Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers.

Autor: Turchiano A; Medical Genetics Unit, Department of Biomedical Sciences and Human Oncology, Policlinico Hospital, 'Aldo Moro' University of Bari, 70124 Bari, Italy., Loconte DC; Medical Genetics Unit, Department of Biomedical Sciences and Human Oncology, Policlinico Hospital, 'Aldo Moro' University of Bari, 70124 Bari, Italy., De Nola R; Unit of Obstetrics and Gynecology, Department of Biomedical Sciences and Human Oncology, Policlinico Hospital, 'Aldo Moro' University of Bari, 70124 Bari, Italy., Arezzo F; Unit of Obstetrics and Gynecology, Department of Biomedical Sciences and Human Oncology, Policlinico Hospital, 'Aldo Moro' University of Bari, 70124 Bari, Italy., Chiarello G; Unit of Obstetrics and Gynecology, Department of Biomedical Sciences and Human Oncology, Policlinico Hospital, 'Aldo Moro' University of Bari, 70124 Bari, Italy., Pantaleo A; Medical Genetics Unit, Department of Biomedical Sciences and Human Oncology, Policlinico Hospital, 'Aldo Moro' University of Bari, 70124 Bari, Italy., Iacoviello M; Medical Genetics Unit, Department of Biomedical Sciences and Human Oncology, Policlinico Hospital, 'Aldo Moro' University of Bari, 70124 Bari, Italy., Bagnulo R; Medical Genetics Unit, Department of Biomedical Sciences and Human Oncology, Policlinico Hospital, 'Aldo Moro' University of Bari, 70124 Bari, Italy., De Luisi A; Medical Genetics Unit, Department of Biomedical Sciences and Human Oncology, Policlinico Hospital, 'Aldo Moro' University of Bari, 70124 Bari, Italy., Perrelli S; Medical Genetics Unit, Department of Biomedical Sciences and Human Oncology, Policlinico Hospital, 'Aldo Moro' University of Bari, 70124 Bari, Italy., Martino S; Medical Genetics Unit, Department of Biomedical Sciences and Human Oncology, Policlinico Hospital, 'Aldo Moro' University of Bari, 70124 Bari, Italy., Ranieri C; Medical Genetics Unit, Department of Biomedical Sciences and Human Oncology, Policlinico Hospital, 'Aldo Moro' University of Bari, 70124 Bari, Italy., Garganese A; Medical Genetics Unit, Department of Biomedical Sciences and Human Oncology, Policlinico Hospital, 'Aldo Moro' University of Bari, 70124 Bari, Italy., Stella A; Medical Genetics Unit, Department of Biomedical Sciences and Human Oncology, Policlinico Hospital, 'Aldo Moro' University of Bari, 70124 Bari, Italy., Forleo C; Cardiology Unit, Department of Emergency and Organ Transplantation, Policlinico Hospital, 'Aldo Moro' University of Bari, 70124 Bari, Italy., Loizzi V; Unit of Obstetrics and Gynecology, Department of Interdisciplinary Medicine, Policlinico Hospital, 'Aldo Moro' University of Bari, 70124 Bari, Italy., Marinaccio M; Unit of Obstetrics and Gynecology, Department of Interdisciplinary Medicine, Policlinico Hospital, 'Aldo Moro' University of Bari, 70124 Bari, Italy., Cicinelli E; Unit of Obstetrics and Gynecology, Department of Biomedical Sciences and Human Oncology, Policlinico Hospital, 'Aldo Moro' University of Bari, 70124 Bari, Italy., Cormio G; Unit of Obstetrics and Gynecology, Department of Interdisciplinary Medicine, Policlinico Hospital, 'Aldo Moro' University of Bari, 70124 Bari, Italy., Resta N; Medical Genetics Unit, Department of Biomedical Sciences and Human Oncology, Policlinico Hospital, 'Aldo Moro' University of Bari, 70124 Bari, Italy.
Jazyk: angličtina
Zdroj: Cancers [Cancers (Basel)] 2022 Jan 12; Vol. 14 (2). Date of Electronic Publication: 2022 Jan 12.
DOI: 10.3390/cancers14020365
Abstrakt: Background: Pathogenic variants in homologous recombination repair (HRR) genes other than BRCA1/2 have been associated with a high risk of ovarian cancer (OC). In current clinical practice, genetic testing is generally limited to BRCA1/2 . Herein, we investigated the mutational status of both BRCA1/2 and 5 HRR genes in 69 unselected OC, evaluating the advantage of multigene panel testing in everyday clinical practice.
Methods: We analyzed 69 epithelial OC samples using an NGS custom multigene panel of the 5 HRR pathways genes, beyond the genetic screening routine of BRCA1/2 testing.
Results: Overall, 19 pathogenic variants (27.5%) were detected. The majority (21.7%) of patients displayed a deleterious mutation in BRCA1/2 , whereas 5.8% harbored a pathogenic variant in one of the HRR genes. Additionally, there were 14 (20.3%) uncertain significant variants (VUS). The assessment of germline mutational status showed that a small number of variants (five) were not detected in the corresponding blood sample. Notably, we detected one BRIP1 and four BRCA1/2 deleterious variants in the low-grade serous and endometrioid histology OC, respectively.
Conclusion: We demonstrate that using a multigene panel beyond BRCA1/2 improves the diagnostic yield in OC testing, and it could produce clinically relevant results.
Databáze: MEDLINE
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