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Genomforskningsprojekt påviser TP53-mutation hos en pige med rabdomyosarkom

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@article{61eac35883fc40148b20f11ceb724597,
title = "Genomforskningsprojekt p{\aa}viser TP53-mutation hos en pige med rabdomyosarkom",
abstract = "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.",
keywords = "Child, Child, Preschool, Female, Genes, p53/genetics, Genetic Predisposition to Disease, Germ-Line Mutation, Humans, Li-Fraumeni Syndrome/genetics, Pedigree, Rhabdomyosarcoma/genetics",
author = "Ida Behrendt-M{\o}ller and Ulrik Stoltze and Hjalgrim, {Lisa Lyngsie} and Hansen, {Thomas van Overeem} and Kjeld Schmiegelow and Karin Wadt",
year = "2021",
month = aug,
day = "9",
language = "Dansk",
volume = "183",
journal = "Ugeskrift for Laeger",
issn = "0041-5782",
publisher = "Almindelige Danske Laegeforening",
number = "32",

}

RIS

TY - JOUR

T1 - Genomforskningsprojekt påviser TP53-mutation hos en pige med rabdomyosarkom

AU - Behrendt-Møller, Ida

AU - Stoltze, Ulrik

AU - Hjalgrim, Lisa Lyngsie

AU - Hansen, Thomas van Overeem

AU - Schmiegelow, Kjeld

AU - Wadt, Karin

PY - 2021/8/9

Y1 - 2021/8/9

N2 - 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.

AB - 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.

KW - Child

KW - Child, Preschool

KW - Female

KW - Genes, p53/genetics

KW - Genetic Predisposition to Disease

KW - Germ-Line Mutation

KW - Humans

KW - Li-Fraumeni Syndrome/genetics

KW - Pedigree

KW - Rhabdomyosarcoma/genetics

M3 - Tidsskriftartikel

C2 - 34378529

VL - 183

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

SN - 0041-5782

IS - 32

ER -

ID: 67848833