PTEN and Cowden disease: Among the four already described mutations, the nonsense variant c.1003C > T; p.Arg335* in the PTEN gene was present in dbSNP (rs121909231) with an allelic frequency of 0.0007%, and in the HGMD-(CM971278- Cowden 1 Syndrome) and was described as class 4-likely pathogenic; the missense variant c.83T > C; p. Ile28Thr was in a functional domain, reported in the dbSNP database (rs1355570425) with an allelic frequency of 0.00040% and was classified as class 4-likely pathogenic.