1. Recommendations for the implementation of BRCA1/2 testing in ovarian cancer patients: From tumor to germline analysis. Joint document from SIBioC, AIOM, SIGU, SIAPEC-IAP
- Author
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Barberis M., Bella M. A., Buttitta F., Capoluongo E., Carrera P., Colombo N., Cortesi L., Genuardi M., Gion M., Gori S., Guarneri V., Verde N. L., Lorusso D., Marchetti A., Marchetti P., Normanno N., Pasini B., Pensabene M., Pignata S., Radice P., Ricevuto E., Russo A., Sapino A., Tagliaferri P., Tassone P., Trevisiol C., Truini M., Varesco L., Barberis, M, Bella, M, Buttitta, F, Capoluongo, E, Carrera, P, Colombo, N, Cortesi, L, Genuardi, M, Gion, M, Gori, S, Guarneri, V, Verde, N, Lorusso, D, Marchetti, A, Marchetti, P, Normanno, N, Pasini, B, Pensabene, M, Pignata, S, Radice, P, Ricevuto, E, Russo, A, Sapino, A, Tagliaferri, P, Tassone, P, Trevisiol, C, Truini, M, and Varesco, L
- Subjects
BRCA2 protein ,BRCA1 protein - Abstract
Since the approval of the first poly adenosine diphosphate (ADP) ribose polymerase inhibitor (PARPi), olaparib for platinum-sensitive relapsed high grade ovarian cancer, with either germline or somatic BRCA1/2 deleterious variants, the strategies for BRCA1/2 testing are dynamically changing. In fact, along with germline assay, patients are now tested for tumor BRCA1/2 also above all for treatment decisions. In fact, it is reported as by tumor BRCA analysis we can identify 3–9% more mutated women which can therefore benefit from PARPi therapy. Although this new type of approach looks like challenging, in particular due to the technical and analytical difficulties regarding low quality DNA deriving from formalin-fixed paraffin-embedded specimens, the new CE-IVD on NGS-based pipelines, can overcome these issues, allowing specialized molecular laboratories to ensure high quality results and perform the best test settings. Nevertheless, each new NGS pipeline (CE-IVD or in house) should be validated using peculiar samples along with commercially available reference and certified materials, before being introduced in routine settings. The validation set should be appropriately chosen in order to provide unequivocal data regarding robustness of each NGS tBRCA pipeline. Therefore, in order to harmonize the patient and laboratory path, a group of Italian Scientific Societies [Italian Society of Clinical Chemistry (SIBioC), Italian Association of Medical Oncology (AIOM), Italian Association of Clinical Pathology (SIAPEC), Italian Society of Human Genetics (SIGU)] provided the present recommendations which are aimed to guide all professionals (oncologists, gynaecologists, clinical and laboratory geneticists, clinical molecular biologists and pathologists). The intersociety group is confident that the present paper can offer all ovarian cancer women a well-organized pathway of diagnosis and treatment.
- Published
- 2019