Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours.

We describe two Li-Fraumeni syndrome families. Family A was remarkable for two early childhood cases of adrenocortical tumours, family B for a high incidence of many characteristic cancers, including a childhood case of choroid plexus tumour. Using direct sequencing, we analysed exons 5-9 of the p53...

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Main Authors: Sedlacek, Z., Kodet, R., Kriz, V., Seemanova, E., Vodvarka, P., Wilgenbus, P., Mares, J., Poustka, A., Goetz, P.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 1998
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2150131/
https://ncbi.nlm.nih.gov/pubmed/9569035
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