Optimal age for genetic cancer predisposition testing in hereditary SMARCA4 Ovarian Cancer Families: How young is too young?

Abstract

Small cell carcinoma of the ovary, hypercalcemic type is a rare, aggressive, and typically fatal ovarian cancer that primarily affects young women less than 40 years of age. It is caused by a pathogenic variant in the SMARCA4 gene, with nearly half of patients found to have germline pathogenic variants and the remainder demonstrating somatic SMARCA4 pathogenic variants. This case report discusses an illustrative case and explores the existing data and potential recommendations to optimize timing of genetic testing in family members, given the presence of a familial germline pathogenic variant.