Article
High frequency of RPL22 mutations in microsatellite-unstable colorectal and endometrial tumors.
Human mutation - 1 Dec 2014
Ferreira Ana M, Tuominen Iina, van Dijk-Bos Krista, Sanjabi Bahram, van der Sluis Tineke, van der Zee Ate G, Hollema Harry, Zazula Monika, Sijmons Rolf H, Aaltonen Lauri A, Westers Helga, Hofstra Robert M W
Abstract excerpt
Ribosomal Protein L22 (RPL22) encodes a protein that is a component of the 60S subunit of the ribosome. Variants in this gene have recently been linked to cancer development. Mutations in an A8 repeat in exon 2 were found in a recent study in 52% of microsatellite-unstable endometrial tumors. These tumors are particularly prone to mutations in repeats due to mismatch repair deficiency. We screened this coding...
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