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Lobular Breast Cancer in a CDH1 Splice Site Mutation Carrier: Case Report and Review of the Literature

โœ Scribed by McVeigh, Terri P.; Choi, Joon K.; Miller, Nicola M.; Green, Andrew J.; Kerin, Michael J.

Book ID
122154906
Publisher
CIG Media Group, LP.
Year
2014
Tongue
English
Weight
313 KB
Volume
14
Category
Article
ISSN
1526-8209

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Splice mutations in the p53 gene (TP53) are described as rare events that occur at a frequency of less than 1%. Using a functional assay based on the transcriptional activity of p53 and using RNA as starting material, we describe here a p53 splice mutation that could not be detected by genomic seque