Pathogenic germline variants in <scp><i>SMARCA4</i></scp> and further cancer predisposition genes in early onset ovarian cancer
N Herold, Johanna Sophie Schmolling, Corinna Ernst, Beyhan Ataseven, Britta Blümcke, Birgid Schömig‐Markiefka, Sebastian Heikaus, Uwe‐Jochen Göhring, Christoph Engel, Björn Lampe, Kerstin Rhiem, Philipp Harter, Jan Hauke, Rita K. Schmutzler, Eric Hahnen
Abstract
To assess the role of germline pathogenic variants (PVs) in SMARCA4 and further established ovarian cancer (OC) predisposition genes in early onset OC, we investigated a clinical cohort of 206 unrelated OC index patients with an age at diagnosis of OC ≤40 years using an extended panel of 24 (candidate) cancer predisposition genes. PVs in established OC predisposition genes were most frequent in patients with high grade serous OC (21/62, 33.9%), comparatively rare in patients with epithelial OC other than high grade serous (5/74, 6.8%) or borderline ovarian tumours (2/39, 5.1%) and absent in mucinous OC (0/27). We demonstrate that germline PVs in SMARCA4 unlikely predispose for early onset OC other than SCCOHT.