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Review
. 2025 Sep:139:102976.
doi: 10.1016/j.ctrv.2025.102976. Epub 2025 Jun 15.

PREDICTIVE BRCA GENETIC TESTING IN ITALIAN PATIENTS WITH BREAST CANCER: A POSITION PAPER OF ITALIAN SCIENTIFIC SOCIETIES [Italian Association of Medical Oncology(AIOM); Italian Association of Radiotherapy and Clinical Oncology (AIRO); Italian National Association of Breast Surgeons (ANISC); Italian Society of Pathological Anatomy and Diagnostic Cytology (SIAPeC-IAP); Italian Society of Surgical Oncology (SICO); Italian Society of Human Genetic (SIGU); Italian Society of General Practice (SIMG); Italian Society of Medical and Interventional Radiology (SIRM)]

L Cortesi  1 , F Miglietta  2 , L Arecco  3 , D Bernardi  4 , L Biganzoli  5 , L Del Mastro  6 , M V Dieci  2 , J Foglietta  7 , L Fortunato  8 , P Franco  9 , E Lucci Cordisco  10 , P Mantellini  11 , C Marchio'  12 , B Meduri  13 , G Micallo  14 , A Musolino  15 , A Salvetti  16 , D Turchetti  17 , A Zambelli  18 , C Angiolini  19 , S Cinieri  20 , P F Conte  21 , G Curigliano  22 , M Dessena  23 , A Fabi  24 , M C Leonardi  25 , I Meattini  26 , S Montemezzi  27 , F Puglisi  28 , A Sapino  12 , M Taffurelli  29 , M Cinquini  30 , S Gori  31
Affiliations
Free article
Review

PREDICTIVE BRCA GENETIC TESTING IN ITALIAN PATIENTS WITH BREAST CANCER: A POSITION PAPER OF ITALIAN SCIENTIFIC SOCIETIES [Italian Association of Medical Oncology(AIOM); Italian Association of Radiotherapy and Clinical Oncology (AIRO); Italian National Association of Breast Surgeons (ANISC); Italian Society of Pathological Anatomy and Diagnostic Cytology (SIAPeC-IAP); Italian Society of Surgical Oncology (SICO); Italian Society of Human Genetic (SIGU); Italian Society of General Practice (SIMG); Italian Society of Medical and Interventional Radiology (SIRM)]

L Cortesi et al. Cancer Treat Rev. 2025 Sep.
Free article

Abstract

The introduction of Poly (ADP-ribose) Polymerase (PARP) inhibitors in both metastatic and early-stage breast cancer (BC) treatment has led to the emergence of Mainstreaming Cancer Genetics (MCG) as a new approach to genetic counselling, predictive of therapy outcomes. Therefore, the BRCA testing criteria for therapeutic purposes require further implementation. This position paper outlines the Italian indications for predictive genetic testing, approved by a multidisciplinary Expert Panel representing major scientific societies involved in BC treatment in Italy. We utilized the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) approach, and framed clinical questions as population, intervention, comparison and outcome (PICO). The final recommendations were determined through a voting process, covering key topics such as eligibility criteria for onco-genetic counselling, the role of contralateral prophylactic mastectomy (CPM) in patients harboring BRCA1/2 germline pathogenic variants (gPV), and the positioning of predictive BRCA1/2 test. As results, the Expert Panel defined three distinct patient groups eligible for onco-genetic counselling, based on the a priori likelihood of carrying a gPV and the purpose of testing (predictive vs preventive). A conditional recommendation in favor of CPM in patients with a history of surgically treated BC and a BRCA gPV was suggested. Finally, a multidisciplinary pathway for BRCA testing was proposed, for patients with triple negative and hormone receptor-positive (HR+)/HER2-negative (HER2-) BC. In conclusion, the predictive BRCA testing inside the onco-genetic framework marks an important step-forward in BC management. However, the integration of somatic testing, digital pathology, and artificial intelligence-driven models could refine patient selection for tailored treatments.

Keywords: BRCA1/2; Germline pathogenic variants (gPV); Mainstreaming cancer genetics (MCG); PARP inhibitors (PARPi).

