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Rigshospitalet - a part of Copenhagen University Hospital
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Genomforskningsprojekt påviser TP53-mutation hos en pige med rabdomyosarkom

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  2. Intracerebral hæmoragi tolv dage efter vaccination med ChAdOx1 nCoV-19

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  3. Methods for collecting upper respiratory tract specimens for COVID-19 diagnostics

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  4. Kongenitte portosystemiske shunter, diagnose og behandling af en multisystemisk sygdom hos børn

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

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  2. Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel

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

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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