Your browser doesn't support javascript.
loading
Prognostic impact of germline BRCA1/2 pathogenic variants in breast cancer.
Corso, Giovanni; Girardi, Antonia; Calvello, Mariarosaria; Gandini, Sara; Gaeta, Aurora; Marabelli, Monica; Magnoni, Francesca; Veronesi, Paolo; Guerrieri-Gonzaga, Aliana; Bonanni, Bernardo.
Afiliação
  • Corso G; Division of Breast Surgery, IEO, European Institute of Oncology, IRCCS, Via Ripamonti, 435, 20141, Milan, Italy. giovanni.corso@ieo.it.
  • Girardi A; Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy. giovanni.corso@ieo.it.
  • Calvello M; European Cancer Prevention Organization (ECP), Milan, Italy. giovanni.corso@ieo.it.
  • Gandini S; Division of Breast Surgery, IEO, European Institute of Oncology, IRCCS, Via Ripamonti, 435, 20141, Milan, Italy.
  • Gaeta A; Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology, IRCCS, Milan, Italy. mariarosaria.calvello@ieo.it.
  • Marabelli M; Division of Experimental Oncology, IEO, European Institute of Oncology, IRCCS, Milan, Italy.
  • Magnoni F; Division of Experimental Oncology, IEO, European Institute of Oncology, IRCCS, Milan, Italy.
  • Veronesi P; Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology, IRCCS, Milan, Italy.
  • Guerrieri-Gonzaga A; Division of Breast Surgery, IEO, European Institute of Oncology, IRCCS, Via Ripamonti, 435, 20141, Milan, Italy.
  • Bonanni B; Division of Breast Surgery, IEO, European Institute of Oncology, IRCCS, Via Ripamonti, 435, 20141, Milan, Italy.
Breast Cancer Res Treat ; 197(1): 103-112, 2023 Jan.
Article em En | MEDLINE | ID: mdl-36331686
PURPOSE: This study investigates the impact of different subtypes of pathogenic BRCA variants on the prognosis and on the survival of breast cancer (BC) patients. METHODS: Associations between BRCA1/2 pathogenic variants (PVs) mutations, clinicopathological features, locoregional tumor reappearance, and survival data were analyzed. The Gray's test was used to test difference of the cumulative incidence of local relapse between missense/splicing and other mutations, taking into of competing events. The multivariate proportional hazard model was used to assess the independent association between type of mutation and local relapse, after adjustment for other prognostic factors and clinicopathological characteristics. RESULTS: Out of 482 patients, 285 presented 98 different BRCA1 PVs and 201 harbored 103 different BRCA2 PVs. Missense mutations were found in 46 BC patients (9.5%), splicing mutations in 42 (8.6%), deletions in 206 (42.4%), insertions in 73 (15%), indel mutations in 6 (1.2%), nonsense mutations in 86 (17.7%), and large rearrangements in 27 (5.6%). Kalbfleisch and Prentice cumulative incidence curves analysis showed a significantly lower locoregional recurrence incidence in the missense/splicing group (Gray-test P-value = 0.011). We found that the risk of local relapse was 58% less likely in women carrying missense/splicing variants than in those with other PV subtypes (HR 95% CI 0.42 [0.21-0.82]; P-value = 0.0108). No significant differences were observed in overall survival (OS) in all groups. CONCLUSIONS: Having been found to be associated with a lower risk of BC reappearance, germline BRCA1/2 PVs of the missense/splicing subtypes can be used as prognostic predictors and are likely to improve BC patients' management.
Assuntos
Palavras-chave

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias da Mama Tipo de estudo: Prognostic_studies Limite: Female / Humans Idioma: En Revista: Breast Cancer Res Treat Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias da Mama Tipo de estudo: Prognostic_studies Limite: Female / Humans Idioma: En Revista: Breast Cancer Res Treat Ano de publicação: 2023 Tipo de documento: Article