The evolutionary impact of childhood cancer on the human gene pool

Autor: Ulrik Kristoffer Stoltze, Jon Foss-Skiftesvik, Thomas van Overeem Hansen, Simon Rasmussen, Konrad J. Karczewski, Karin A. W. Wadt, Kjeld Schmiegelow

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)

Abstract Germline pathogenic variants associated with increased childhood mortality must be subject to natural selection. Here, we analyze publicly available germline genetic metadata from 4,574 children with cancer [11 studies; 1,083 whole exome seq

Externí odkaz: https://doaj.org/article/44ad7b303f0e4a00a17437b7cb267b94

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

Autor: Ulrik Kristoffer Stoltze, Mathis Hildonen, Thomas Van Overeem Hansen, Jon Foss-Skiftesvik, Anna Byrjalsen, Malene Lundsgaard, Laura Pignata, Karen Grønskov, Asuman Z Tumer, Kjeld Schmiegelow, Jesper Sune Brok, Karin A W Wadt

Publikováno v: Stoltze, U K, Hildonen, M, Hansen, T V O, Foss-Skiftesvik, J, Byrjalsen, A, Lundsgaard, M, Pignata, L, Grønskov, K, Tumer, A Z, Schmiegelow, K, Brok, J S & Wadt, K A W 2023, ' Germline (epi)genetics reveals high predisposition in females : a 5-year, nationwide, prospective Wilms tumour cohort ', Journal of Medical Genetics . https://doi.org/10.1136/jmg-2022-108982

Background: Studies suggest that Wilms tumours (WT) are caused by underlying genetic (5%-10%) and epigenetic (2%-29%) mechanisms, yet studies covering both aspects are sparse.Methods: We performed prospective whole-genome sequencing of germline DNA i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51a1ba43d3f730b43d1c0cda88fb5d16
https://vbn.aau.dk/da/publications/fd07e57e-1ff3-4d35-988f-acaaa74ae55c

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

Autor: Malene Djursby, Thomas van Overeem Hansen, Karin A. W. Wadt, Majbritt Busk Madsen, Lukas Adrian Berchtold, Charlotte Kvist Lautrup, Sara Markholt, Uffe Birk Jensen, Lotte Nylandsted Krogh, Malene Lundsgaard, Anne Marie Gerdes, Mef Nilbert, Christina Therkildsen

Publikováno v: 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, ' Clinical implications of genetic testing in familial intermediate and late-onset colorectal cancer ', Human Genetics, vol. 141, no. 12, pp. 1925-1933 . https://doi.org/10.1007/s00439-022-02470-9

The genetic background of familial, late-onset colorectal cancer (CRC) (i.e., onset > age 50 years) has not been studied as thoroughly as other subgroups of familial CRC, and the proportion of families with a germline genetic predisposition to CRC re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d05a1a4599e157cef5c95df6ff64e5e2
https://pure.au.dk/portal/da/publications/clinical-implications-of-genetic-testing-in-familial-intermediate-and-lateonset-colorectal-cancer(b2eeb2a3-7f4e-4abd-8ba6-d33e667346f8).html

Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting

Autor: Ulrik Kristoffer, Stoltze, Thomas Van Overeem, Hansen, Jesper Sune, Brok, Karen, Grønskov, Asuman Z, Tumer, Lise Barlebo, Ahlborn, Kjeld, Schmiegelow, Karin A W, Wadt

Publikováno v: Journal of medical genetics.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::78778e1218b1542ca590831c4b324a2f
https://pubmed.ncbi.nlm.nih.gov/35772845

Melanoma genetics

Autor: Jazlyn Read, Karin A W Wadt, Nicholas K Hayward

Publikováno v: Journal of Medical Genetics. 53:1-14

Approximately 10% of melanoma cases report a relative affected with melanoma, and a positive family history is associated with an increased risk of developing melanoma. Although the majority of genetic alterations associated with melanoma development

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4768e3b35a2bcb92e2a84c291e46b0fc
https://doi.org/10.1136/jmedgenet-2015-103150