400981 Lecture Notes - Lecture 23: Familial Adenomatous Polyposis, Tuberous Sclerosis, Tumor Suppressor Gene

• School: UWS
• Department: University of Western Sydney
• Course: 400981
• Professor: unknown

Document Summary

Cowden syndrome is an autosomal dominant genetic disorder characterised by multiple benign hamartomas as well as a predisposition for cancers of multiple organs including the breast and thyroid. Bannayan-riley-ruvalcaba syndrome is a congenital disorder characterised by hamartomatous intestinal polyposis, macrocephaly, lipomatosis, hemoangiomatosis and glans penis macules. Proteus syndrome is characterised by nevi, asymmetric overgrowth of various body parts, adipose tissue dysregulation, cystadenomas, adenomas, vascular malformation. Familial adenomatous polyposis (fap) is a familial cancer syndrome caused by mutations in the apc gene. In this disorder adenomatous polyps are present in the colonthat will progress into colon cancer unless removed. The apc gene is a tumour suppressor its protein product is involved in many cellular processes. Inactivation of the apc gene leads to the buildup of a protein which activates two transcription factors: t- cell factor (tcf) and lymphoid enhancer factor (lef). This disorder presents with many benign hamartomatous tumours including angiofibromas, renal angiomyolipomas, pulmonary lymphangiomyomatosis.