TY - CHAP M1 - Book, Section TI - PTEN Syndromes A1 - Eng, Charis A2 - Murray, Michael F. A2 - Babyatsky, Mark W. A2 - Giovanni, Monica A. A2 - Alkuraya, Fowzan S. A2 - Stewart, Douglas R. PY - 2014 T2 - Clinical Genomics: Practical Applications in Adult Patient Care AB - Disease summary:The PTEN syndromes or PTEN hamartoma tumor syndromes (PHTS) include all disorders that have germline PTEN mutations.PHTS includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), Proteus syndrome (PS), and Proteus-like syndrome.Typically, PHTS is characterized by hamartomas that can affect derivatives of all three germ layers and a high risk of breast and thyroid cancers. CS is a multiple hamartoma syndrome with a high risk of benign and malignant tumors of the thyroid, breast, and endometrium.BRRS is a congenital disorder characterized by macrocephaly, intestinal polyposis, lipomas, and pigmented macules of the glans penis.PS is a complex, highly variable disorder involving congenital malformations and overgrowth of multiple tissues.Proteus-like syndrome is undefined but refers to individuals with significant clinical features of PS who do not meet the diagnostic criteria for PS. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accessbiomedicalscience.mhmedical.com/content.aspx?aid=1102700929 ER -