Endocrine Abstracts

The PTEN gene is a tumour suppressor gene with high risk of breast, thyroid, endometrial, colorectal, kidney tumours and melanoma, mucocutaneous lesions, macular pigmentation, and macrocephaly. Germ line heterozygous pathogenic variants in this gene leads to a spectrum of disease now called PTEN hamartoma tumour syndrome (PHTS). Cowden syndrome (the predominant phenotype of PHTS) is estimated to affect 1:200,000 individuals - however it may be under-diagnosed. Guidelines for s...