Searchable abstracts of presentations at key conferences in endocrinology

ea0094p276 | RET | SFEBES2023

RET p.Val804Met: A study in genetic uncertainty

Boon Oh Han , Abdel-Aziz Tarek , Brain Caroline , Rozalen Garcia Virginia , Butler Colin , Stoneham Sara , R Kurzawinski Tom

Introduction: Pathogenic RET mutations cause Multiple Endocrine Neoplasia type 2 (MEN2) and sixty-one have been classified according to their penetrance of MTC. However, this distinct pattern of genotype-phenotype presentations is not always precisely predictable. P.Val804Met, the most frequent mutation in RET, is currently thought to confer a low lifetime risk with later onset of MTC.Methodology: We present demographica...