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A child withLi–Fraumeni syndrome:Modes to inactivatethe second allele ofTP53 in threedifferentmalignancies Brigitte SchlegelbergerHans KreipeUlrich Lehmann2015 год

A child with Li–Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies
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Аннотация: Here we report on a child with Li–Fraumeni syndrome with a de novo TP53 mutation c.818G > A, who developed three malignancies at the age of 4 months, 4 and 5 years, respectively. We show that (i) in the choroid plexus carcinoma, the germline mutation was detected in a homozygous state due to copy‐neutral LOH/uniparental disomy, (ii) in the secondary AML, a complex karyotype led to loss of the wild‐type TP53 allele, (iii) in the Wilms tumor, the somatic mutation c.814G > A led to compound heterozygosity. The findings show that the complete inactivation of TP53 by different mechanisms is an important step towards tumorigenesis. Pediatr Blood Cancer 2015;62:1481–1484. © 2015 Wiley Periodicals, Inc.
Год издания: 2015
Авторы: Brigitte Schlegelberger, Hans Kreipe, Ulrich Lehmann, Doris Steinemann, Tim Ripperger, Gudrun Göhring, Kathrin Thomay, Andreas Rump, Nataliya Di Donato, Meinolf Suttorp
Издательство: Wiley
Источник: Pediatric Blood & Cancer
Ключевые слова: Cancer-related Molecular Pathways, Hedgehog Signaling Pathway Studies, Cell death mechanisms and regulation
Другие ссылки: Pediatric Blood & Cancer (HTML)
PubMed (HTML)