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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Genomforskningsprojekt påviser TP53-mutation hos en pige med rabdomyosarkom

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  1. Kirurgisk behandling ved kvindelig infertilitet

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  2. Surfactant therapy of respiratory distress syndrome

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  3. DBCG Kvalitetsdatabase for Brystkræft – resumé af årsrapport 2020

    Research output: Contribution to journalJournal articleCommunication

  4. Nærdødsoplevelser

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  5. Hjertestop hos en patient med langt QT-syndrom i androgendeprivationsterapi

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  1. Increments in DNA-thioguanine level during thiopurine enhanced maintenance therapy of acute lymphoblastic leukemia

    Research output: Contribution to journalJournal articleResearchpeer-review

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

    Research output: Contribution to journalReviewResearchpeer-review

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In this case report, a germ line genome project identified a pathogenic variant in TP53 in a three-year-old girl diagnosed with rhabdomyosarcoma. The variant causes the cancer predisposition syndrome Li-Fraumeni syndrome (LFS). The girl's family was genetically counselled, and the same variant was identified in her mother and sister. The family was afterwards offered surveillance according to national guidelines. With this report, we want to focus on cancer predisposition syndromes and to discuss the benefits regarding surveillance of children with LFS.

Translated title of the contributionGenome research project detected TP53mutation in a girl with rhabdomyosarcoma
Original languageDanish
JournalUgeskrift for Laeger
Volume183
Issue number32
ISSN0041-5782
Publication statusPublished - 9 Aug 2021

ID: 67848833