Number of rare germline CNVs and TP53 mutation types

Abstract

BACKGROUND The Li-Fraumeni syndrome (LFS), an inherited rare cancer predisposition syndrome characterized by a variety of early-onset tumors, is caused by different highly penetrant germline mutations in the TP53 gene; each separate mutation has dissimilar functional and phenotypic effects, which partially clarifies the reported heterogeneity between LFS… (More)
DOI: 10.1186/1750-1172-7-101

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