Article
TP53, MSH4, and LATS1 germline mutations in a family with clustering of nervous system tumors.
The American journal of pathology - 1 Sept 2014
Kim Young-Ho, Ohta Takashi, Oh Ji Eun, Le Calvez-Kelm Florence, McKay James, Voegele Catherine, Durand Geoffroy, Mittelbronn Michel, Kleihues Paul, Paulus Werner, Ohgaki Hiroko
Abstract excerpt
Exome DNA sequencing of blood samples from a Li-Fraumeni family with a TP53 germline mutation (codon 236 deletion) and multiple nervous system tumors revealed additional germline mutations. Missense mutations in the MSH4 DNA repair gene (c.2480T>A; p.I827N) were detected in three patients with gliomas (two anaplastic astrocytomas, two glioblastomas). Two family members without a TP53 germline mutation who...
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