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Endometrial cancer
2022-RA-1304-ESGO Molecular testing of endometrial carcinoma brings growing opportunity to identify patients with inherited risk of cancer
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  1. Marketa Bednarikova1,
  2. Jitka Hausnerova2,
  3. Lubos Minar3,
  4. Jakub Trizuljak4,
  5. Ivona Blahakova5,
  6. Lucie Ehrlichova1,
  7. Petra Vinklerova3,
  8. Michal Felsinger3,
  9. Kvetoslava Matulova2,
  10. Petra Ovesna6 and
  11. Vit Weinberger3
  1. 1Department of Internal Medicine, Hematology and Oncology, University Hospital and Faculty of Medicine, Masaryk University, Brno, Czech Republic
  2. 2Department of Pathology, University Hospital and Faculty of Medicine, Masaryk University, Brno, Czech Republic
  3. 3Department of Obstetrics and Gynecology, University Hospital and Faculty of Medicine, Masaryk University, Brno, Czech Republic
  4. 4Institute of Medical Genetics and Genomics, University Hospital and Faculty of Medicine, Masaryk University, Brno, Czech Republic
  5. 5Central European Institute of Technology, Masaryk University, Brno, Czech Republic
  6. 6Faculty of Medicine, Institute of Biostatistics and Analyses, Masaryk University, Brno, Czech Republic

Abstract

Introduction/Background Routine examination of mismatch repair (MMR) status as a part of recently introduced molecular testing in patients with newly diagnosed endometrial carcinoma (EC) enables to identify those with MMR-d (deficient) tumors, the feature known to be associated with Lynch syndrome (LS). We aimed to evaluate the outcomes of genetic testing recommended to EC patients based on results of both tumor molecular testing and clinical examination.

Methodology According to the local guidelines, all newly diagnosed EC are tested for MMR-status from January 2021 in University Hospital Brno. Those EC patients with MMR-d tumors or high-risk family or personal history of cancer are referred to genetic counseling. All consecutive primary EC patients diagnosed between January 2021 and April 2022 with known MMR status were identified from the clinical database and checked for results of genetic consulting.

Results So far, a total of 109 patients have been involved with median age 64.5 years (30–85), of which 80 (73.4%) with MMR-proficient and 29 (26.6%) MMR-d tumors. Genetic counselling was recommended to 33 (30.2%) patients and performed in 27 (81.8%) patients. At the time of analysis, the results were available in 21 (78%) cases with following outcomes: 2 (9.5%) patients with pathogenic mutations in genes associated with LS, 1 (4.8%) patient with mutation in other gene associated with increased risk of cancer, 1 (4.8%) patient with mutation in gene not related to cancer, 5 (23.8%) patients with variant of unknown significance (VUS) in genes associated with LS, 2 (9.5%) patients with VUS in other genes and 10 (47.6%) patients with negative findings.

Conclusion The genetic testing recommended to all newly diagnosed EC patients with MMR-d tumors and/or high-risk family or personal history of cancer resulted in identification of 14.3% patients with hereditary form of cancer in this pilot study.

https://doi.org/10.1136/ijgc-2022-ESGO.303

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