Endocrine Abstracts

Introduction: Familial Adenomatous Polyposis (FAP) is an autosomal dominant disease classically characterized by the development of hundreds or thousands of adenomas in the rectum and colon during the second decade of life. Almost all patients will develop colorectal cancer (CRC) if not identified and treated at an early stage. It is a multisystem growth disorder so there is an increased risk of developing extraintestinal manifestations. In this context, an increase in adrenal...

Introduction: MUTYH (MutY homolog Escherichia coli, homolog of MYH, hMYH) is a repair enzyme with a crucial role in the correction of DNA errors, being considered a protective factor of the cell. MUTYH mutations have been linked to MUTYH-associated polyposis syndrome (MAP), an autosomal recessive disorder characterized by multiple colorectal adenomas. Patients with MAP show a much higher lifetime risk of gastrointestinal cancers as an additional role of MUTYH, it appears to co...