BRCA1/2 Molecular Assay for Ovarian Cancer Patients: A Survey through Italian Departments of Oncology and Molecular and Genomic Diagnostic Laboratories
Abstract
:1. Introduction
2. Materials and Methods
- Core organization of the BRCA1/2 testing process for ovarian cancer patients;
- Pipelines that were most frequently followed to request the test and which professionals are mainly involved;
- The testing approaches followed (somatic vs. germline testing) depending on the type of setting;
- The process of the referral to genetic counseling of both patients and healthy family members takes place;
- The volume of activity of the diagnostic laboratories and their procedures for the execution of the BRCA1/2 assay.
3. Results
3.1. Survey on Departments of Oncology
3.2. Genetic Units: Presence Inside the Hospitals and Their Organization
3.3. Germline and Somatic BRCA1/2 Testing
3.4. Genetic Counselling and Genetic Testing for Relatives of PV Carries
3.5. Survey on Diagnostic Laboratories
3.6. Duration of BRCA1/2 Testing Activities and Types of Germline Assays
3.7. Technologies and Kit Employed for Germline BRCA1/2 Test
3.8. Yearly Volume of Germline BRCA1/2 Testing
3.9. Somatic BRCA1/2 Testing on Tumor Specimens
3.10. Variant Classification and Interpretation
4. Discussion
Supplementary Materials
Author Contributions
Funding
Acknowledgments
Conflicts of Interest
References
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N Lab | % Lab | Pipelines |
---|---|---|
3 | 7.3% | NGS |
1 | 2.3% | NGS, MAQ |
4 | 9.8% | NGS, MLPA |
1 | 2.3% | NGS, ION TORRENT analysis of CNV |
3 | 7.3% | NGS, Sanger |
1 | 2.3% | NGS, Sanger, MAQ |
21 | 51.2% | NGS, Sanger, MLPA |
1 | 2.3% | NGS, Sanger, MLPA, NGS + MLPA * + DHPLC ** |
3 | 7.3% | Sanger, MLPA |
1 | 2.3% | Sanger, QMPSF (for re-arrangements) |
2 | 5.8% | no response |
Results | Test Performed in 2016 | Test Performed in Breast Cancer Patients | Test Performed in Ovarian Cancer Patients | Test Performed in Other Cancer (No Breast, No Ovarian) ° | Test Performed in Healthy Patients |
---|---|---|---|---|---|
Number of test | 12,559 | 6313 | 2648 | 172 | 1712 |
Mean (range) | 339 | 175 | 76 | 7 | 54 |
Median | 254 (17–1660) | 136 (8–643) | 35 (5–1000) | 2 (1–28) | 22 (4–500) |
Centers responding to the questionnaires (out of 41) | 37 | 36 | 35 | 26 | 32 |
Results | Number of Tests Performed in 2016 | Test in Ovarian Cancer Patients | Test in Breast Cancer Patients | Test in Other Cancers ° |
---|---|---|---|---|
Total | 699 | 573 | 76 | 50 |
Mean | 30 | 32 | 6 | 5 |
Median (range) | 19 (0–200) | 20 (5–180) | 0 (0–40) | 0 (0–25) |
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Capoluongo, E.; La Verde, N.; Barberis, M.; Bella, M.A.; Buttitta, F.; Carrera, P.; Colombo, N.; Cortesi, L.; Genuardi, M.; Gion, M.; et al. BRCA1/2 Molecular Assay for Ovarian Cancer Patients: A Survey through Italian Departments of Oncology and Molecular and Genomic Diagnostic Laboratories. Diagnostics 2019, 9, 146. https://doi.org/10.3390/diagnostics9040146
Capoluongo E, La Verde N, Barberis M, Bella MA, Buttitta F, Carrera P, Colombo N, Cortesi L, Genuardi M, Gion M, et al. BRCA1/2 Molecular Assay for Ovarian Cancer Patients: A Survey through Italian Departments of Oncology and Molecular and Genomic Diagnostic Laboratories. Diagnostics. 2019; 9(4):146. https://doi.org/10.3390/diagnostics9040146
Chicago/Turabian StyleCapoluongo, Ettore, Nicla La Verde, Massimo Barberis, Maria Angela Bella, Fiamma Buttitta, Paola Carrera, Nicoletta Colombo, Laura Cortesi, Maurizio Genuardi, Massimo Gion, and et al. 2019. "BRCA1/2 Molecular Assay for Ovarian Cancer Patients: A Survey through Italian Departments of Oncology and Molecular and Genomic Diagnostic Laboratories" Diagnostics 9, no. 4: 146. https://doi.org/10.3390/diagnostics9040146