Only 32.3% of Breast Cancer Families with Pathogenic Variants in Cancer Genes Utilized Cascade Genetic Testing

Author:

Agiannitopoulos Konstantinos1,Potska Kevisa1,Katseli Anastasia1,Ntogka Christina1,Tsaousis Georgios N.1ORCID,Pepe Georgia1,Bouzarelou Dimitra1,Tsoulos Nikolaos1ORCID,Papathanasiou Athanasios1ORCID,Ziogas Dimitrios2ORCID,Venizelos Vassileios3,Markopoulos Christos4,Iosifidou Rodoniki5,Karageorgopoulou Sofia6,Giassas Stylianos6,Natsiopoulos Ioannis7,Papazisis Konstantinos8,Vasilaki-Antonatou Maria9,Psyrri Amanta10,Koumarianou Anna10ORCID,Matthaios Dimitrios11,Zairi Eleni12,Blidaru Alexandru13,Banu Eugeniu14,Jinga Dan Corneliu15,Laçin Şahin16,Özdoğan Mustafa17,Papadopoulou Eirini1,Nasioulas George1

Affiliation:

1. Genekor Medical S.A., 15344 Athens, Greece

2. General Hospital of Athens “LAIKO”, 11527 Athens, Greece

3. Metropolitan Hospital, 18547 Athens, Greece

4. Athens Medical Center, 15125 Athens, Greece

5. Theagenio Anticancer Hospital, 54639 Thessaloniki, Greece

6. IASO, General Maternity and Gynecology Clinic, 15123 Athens, Greece

7. Interbalkan Medical Center of Thessaloniki, 55535 Thessaloniki, Greece

8. Euromedica General Clinic, 54636 Thessaloniki, Greece

9. Metropolitan General Hospital, 15562 Athens, Greece

10. Section of Medical Oncology, Attikon University Hospital, National and Kapodistrian University of Athens, 12462 Athens, Greece

11. General Hospital of Rhodes, 85133 Rhodes, Greece

12. St. Luke’s Hospital, 55236 Thessaloniki, Greece

13. Alexandru Trestioreanu Bucharest Oncology Institute, 022328 Bucharest, Romania

14. Saint Constantin Hospital, 500299 Brasov, Romania

15. Neolife Medical Center, 013812 Bucharest, Romania

16. Department of Medical Oncology, Koc University Faculty of Medicine, 34010 Istanbul, Turkey

17. Division of Medical Oncology, Memorial Antalya Hospital, 07025 Antalya, Turkey

Abstract

Background: Hereditary cancer predisposition syndromes are responsible for approximately 5–10% of all diagnosed cancer cases. In order to identify individuals at risk in a cost-efficient manner, family members of individuals carrying pathogenic alterations are tested only for the specific variant that was identified in their carrier relative. The purpose of this study was to investigate the clinical use and implementation of cascade family testing (CFT) in families of breast cancer patients with pathogenic/likely pathogenic variants (PVs/LPVs) in cancer-related predisposition genes. Methods: Germline sequencing was carried out with NGS technology using a 52-gene panel, and cascade testing was performed by Sanger sequencing or MLPA. Results: In a cohort of 1785 breast cancer patients (families), 20.3% were found to have PVs/LPVs. Specifically, 52.2%, 25.1%, and 22.7% of patients had positive findings in high-, intermediate-, and low-penetrance breast cancer susceptibility genes, respectively. Although CFT was recommended to all families, only 117 families (32.3%) agreed to proceed with genetic testing. Among the first-degree relatives who underwent CFT, 70.3% were female, and 108 of 121 (89.3%) were cancer free. Additionally, 42.7%, 36.7%, and 20.6% were offspring, siblings, and parents of the subject, respectively. Our data suggest that CFT was mostly undertaken (104/117, 88.8%) in families with positive findings in high-risk genes. Conclusions: Cascade family testing can be a powerful tool for primary cancer prevention by identifying at-risk family members. It is of utmost importance to implement genetic counseling approaches leading to increased awareness and communication of genetic testing results.

Publisher

MDPI AG

Subject

Cancer Research,Oncology

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