PTEN and Cowden disease: The PTEN variant (chr10: 87925568 T > G, c.209 + 11 T > G) is located in intron 3 of the main PTEN transcript, a region in which similar alterations has been judged as pathogenic and coupled to the skipping of exons 3 and/or 4 in subsets of Cowden syndrome patients [12].