Genomforskningsprojekt påviser TP53-mutation hos en pige med rabdomyosarkom
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Genomforskningsprojekt påviser TP53-mutation hos en pige med rabdomyosarkom. / Behrendt-Møller, Ida; Stoltze, Ulrik; Hjalgrim, Lisa Lyngsie; Hansen, Thomas van Overeem; Schmiegelow, Kjeld; Wadt, Karin.
I: Ugeskrift for Laeger, Bind 183, Nr. 32, 09.08.2021.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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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: 305553308