Georgios N Tsaousis1, Eirini Papadopoulou2, Konstantinos Agiannitopoulos2, Georgia Pepe2, Nikolaos Tsoulos2, Ioannis Boukovinas3, Theofanis Floros4, Rodoniki Iosifidou3, Ourania Katopodi5, Anna Koumarianou6, Christos Markopoulos7, Konstantinos Papazisis8, Vasileios Venizelos9, Achilleas Kapsimalis10, Grigorios Xepapadakis11, Amanda Psyrri12, Eugeniu Banu13, Dan Tudor Eniu14, Alexandru Blidaru15, Dana Lucia Stanculeanu16, Andrei Ungureanu17, Vahit Ozmen18, Sualp Tansan19, Mehmet Tekinel20, Suayib Yalcin21, George Nasioulas2. 1. Genekor Medical S.A., Athens, Greece; gtsaousis@genekor.com. 2. Genekor Medical S.A., Athens, Greece. 3. Bioclinic Thessaloniki, Thessaloniki, Greece. 4. Oncology Department, Athens Naval and Veterans Hospital, Athens, Greece. 5. Euroclinic Group, Athens, Greece. 6. Attikon University Hospital, National and Kapodistrian University of Athens, Medical School, Athens, Greece. 7. Medical School, National and Kapodistrian University of Athens, Athens, Greece. 8. Euromedica General Clinic of Thessaloniki, Thessaloniki, Greece. 9. Breast Unit, Metropolitan Hospital, Piraeus, Greece. 10. General Surgeon, Drama, Greece. 11. IASO, General Maternity and Gynecology Clinic, Athens, Greece. 12. Department of Internal Medicine, Section of Medical Oncology, National and Kapodistrian University of Athens, Attikon University Hospital, Athens, Greece. 13. Spitalul Sfantul Constantin Brasov, Brasov, Romania. 14. Department of Surgery II, Iuliu Hațieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania. 15. Department of Surgical Oncology, Oncological Institute "Al. Trestioneanu" of Bucharest, University of Medicine and Pharmacy Carol Davila, Bucharest, Romania. 16. Department of Oncology, Faculty of General Medicine, "Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania. 17. Amethyst Radiotherapy Cluj-Napoca, Cluj-Napoca, Romania. 18. Department of General Surgery, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey. 19. Tansan Oncology, Istanbul, Turkey. 20. Private Practice, Fulya Sisli, Turkey. 21. Department of Medical Oncology, Hacettepe University Cancer Institute, Ankara, Turkey.
Abstract
BACKGROUND/AIM: The use of multi-gene panels for germline testing in breast cancer enables the estimation of cancer risk and guides risk-reducing management options. The aim of this study was to present data that demonstrate the different levels of actionability for multi-gene panels used in genetic testing of breast cancer patients and their family members. MATERIALS AND METHODS: We performed an analysis in our clinical database to identify breast cancer patients undergoing genetic testing. We reviewed positive results in respect of risk estimation and management, cascade family testing, secondary findings and information for treatment decision-making. RESULTS: A total of 415 positive test reports were identified with 57.1%, 18.1%, 10.8% and 13.5% of individuals having pathogenic/likely pathogenic variants in high, moderate, low and with insufficient evidence for breast cancer risk genes, respectively. Six point seven percent of individuals were double heterozygotes. CONCLUSION: Germline findings in 92% of individuals are linked to evidence-based treatment information and risk estimates for predisposition to breast and/or other cancer types. The use of germline findings for treatment decision making expands the indication of genetic testing to include individuals that could benefit from targeted treatments.
BACKGROUND/AIM: The use of multi-gene panels for germline testing in breast cancer enables the estimation of cancer risk and guides risk-reducing management options. The aim of this study was to present data that demonstrate the different levels of actionability for multi-gene panels used in genetic testing of breast cancer patients and their family members. MATERIALS AND METHODS: We performed an analysis in our clinical database to identify breast cancer patients undergoing genetic testing. We reviewed positive results in respect of risk estimation and management, cascade family testing, secondary findings and information for treatment decision-making. RESULTS: A total of 415 positive test reports were identified with 57.1%, 18.1%, 10.8% and 13.5% of individuals having pathogenic/likely pathogenic variants in high, moderate, low and with insufficient evidence for breast cancer risk genes, respectively. Six point seven percent of individuals were double heterozygotes. CONCLUSION: Germline findings in 92% of individuals are linked to evidence-based treatment information and risk estimates for predisposition to breast and/or other cancer types. The use of germline findings for treatment decision making expands the indication of genetic testing to include individuals that could benefit from targeted treatments.
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