Pathogenic germline variants in SMARCA4 and further cancer predisposition genes in early onset ovarian cancer

Herold, Natalie; Schmolling, Johanna; Ernst, Corinna; Ataseven, Beyhan; Blümcke, Britta; Schömig-Markiefka, Birgid; Heikaus, Sebastian; Göhring, Uwe-Jochen; Engel, Christoph; Lampe, Bjoern; Rhiem, Kerstin; Harter, Philipp; Hauke, Jan; Schmutzler, Rita K.; Hahnen, Eric

Pathogenic germline variants in SMARCA4 and further cancer predisposition genes in early onset ovarian cancer

Herold N, Schmolling J, Ernst C, Ataseven B, Blümcke B, Schömig-Markiefka B, Heikaus S, Göhring U-J, Engel C, Lampe B, Rhiem K, et al. (2023)
Cancer Medicine .

Zeitschriftenaufsatz | E-Veröff. vor dem Druck | Englisch

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DOI

https://doi.org/10.1002/cam4.6214

Autor*in

Herold, Natalie; Schmolling, Johanna; Ernst, Corinna; Ataseven, Beyhan^UniBi; Blümcke, Britta; Schömig-Markiefka, Birgid; Heikaus, Sebastian; Göhring, Uwe-Jochen; Engel, Christoph; Lampe, Bjoern; Rhiem, Kerstin; Harter, Philipp
Alle

Einrichtung

Medizinische Fakultät OWL > AG 301 Gynäkologie und Geburtshilfe, Schwerpunkt Gynäkologische Onkologie

Abstract / Bemerkung

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 & LE;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.

Stichworte

BRCA mutations; cancer risk factors; gynecological oncology; hereditary; cancer; ovarian cancer; SCCOHT; SMARCA4

Erscheinungsjahr

2023

Zeitschriftentitel

Cancer Medicine

eISSN

2045-7634

Page URI

https://pub.uni-bielefeld.de/record/2980959

Zitieren

Herold N, Schmolling J, Ernst C, et al. Pathogenic germline variants in SMARCA4 and further cancer predisposition genes in early onset ovarian cancer. Cancer Medicine . 2023.

Herold, N., Schmolling, J., Ernst, C., Ataseven, B., Blümcke, B., Schömig-Markiefka, B., Heikaus, S., et al. (2023). Pathogenic germline variants in SMARCA4 and further cancer predisposition genes in early onset ovarian cancer. Cancer Medicine . https://doi.org/10.1002/cam4.6214

Herold, Natalie, Schmolling, Johanna, Ernst, Corinna, Ataseven, Beyhan, Blümcke, Britta, Schömig-Markiefka, Birgid, Heikaus, Sebastian, et al. 2023. “Pathogenic germline variants in SMARCA4 and further cancer predisposition genes in early onset ovarian cancer”. Cancer Medicine .

Herold, N., Schmolling, J., Ernst, C., Ataseven, B., Blümcke, B., Schömig-Markiefka, B., Heikaus, S., Göhring, U. - J., Engel, C., Lampe, B., et al. (2023). Pathogenic germline variants in SMARCA4 and further cancer predisposition genes in early onset ovarian cancer. Cancer Medicine .

Herold, N., et al., 2023. Pathogenic germline variants in SMARCA4 and further cancer predisposition genes in early onset ovarian cancer. Cancer Medicine .

N. Herold, et al., “Pathogenic germline variants in SMARCA4 and further cancer predisposition genes in early onset ovarian cancer”, Cancer Medicine , 2023.

Herold, N., Schmolling, J., Ernst, C., Ataseven, B., Blümcke, B., Schömig-Markiefka, B., Heikaus, S., Göhring, U.-J., Engel, C., Lampe, B., Rhiem, K., Harter, P., Hauke, J., Schmutzler, R.K., Hahnen, E.: Pathogenic germline variants in SMARCA4 and further cancer predisposition genes in early onset ovarian cancer. Cancer Medicine . (2023).

Herold, Natalie, Schmolling, Johanna, Ernst, Corinna, Ataseven, Beyhan, Blümcke, Britta, Schömig-Markiefka, Birgid, Heikaus, Sebastian, Göhring, Uwe-Jochen, Engel, Christoph, Lampe, Bjoern, Rhiem, Kerstin, Harter, Philipp, Hauke, Jan, Schmutzler, Rita K., and Hahnen, Eric. “Pathogenic germline variants in SMARCA4 and further cancer predisposition genes in early onset ovarian cancer”. Cancer Medicine (2023).

Daten bereitgestellt von European Bioinformatics Institute (EBI)