PTEN and PTEN hamartoma tumor syndrome: In this family, the heterozygous PTEN variant NM_000314.4:c.-1026C>A (rs34149102 A allele) seems to be associated with the clinical findings of the index patient (macrocephaly, multiple oral papillomas, lipomas, and GEJ adenocarcinoma) and his relatives (breast cancer), which are, in part, included in the phenotypic spectrum of PHTS [17,18].