Pathogenic germline variants in <scp><i>SMARCA4</i></scp> and further cancer predisposition genes in early onset ovarian cancer-Reference-Cited by-同舟云学术

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

Published:2023-06-22 Issue:14 Volume:12 Page:15256-15260
ISSN:2045-7634
Container-title:Cancer Medicine
language:en
Short-container-title:Cancer Medicine

Author:

Herold Natalie¹^ORCID,Schmolling Johanna¹,Ernst Corinna¹^ORCID,Ataseven Beyhan²³,Blümcke Britta¹,Schömig‐Markiefka Birgid⁴,Heikaus Sebastian⁵,Göhring Uwe‐Jochen⁶,Engel Christoph⁷,Lampe Björn⁸,Rhiem Kerstin¹,Harter Philipp²,Hauke Jan¹^ORCID,Schmutzler Rita K.¹,Hahnen Eric¹^ORCID

Affiliation:

1. Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty University of Cologne and University Hospital Cologne Cologne Germany

2. Department of Gynecology & Gynecologic Oncology Kliniken Essen‐Mitte (KEM) Essen Germany

3. Medical School and University Medical Center East Westphalia‐Lippe, Klinikum Lippe, Academic Department of Gynecology, Gynecologic Oncology and Obstetrics Bielefeld University Detmold Germany

4. Institute of Pathology University Hospital Cologne Cologne Germany

5. Department of Pathology Kliniken Essen‐Mitte (KEM) Evang. Huyssens‐Stiftung/Knappschaft GmbH Essen Germany

6. Department of Gynecology and Obstetrics Johanniter Krankenhaus Bonn Germany

7. Institute for Medical Informatics, Statistics and Epidemiology University of Leipzig Leipzig Germany

8. Department of Gynecology and Obstetrics Diakonie Kaiserswerth Düsseldorf Germany

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.

Funder

Bundesministerium für Bildung und Forschung

Deutsche Forschungsgemeinschaft

Deutsche Krebshilfe

Publisher

Wiley

Subject

Cancer Research,Radiology, Nuclear Medicine and imaging,Oncology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/cam4.6214

Reference16 articles.

1. Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1)