V. O., Vikeså, J., Yamamoto, Y. & Nielsen, F. C., 2014, In: Cell Reports. 7, 2, p. 539-551 13 p.

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• The genetic prehistory of the New World Arctic

  Raghavan, M., DeGiorgio, M., Albrechtsen, A., Moltke, I., Skoglund, P., Korneliussen, T. S., Grønnow, B., Appelt, M., Gulløv, H. C., Friesen, T. M., Fitzhugh, W., Malmström, H. S., Rasmussen, S., Olsen, J., Melchior, L. C., Fuller, B. T., Fahrni, S. M., Stafford jr., T., Grimes, V., Renouf, M. A. P. & 36 others, Cybulski, J., Lynnerup, N., Lahr, M. M., Britton, K., Knecht, R., Arneborg, J., Metspalu, M., Cornejo, O. E., Malaspinas, A. S., Wang, Y., Rasmussen, M., Raghavan, V., Hansen, T. V. O., Khusnutdinova, E., Pierre, T. L., Dneprovsky, K., Andreasen, C., Lange, H., Hayes, M. G., Coltrain, J., Spitsyn, V. A., Götherström, A., Orlando, L. A. A., Kivisild, T., Villems, R., Crawford, M. H., Nielsen, F. C., Dissing, J., Heinemeier, J., Meldgaard, M., Bustamante, C., O'Rourke, D. H., Jakobsson, M., Gilbert, M. T. P., Nielsen, R. & Willerslev, E., 2014, In: Science. 345, 6200, 9 p.

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• 2013

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

  Larsen, M. J., Kruse, T. A., Tan, Q., Lænkholm, A-V., Bak, M., Lykkesfeldt, A. E., Sørensen, K. P., Hansen, T. V. O., Ejlertsen, B., Gerdes, A-M. & Thomassen, M., 2013, In: P L o S One. 8, 5, 12 p., e64268.

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  88 Citations (Scopus)

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

  Petersen, S. M., Dandanell, M., Rasmussen, L. J., Gerdes, A-M., Krogh, L. N., Bernstein, I., Okkels, H., Wikman, F., Nielsen, F. C. & Hansen, T. V. O., 2013, In: BMC Medical Genetics. 14, p. 103

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• Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31

  Permuth-Wey, J., Lawrenson, K., Shen, H. C., Velkova, A., Tyrer, J. P., Chen, Z., Lin, H-Y., Chen, Y. A., Tsai, Y-Y., Qu, X., Ramus, S. J., Karevan, R., Lee, J., Lee, N., Larson, M. C., Aben, K. K., Anton-Culver, H., Antonenkova, N., Antoniou, A. C., Armasu, S. M. & 160 others, Bacot, F., Baglietto, L., Bandera, E. V., Barnholtz-Sloan, J., Beckmann, M. W., Birrer, M. J., Bloom, G., Bogdanova, N., Brinton, L. A., Brooks-Wilson, A., Brown, R. J. J., Butzow, R., Cai, Q., Campbell, I., Chang-Claude, J., Chanock, S., Chenevix-Trench, G., Cheng, J. Q., Cicek, M. S., Coetzee, G. A., Cook, L. S., Couch, F. J., Cramer, D. W., Cunningham, J. M., Dansonka-Mieszkowska, A., Despierre, E., Doherty, J. A., Dörk, T., du Bois, A., Dürst, M., Easton, D. F., Eccles, D., Edwards, R., Ekici, A. B., Fasching, P. A., Fenstermacher, D. A., Flanagan, J. M., Garcia-Closas, M., Gentry-Maharaj, A., Giles, G. G., Glasspool, R. M., Gonzalez-Bosquet, J., Goodman, M. T., Gore, M., Górski, B., Gronwald, J., Hall, P., Halle, M. K., Harter, P., Heitz, F., Hillemanns, P., Hoatlin, M., Høgdall, C. K., Høgdall, E., Hosono, S., Jakubowska, A., Jensen, A., Jim, H., Kalli, K. R., Karlan, B. Y., Kaye, S. B., Kelemen, L. E., Kiemeney, L. A., Kikkawa, F., Konecny, G. E., Krakstad, C., Kjaer, S. K., Kupryjanczyk, J., Lambrechts, D., Lambrechts, S., Lancaster, J. M., Le, N. D., Leminen, A., Levine, D. A., Liang, D., Lim, B. K., Lin, J., Lissowska, J., Lu, K. H., Lubi?ski, J., Lurie, G., Massuger, L. F. A. G., Matsuo, K., McGuire, V., McLaughlin, J. R., Menon, U., Modugno, F., Moysich, K. B., Nakanishi, T., Narod, S. A., Nedergaard, L., Ness, R. B., Nevanlinna, H., Nickels, S., Noushmehr, H., Odunsi, K., Olson, S. H., Orlow, I., Paul, J., Pearce, C. L., Pejovic, T., Pelttari, L. M., Pike, M. C., Poole, E. M., Raska, P., Renner, S. P., Risch, H. A., Rodriguez-Rodriguez, L., Rossing, M. A., Rudolph, A., Runnebaum, I. B., Rzepecka, I. K., Salvesen, H. B., Schwaab, I., Severi, G., Shridhar, V., Shu, X-O., Shvetsov, Y. B., Sieh, W., Song, H., Southey, M. C., Spiewankiewicz, B., Stram, D., Sutphen, R., Teo, S-H., Terry, K. L., Tessier, D. C., Thompson, P. J., Tworoger, S. S., van Altena, A. M., Vergote, I., Vierkant, R. A., Vincent, D., Vitonis, A. F., Wang-Gohrke, S., Palmieri Weber, R., Wentzensen, N., Whittemore, A. S., Wik, E., Wilkens, L. R., Winterhoff, B., Woo, Y. L., Wu, A. H., Xiang, Y-B., Yang, H. P., Zheng, W., Ziogas, A., Zulkifli, F., Phelan, C. M., Iversen, E., Schildkraut, J. M., Berchuck, A., Fridley, B. L., Goode, E. L., Pharoah, P. D. P., Monteiro, A. N. A., Sellers, T. A., Gayther, S. A., Study, A. C. & Hansen, T. V. O., 2013, In: Nature Communications. 4, p. 1-12 1627.

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