Clinical behavior and outcomes of breast cancer in young women with germline BRCA pathogenic variants
Abstract Young breast cancer (BC) patients carrying a germline BRCA pathogenic variant (mBRCA) have similar outcomes as non-carriers. However, the impact of the type of gene (BRCA1 vs. BRCA2) and hormone receptor status (positive [HR+] vs. negative [HR−]) on clinical behavior and outcomes of mBRCA B...
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Nature Portfolio
2021
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oai:doaj.org-article:5b9aa2e66d9e4375afd2cb11e2219b702021-12-02T12:09:49ZClinical behavior and outcomes of breast cancer in young women with germline BRCA pathogenic variants10.1038/s41523-021-00224-w2374-4677https://doaj.org/article/5b9aa2e66d9e4375afd2cb11e2219b702021-02-01T00:00:00Zhttps://doi.org/10.1038/s41523-021-00224-whttps://doaj.org/toc/2374-4677Abstract Young breast cancer (BC) patients carrying a germline BRCA pathogenic variant (mBRCA) have similar outcomes as non-carriers. However, the impact of the type of gene (BRCA1 vs. BRCA2) and hormone receptor status (positive [HR+] vs. negative [HR−]) on clinical behavior and outcomes of mBRCA BC remains largely unknown. This is an international, multicenter, hospital-based, retrospective cohort study that included mBRCA patients diagnosed, between January 2000 and December 2012, with stage I–III invasive early BC at age ≤40 years. From 30 centers worldwide, 1236 young mBRCA BC patients were included. Among 808 and 428 patients with mBRCA1 or mBRCA2, 191 (23.6%) and 356 (83.2%) had HR+tumors, respectively (P < 0.001). Median follow-up was 7.9 years. Second primary BC (P = 0.009) and non-BC malignancies (P = 0.02) were more frequent among mBRCA1 patients while distant recurrences were less frequent (P = 0.02). Irrespective of hormone receptor status, mBRCA1 patients had worse disease-free survival (DFS; adjusted HR = 0.76, 95% CI = 0.60–0.96), with no difference in distant recurrence-free interval (DRFI) and overall survival (OS). Patients with HR+ disease had more frequent distant recurrences (P < 0.001) and less frequent second primary malignancies (BC: P = 0.005; non-BC: P = 0.18). No differences in DFS and OS were observed according to hormone receptor status, with a tendency for worse DRFI (adjusted HR = 1.39, 95% CI = 0.94–2.05) in patients with HR+ BC. Type of mBRCA gene and hormone receptor status strongly impact BC clinical behavior and outcomes in mBRCA young patients. These results provide important information for patients’ counseling on treatment, prevention, and surveillance strategies.Matteo LambertiniMarcello CeppiAnne-Sophie HamyOlivier CaronPhilip D. PoorvuEstela CarrascoAlbert GrinshpunKevin PunieChristine Rousset-JablonskiAlberta FerrariShani Paluch-ShimonAngela TossClaire SenechalFabio PuglisiKatarzyna PogodaJose Alejandro Pérez-FidalgoLaura De MarchisRiccardo PonzoneLuca LivraghiMaria Del Pilar Estevez-DizCynthia Villarreal-GarzaMaria Vittoria DieciFlorian ClatotFrancois P. DuhouxRossella GraffeoLuis TeixeiraOctavi CórdobaAmir SonnenblickArlindo R. FerreiraAnn H. PartridgeAntonio Di MeglioClaire SauleFedro A. PeccatoriMarco BruzzoneMarie Daphne t’Kint de RoodenbekeLieveke AmeyeJudith BalmañaLucia Del MastroHatem A. AzimNature PortfolioarticleNeoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENnpj Breast Cancer, Vol 7, Iss 1, Pp 1-9 (2021) |
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DOAJ |
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DOAJ |
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EN |
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Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 |
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Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Matteo Lambertini Marcello Ceppi Anne-Sophie Hamy Olivier Caron Philip D. Poorvu Estela Carrasco Albert Grinshpun Kevin Punie Christine Rousset-Jablonski Alberta Ferrari Shani Paluch-Shimon Angela Toss Claire Senechal Fabio Puglisi Katarzyna Pogoda Jose Alejandro Pérez-Fidalgo Laura De Marchis Riccardo Ponzone Luca Livraghi Maria Del Pilar Estevez-Diz Cynthia Villarreal-Garza Maria Vittoria Dieci Florian Clatot Francois P. Duhoux Rossella Graffeo Luis Teixeira Octavi Córdoba Amir Sonnenblick Arlindo R. Ferreira Ann H. Partridge Antonio Di Meglio Claire Saule Fedro A. Peccatori Marco Bruzzone Marie Daphne t’Kint de Roodenbeke Lieveke Ameye Judith Balmaña Lucia Del Mastro Hatem A. Azim Clinical behavior and outcomes of breast cancer in young women with germline BRCA pathogenic variants |
