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: Cancer is the result of genetic and epigenetic alterations generating uncontrolled cell growth. These molecular changes maintain an immunosuppressive microenvironment allowing tumor spread. Immune checkpoint inhibitors (ICI) are novel therapeutic strategies in cancer treatment, promoting anti-tumor response by boosting cytotoxic T lymphocytes. Despite their high effectiveness, they can trigger the activation of diverse autoimmune diseases in genetically predispos...

Introduction: Familial Adenomatous Polyposis (FAP) syndrome is an autosomal dominant disorder associated with a high risk of multiple intestinal and extraintestinal cancers. They develop hundreds or thousands of adenomas in the rectum and colon during the second decade of life that. If they are not identified and treated, almost all patients develop colorectal cancer (CRC) and die by the age of 40-50 years. Thyroid carcinoma is a FAP manifestation with an unknown reported high...

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...

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...

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...