Searchable abstracts of presentations at key conferences in endocrinology

ea0065p146 | Endocrine Neoplasia and Endocrine Consequences of Living with and Beyond Cancer | SFEBES2019

Frequency of pathogenic germline variants in hereditary endocrine tumour genes in patients with discordant cancer phenotypes

Vennard Hannah , Maniam Pavithran , Berg Jonathan , Goudie David , Newey Paul

Background: Advances in next-generation sequencing facilitate the simultaneous evaluation of large numbers of cancer predisposition genes (CPGs) in patients with cancer irrespective of family history or tumour phenotype. Several studies have reported the frequent occurrence of germline mutations in CPGs in patients with discordant cancer types raising the possibility of novel gene-cancer associations. The current study aimed to evaluate the significance of germline mutations i...