Pathogenic germline variants in SMARCA4 and further cancer predisposition genes in early onset ovarian cancer
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 (candida...
| Main Authors: | , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2023-07-01
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| Series: | Cancer Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/cam4.6214 |
| _version_ | 1827867236988092416 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Natalie Herold |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-12T15:15:13Z |
| format | Article |
| id | doaj.art-a4dab6cdb70a41468a57a4e15e0a1712 |
| institution | Directory Open Access Journal |
| issn | 2045-7634 |
| language | English |
| last_indexed | 2024-03-12T15:15:13Z |
| publishDate | 2023-07-01 |
| publisher | Wiley |
| record_format | Article |
| series | Cancer Medicine |
| spelling | doaj.art-a4dab6cdb70a41468a57a4e15e0a17122023-08-11T14:51:17ZengWileyCancer Medicine2045-76342023-07-011214152561526010.1002/cam4.6214Pathogenic germline variants in SMARCA4 and further cancer predisposition genes in early onset ovarian cancerNatalie Herold0Johanna Schmolling1Corinna Ernst2Beyhan Ataseven3Britta Blümcke4Birgid Schömig‐Markiefka5Sebastian Heikaus6Uwe‐Jochen Göhring7Christoph Engel8Björn Lampe9Kerstin Rhiem10Philipp Harter11Jan Hauke12Rita K. Schmutzler13Eric Hahnen14Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty University of Cologne and University Hospital Cologne Cologne GermanyCenter for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty University of Cologne and University Hospital Cologne Cologne GermanyCenter for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty University of Cologne and University Hospital Cologne Cologne GermanyDepartment of Gynecology & Gynecologic Oncology Kliniken Essen‐Mitte (KEM) Essen GermanyCenter for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty University of Cologne and University Hospital Cologne Cologne GermanyInstitute of Pathology University Hospital Cologne Cologne GermanyDepartment of Pathology Kliniken Essen‐Mitte (KEM) Evang. Huyssens‐Stiftung/Knappschaft GmbH Essen GermanyDepartment of Gynecology and Obstetrics Johanniter Krankenhaus Bonn GermanyInstitute for Medical Informatics, Statistics and Epidemiology University of Leipzig Leipzig GermanyDepartment of Gynecology and Obstetrics Diakonie Kaiserswerth Düsseldorf GermanyCenter for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty University of Cologne and University Hospital Cologne Cologne GermanyDepartment of Gynecology & Gynecologic Oncology Kliniken Essen‐Mitte (KEM) Essen GermanyCenter for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty University of Cologne and University Hospital Cologne Cologne GermanyCenter for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty University of Cologne and University Hospital Cologne Cologne GermanyCenter for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty University of Cologne and University Hospital Cologne Cologne GermanyTo 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.https://doi.org/10.1002/cam4.6214BRCA mutationscancer risk factorsgynecological oncologyhereditary cancerovarian cancerSCCOHT |
| spellingShingle | 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 Pathogenic germline variants in SMARCA4 and further cancer predisposition genes in early onset ovarian cancer Cancer Medicine BRCA mutations cancer risk factors gynecological oncology hereditary cancer ovarian cancer SCCOHT |
| title | Pathogenic germline variants in SMARCA4 and further cancer predisposition genes in early onset ovarian cancer |
| title_full | Pathogenic germline variants in SMARCA4 and further cancer predisposition genes in early onset ovarian cancer |
| title_fullStr | Pathogenic germline variants in SMARCA4 and further cancer predisposition genes in early onset ovarian cancer |
| title_full_unstemmed | Pathogenic germline variants in SMARCA4 and further cancer predisposition genes in early onset ovarian cancer |
| title_short | Pathogenic germline variants in SMARCA4 and further cancer predisposition genes in early onset ovarian cancer |
| title_sort | pathogenic germline variants in smarca4 and further cancer predisposition genes in early onset ovarian cancer |
| topic | BRCA mutations cancer risk factors gynecological oncology hereditary cancer ovarian cancer SCCOHT |
| url | https://doi.org/10.1002/cam4.6214 |
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