| description |
Abstract Young breast cancer (BC) patients carrying a germline BRCA pathogenic variant (mBRCA) have similar outcomes as non-carriers. However, the impact of the type of gene (BRCA1 vs. BRCA2) and hormone receptor status (positive [HR+] vs. negative [HR−]) on clinical behavior and outcomes of mBRCA BC remains largely unknown. This is an international, multicenter, hospital-based, retrospective cohort study that included mBRCA patients diagnosed, between January 2000 and December 2012, with stage I–III invasive early BC at age ≤40 years. From 30 centers worldwide, 1236 young mBRCA BC patients were included. Among 808 and 428 patients with mBRCA1 or mBRCA2, 191 (23.6%) and 356 (83.2%) had HR+tumors, respectively (P < 0.001). Median follow-up was 7.9 years. Second primary BC (P = 0.009) and non-BC malignancies (P = 0.02) were more frequent among mBRCA1 patients while distant recurrences were less frequent (P = 0.02). Irrespective of hormone receptor status, mBRCA1 patients had worse disease-free survival (DFS; adjusted HR = 0.76, 95% CI = 0.60–0.96), with no difference in distant recurrence-free interval (DRFI) and overall survival (OS). Patients with HR+ disease had more frequent distant recurrences (P < 0.001) and less frequent second primary malignancies (BC: P = 0.005; non-BC: P = 0.18). No differences in DFS and OS were observed according to hormone receptor status, with a tendency for worse DRFI (adjusted HR = 1.39, 95% CI = 0.94–2.05) in patients with HR+ BC. Type of mBRCA gene and hormone receptor status strongly impact BC clinical behavior and outcomes in mBRCA young patients. These results provide important information for patients’ counseling on treatment, prevention, and surveillance strategies. |
| format |
article |
| author |
Matteo Lambertini Marcello Ceppi Anne-Sophie Hamy Olivier Caron Philip D. Poorvu Estela Carrasco Albert Grinshpun Kevin Punie Christine Rousset-Jablonski Alberta Ferrari Shani Paluch-Shimon Angela Toss Claire Senechal Fabio Puglisi Katarzyna Pogoda Jose Alejandro Pérez-Fidalgo Laura De Marchis Riccardo Ponzone Luca Livraghi Maria Del Pilar Estevez-Diz Cynthia Villarreal-Garza Maria Vittoria Dieci Florian Clatot Francois P. Duhoux Rossella Graffeo Luis Teixeira Octavi Córdoba Amir Sonnenblick Arlindo R. Ferreira Ann H. Partridge Antonio Di Meglio Claire Saule Fedro A. Peccatori Marco Bruzzone Marie Daphne t’Kint de Roodenbeke Lieveke Ameye Judith Balmaña Lucia Del Mastro Hatem A. Azim |
| author_facet |
Matteo Lambertini Marcello Ceppi Anne-Sophie Hamy Olivier Caron Philip D. Poorvu Estela Carrasco Albert Grinshpun Kevin Punie Christine Rousset-Jablonski Alberta Ferrari Shani Paluch-Shimon Angela Toss Claire Senechal Fabio Puglisi Katarzyna Pogoda Jose Alejandro Pérez-Fidalgo Laura De Marchis Riccardo Ponzone Luca Livraghi Maria Del Pilar Estevez-Diz Cynthia Villarreal-Garza Maria Vittoria Dieci Florian Clatot Francois P. Duhoux Rossella Graffeo Luis Teixeira Octavi Córdoba Amir Sonnenblick Arlindo R. Ferreira Ann H. Partridge Antonio Di Meglio Claire Saule Fedro A. Peccatori Marco Bruzzone Marie Daphne t’Kint de Roodenbeke Lieveke Ameye Judith Balmaña Lucia Del Mastro Hatem A. Azim |
| author_sort |
Matteo Lambertini |
| title |
Clinical behavior and outcomes of breast cancer in young women with germline BRCA pathogenic variants |
| title_short |
Clinical behavior and outcomes of breast cancer in young women with germline BRCA pathogenic variants |
| title_full |
Clinical behavior and outcomes of breast cancer in young women with germline BRCA pathogenic variants |
| title_fullStr |
Clinical behavior and outcomes of breast cancer in young women with germline BRCA pathogenic variants |
| title_full_unstemmed |
Clinical behavior and outcomes of breast cancer in young women with germline BRCA pathogenic variants |
| title_sort |
clinical behavior and outcomes of breast cancer in young women with germline brca pathogenic variants |
| publisher |
Nature Portfolio |
| publishDate |
2021 |
| url |
https://doaj.org/article/5b9aa2e66d9e4375afd2cb11e2219b70 |
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