| Title: |
Clinical Behavior of Breast Cancer in Young BRCA Carriers and Prediagnostic Awareness of Germline BRCA Status |
| Authors: |
Lambertini, Matteo; Blondeaux, Eva; Tomasello, Loredana M.; Agostinetto, Elisa; Hamy, Anne-Sophie; Kim, Hee Jeong; Franzoi, Maria Alice; Bernstein-Molho, Rinat; Hilbers, Florentine; Pogoda, Katarzyna; Wildiers, Hans; Bajpai, Jyoti; Ignatiadis, Michail; Moore, Halle C. F.; Partridge, Ann H.; Phillips, Kelly-Anne; Toss, Angela; Rousset-Jablonski, Christine; Criscitiello, Carmen; Renaud, Tiphaine; Ferrari, Alberta; Paluch-Shimon, Shani; Fruscio, Robert; Cui, Wanda; Wong, Stephanie M.; Vernieri, Claudio; Ruddy, Kathryn J.; Dieci, Maria Vittoria; Matikas, Alexios; Rozenblit, Mariya; Villarreal-Garza, Cynthia; De Marchis, Laura; Puglisi, Fabio; Rodriguez-Wallberg, Kenny A.; Duhoux, Francois P.; Livraghi, Luca; Bruzzone, Marco; Boni, Luca; Balmaña, Judith |
| Contributors: |
Lambertini, Matteo; Blondeaux, Eva; Tomasello, Loredana M.; Agostinetto, Elisa; Hamy, Anne-Sophie; Kim, Hee Jeong; Franzoi, Maria Alice; Bernstein-Molho, Rinat; Hilbers, Florentine; Pogoda, Katarzyna; Wildiers, Han; Bajpai, Jyoti; Ignatiadis, Michail; Moore, Halle C. F.; Partridge, Ann H.; Phillips, Kelly-Anne; Toss, Angela; Rousset-Jablonski, Christine; Criscitiello, Carmen; Renaud, Tiphaine; Ferrari, Alberta; Paluch-Shimon, Shani; Fruscio, Robert; Cui, Wanda; Wong, Stephanie M.; Vernieri, Claudio; Ruddy, Kathryn J.; Dieci, Maria Vittoria; Matikas, Alexio; Rozenblit, Mariya; Villarreal-Garza, Cynthia; De Marchis, Laura; Puglisi, Fabio; Rodriguez-Wallberg, Kenny A.; Duhoux, Francois P.; Livraghi, Luca; Bruzzone, Marco; Boni, Luca; Balmaña, Judith |
| Publisher Information: |
Lippincott Williams and Wilkins; TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA |
| Publication Year: |
2025 |
| Collection: |
Sapienza Università di Roma: CINECA IRIS |
| Subject Terms: |
brca; young; clinical; breast cancer |
| Description: |
PURPOSE To investigate the clinical behavior of breast cancer in young BRCA carriers according to the specific BRCA gene (BRCA1 v BRCA2) and the association of the timing of genetic testing (before v at diagnosis) with prognosis. METHODS This was an international, multicenter, hospital-based, retrospective cohort study that included 4,752 patients harboring germline pathogenic/likely pathogenic variants (PVs) in BRCA1 or BRCA2, who were diagnosed with stage I-III invasive breast cancer at 40 years or younger between January 2000 and December 2020 in 78 centers worldwide (ClinicalTrials.gov identifier: NCT03673306). RESULTS Compared with BRCA2 carriers (n 5 1,683), BRCA1 carriers (n 5 3,069) had more frequently hormone receptor–negative (74.4% v 15.5%) and high-grade (77.5% v 49.1%) tumors. Similar outcomes were observed in BRCA1 and BRCA2 carriers but with a different pattern and risk of disease-free survival events over time. Compared with patients tested for BRCA at diagnosis (ie, between 2 months before and up to 6 months after diagnosis; n 5 1,671), those tested before diagnosis (ie, any time up to 2 months before diagnosis; n 5 411) had smaller tumors (T1: 61.3% v 32.4%), less nodal involvement (N0: 65.9% v 50.8%), less frequently received chemotherapy (84.4% v 92.9%), and axillary dissection (37.5% v 47.4%). Patients tested before diagnosis had better overall survival (OS; unadjusted hazard ratio [HR], 0.61 [95% CI, 0.40 to 0.92]); however, this result lost statistical significance after adjustment for potential confounders including tumor stage (adjusted HR, 0.74 [95% CI, 0.47 to 1.15]). CONCLUSION This global study provides evidence on the different clinical behavior of breast cancer in young BRCA1 and BRCA2 carriers. Identifying a BRCA PV in healthy individuals was associated with earlier-stage breast cancer diagnosis and lower treatment burden, as well as better unadjusted OS. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
info:eu-repo/semantics/altIdentifier/pmid/39993249; info:eu-repo/semantics/altIdentifier/wos/WOS:001481967700007; volume:43; issue:14; firstpage:1706; lastpage:1719; numberofpages:14; journal:JOURNAL OF CLINICAL ONCOLOGY; https://hdl.handle.net/11573/1746589 |
| DOI: |
10.1200/jco-24-01334 |
| Availability: |
https://hdl.handle.net/11573/1746589; https://doi.org/10.1200/jco-24-01334 |
| Rights: |
info:eu-repo/semantics/openAccess ; license:Creative commons ; license uri:http://creativecommons.org/licenses/by/4.0/ |
| Accession Number: |
edsbas.B8ACFAC3 |
| Database: |
BASE |