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

Natalie Herold; Johanna 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

doi:10.1002/cam4.6214

Cancer Medicine (Jul 2023)

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

Natalie Herold,
Johanna 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

Affiliations

Natalie Herold: Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty University of Cologne and University Hospital Cologne Cologne Germany
Johanna Schmolling: Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty University of Cologne and University Hospital Cologne Cologne Germany
Corinna Ernst: Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty University of Cologne and University Hospital Cologne Cologne Germany
Beyhan Ataseven: Department of Gynecology & Gynecologic Oncology Kliniken Essen‐Mitte (KEM) Essen Germany
Britta Blümcke: Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty University of Cologne and University Hospital Cologne Cologne Germany
Birgid Schömig‐Markiefka: Institute of Pathology University Hospital Cologne Cologne Germany
Sebastian Heikaus: Department of Pathology Kliniken Essen‐Mitte (KEM) Evang. Huyssens‐Stiftung/Knappschaft GmbH Essen Germany
Uwe‐Jochen Göhring: Department of Gynecology and Obstetrics Johanniter Krankenhaus Bonn Germany
Christoph Engel: Institute for Medical Informatics, Statistics and Epidemiology University of Leipzig Leipzig Germany
Björn Lampe: Department of Gynecology and Obstetrics Diakonie Kaiserswerth Düsseldorf Germany
Kerstin Rhiem: Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty University of Cologne and University Hospital Cologne Cologne Germany
Philipp Harter: Department of Gynecology & Gynecologic Oncology Kliniken Essen‐Mitte (KEM) Essen Germany
Jan Hauke: Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty University of Cologne and University Hospital Cologne Cologne Germany
Rita K. Schmutzler: Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty University of Cologne and University Hospital Cologne Cologne Germany
Eric Hahnen: Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty University of Cologne and University Hospital Cologne Cologne Germany

DOI: https://doi.org/10.1002/cam4.6214
Journal volume & issue: Vol. 12, no. 14
pp. 15256 – 15260

Abstract

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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.

Published in Cancer Medicine

ISSN: 2045-7634 (Online)
Publisher: Wiley
Country of publisher: United Kingdom
LCC subjects: Medicine: Internal medicine: Neoplasms. Tumors. Oncology. Including cancer and carcinogens
Website: https://onlinelibrary.wiley.com/journal/20457634

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