ea0065p132 | Endocrine Neoplasia and Endocrine Consequences of Living with and Beyond Cancer | SFEBES2019
Vennard Hannah
, Maroteau Cyrielle
, Berg Jonathan
, Goudie David
, Palmer Colin
, Newey Paul
Background: Identifying individuals harbouring germline mutations in hereditary cancer genes provides opportunities for tumour surveillance programs, disease-specific treatment and cascade testing in family members but is reliant on accurate variant interpretation, which may be confounded by imprecise methods for ascribing pathogenicity. Where insufficient evidence supports a definitive classification, variant of uncertain significance (VUS) status is applied, whic...