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Further evidence for pathogenicity of the TP53 tetramerization domain mutation p.Arg342Pro in Li-Fraumeni syndrome.

Familial cancer - 1 Mar 2015

Etzold Anna, Schröder Julia C, Bartsch Oliver, Zechner Ulrich, Galetzka Danuta

Abstract excerpt

Li-Fraumeni syndrome (LFS) is a rare genetic disease with a highly significant predisposition to multiple early-onset neoplasms. These neoplasms include adrenocortical carcinoma, sarcoma, leukemia and CNS tumors in children and sarcoma, breast cancer and lung cancer in adults. LFS is inherited in an autosomal dominant manner. In most patients germline mutations in the tumor suppressor gene TP53 are found. As the...

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PMID: 25226867
DOI: 10.1007/s10689-014-9754-z

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