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Conflict of interest statement

Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Cortesi Laura reports a relationship with AstraZeneca Pharmaceuticals LP, Merck Sharp & Dohme Corp, Daiichi Sankyo Inc and Pfizer Inc that includes: board membership and consulting or advisory. Cortesi, Laura reports a relationship with Novartis, Gilead Sciences Inc, Roche Diagnostics Corporation that includes: speaking and lecture fees. Miglietta Federica, reports a relationship with Roche, Novartis, Pfizer/Seagen, MSD, Astrazeneca, Daiichi Sankyo, Menarini Stemline, Gilead that includes: speaking and lecture fees. Biganzoli Laura, reports a relationship with Amgen, AstraZeneca, Boehringer-Ingelheim, Daiichi-Sankyo, Eisai, Exact Sciences, Gilead, Lilly, Menarini, MSD, Novartis, Pfizer, Pierre Fabre, Roche, Sanofi, SeaGen that includes: board membership and consulting or advisory. Biganzoli Laura, reports a relationship with Celgene, Genomic Health, Novartis that includes: Institutional financial interests. Biganzoli Laura, reports a relationship with AstraZeneca, Daiichi-Sankyo, MSD that includes: Travel reimbursement. Del Mastro Lucia reports a relationship with Eli lilly; Novartis; Roche; Daiichi Sankyo; Seagen; Astrazeneca; Gilead; Pierre Fabre; Pfizer. Menarini Stemline; MSD that includes: board membership and consulting or advisory. Del Mastro Lucia reports a relationship with Roche, Novartis, Pfizer, Eli Lilly, Astrazeneca, MSD, Seagen, Gilead, Pierre Fabre, Eisai, Exact sciences, Ipsen, GSK, Agendia, Menarini Stemline that includes: speaking and lecture fees. Del Mastro Lucia reports a relationship with Roche, Daiichi Sankyo, Astrazeneca, Gilead, Menarini Stemline that includes: Travel reimbursement. Foglietta Jennifer reports relationship with Menarini Stem Line that includes: board membership and consulting or advisory. Foglietta Jennifer reports relationship with Novartis that includes: speaking and lecture fees. Foglietta Jennifer reports relationship with Roche, Sophos, Pfizer that includes: travel reimbursement. Marchio’ Caterina reports a relationship with Roche, Astrazeneca, Daiichi Sankyo, Menarini, Illumina that includes board membership and consulting or advisory. Musolino Antonino reports a relationship with Eli Lilly, Eisai Europe, Seagen, Daiichi-Sankyo, AstraZeneca, Novartis that includes board membership and consulting or advisory. Musolino Antonino reports a relationship with Eli Lilly and Roche that includes: funding or grants. Musolino Antonino reports a relationship with Pfizer that includes: travel reimbursement. Zambelli Alberto reports a relationship with Pfizer, Lilly, Novartis, Roche, AstraZeneca, DaiichiSankyo, Seagen, ExactSciences, MSD, Gentili that includes: board membership and consulting or advisory. Zambelli Alberto reports a relationship with Roche, DaiichiSankyo, AstraZeneca, Novartis that includes: travel reimbursement. Curigliano Giuseppe reports a relationship with advisory board from Roche, Novartis, Lilly, Pfizer, Astra Zeneca, Daichii Sankyo, Ellipsis, Veracyte, Exact Science, Celcuity, Merck, BMS, Gilead, Sanofi, Menarini that includes: board membership and consulting or advisory. Dessena Massimo reports a relationship with Novartis that includes: board membership and consulting or advisory board. Fabi Alessandra reports a relationship with Roche, Lilly, Novartis, AstraZeneca, Pfizer, Seagen, Gilead, MSD, Menarini Stemline, Dompè Biotech that includes: board membership and consulting or advisory. Fabi Alessandra reports a relationship with Astra Zeneca, Roche, Lilly, Novartis, Gilead, Pfizer, Daiichi Sankyo Exact Sciences that includes: speaking and lecture fees. Fabi Alessandra reports a relationship with Astra Zeneca, Roche that includes: funding or grants to the Fondazione Policlinico Agostino Gemelli. Fabi Alessandra reports a relationship with AIOM that includes: member of the national council. Meattini Icro reports a relationship with Menarini StemLine, Eli Lilly, AstraZeneca, Daiichi Sankyo, Novartis, Pfizer, Gilead, that includes: speaking and lecture fees. Other authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.