title: Rare and unusual endocrine cancer syndromes with mutated genes.
abstract: The study of a number of rare familial syndromes associated with endocrine tumor development has led to the identification of genes involved in the development of these tumors. Major advances have expanded our understanding of the pathophysiology of these rare endocrine tumors, resulting in the elucidation of causative genes in rare familial diseases and a better understanding of the signaling pathways implicated in endocrine cancers. Recognition of the familial syndrome associated with a particular patient's endocrine tumor has important implications in terms of prognosis, screening of family members, and screening for associated conditions.
authors.affiliation: Section on Endocrinology Genetics, Program on Developmental Endocrinology Genetics, Eunice Kennedy Shriver National Institute of Child Health & Human Development, and Pediatric Endocrinology Inter-Institute Training Program, National Institutes of Health, Bethesda, MD, USA. lodishma@mail.nih.gov
authors.forename: Maya B
authors.initials: MB
authors.lastname: Lodish
authors.forename: Constantine A
authors.initials: CA
authors.lastname: Stratakis
mesh_terms: D000306:Adrenal Cortex Neoplasms / Q000175:diagnosis / Q000235:genetics; D056733:Carney Complex / Q000175:diagnosis / Q000235:genetics; D004701:Endocrine Gland Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D006222:Hamartoma / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis* / Q000235:genetics*; D010190:Pancreatic Neoplasms / Q000175:diagnosis / Q000235:genetics; D035583:Rare Diseases