GENETICS OF COWDEN-SYNDROME - THROUGH THE LOOKING-GLASS OF ONCOLOGY (REVIEW)

Cowden syndrome (CS) is an autosomal dominant inherited syndrome chara cterised by hamartoma development in multiple organs and a risk of bre ast, thyroid and other cancers. The susceptibility gene for this syndr ome was mapped to 10q22-23. Subsequently, germline mutations in PTEN, which encodes a dual specificity phosphatase, were found in individual s and families with CS. With the identification of the CS susceptibili ty gene, DNA-based predictive testing may be offered in theory. Somati c mutations in PTEN have been described in sporadic thyroid tumors, en dometrial carcinomas, prostate carcinomas and glioblastoma multiforme. Although initial analyses suggest that the presence of somatic PTEN a lterations appear to be associated with more advanced disease in carci nomas of the prostate and brain, this does not appear to be the case i n epithelial thyroid tumors.