High frequency of de novo mutations in Li-Fraumeni syndrome

Li-Fraumeni syndrome is an autosomal dominant cancer predisposition syndrome caused by germline mutations in the TP53 gene. The frequency of germline de novo TP53 mutations is largely unknown; few unequivocal de novo mutations have been reported. Of 341 patients with early onset cancer sent for clin...

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Veröffentlicht in:	Journal of medical genetics 2009-10, Vol.46 (10), p.689-jmg
Hauptverfasser:	Gonzalez, Kelly D., Buzin, Carolyn, Noltner, Katie A, Gu, Dongqing, Li, Wenyan, Malkin, David, Sommer, Steve
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Biological and medical sciences Cancer Child Child, Preschool Female Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetic Predisposition to Disease Genetics of eukaryotes. Biological and molecular evolution Germ-Line Mutation Humans Li-Fraumeni syndrome Li-Fraumeni Syndrome - complications Li-Fraumeni Syndrome - genetics Male Medical genetics Medical sciences Middle Aged Molecular and cellular biology Multiple tumors. Solid tumors. Tumors in childhood (general aspects) Mutation Mutation, Missense p53 Protein Tumor Suppressor Protein p53 - genetics Tumors
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