title: 5th International ACC Symposium: Hereditary Predisposition to Childhood ACC and the Associated Molecular Phenotype: 5th International ACC Symposium Session: Not Just for Kids!
abstract: Adrenocortical carcinoma (ACC) affects children and adults. Roughly 50% of very early onset ACCs occur in children with germline TP53 mutations. Several recent studies have extended our understanding in basic, clinical, and translational genetics with regard to TP53 germline predisposition in ACC patients. The recent description of the molecular landscape of pediatric ACCs provided insight into differences of tumors arising in patients with and without TP53 germline mutation. Another recent important finding is that not all TP53 mutations are equal in their tumor suppressing potential. It has now been shown that family histories as well as molecular characteristics of preserved TP53 functions vary greatly between mutations. It also has become clear that adult patients with ACC often harbor germline mutations causing hereditary syndromes, including Li-Fraumeni syndrome (LFS), Lynch syndrome, and multiple endocrine neoplasia type 1 (MEN1).
authors.affiliation: Division of Metabolism, Endocrinology and Diabetes (MEND), University of Michigan Health System, 2560E, MSRB2, 1500 East Medical Center Dr, Ann Arbor, MI, 48109-5674, USA. telse@umich.edu.
authors.forename: Tobias
authors.initials: T
authors.lastname: Else
authors.affiliation: Department of Global Pediatric Medicine, St Jude Children's Research Hospital, Memphis, TN, USA.|Department of Oncology, St Jude Children's Research Hospital, Memphis, TN, USA.
authors.forename: Carlos
authors.initials: C
authors.lastname: Rodriguez-Galindo
mesh_terms: D000293:Adolescent; D000306:Adrenal Cortex Neoplasms / Q000175:diagnosis / Q000235:genetics*; D018268:Adrenocortical Carcinoma / Q000175:diagnosis / Q000235:genetics*; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics; D003226:Congresses as Topic; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D007223:Infant; D016864:Li-Fraumeni Syndrome / Q000235:genetics; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
chemical_list: C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53