Familial invasive breast cancers:: Worse outcome related to BRCA1 mutations

被引:144
作者
Stoppa-Lyonnet, D
Ansquer, Y
Dreyfus, H
Gautier, C
Gauthier-Villars, M
Bourstyn, E
Clough, KB
Magdelénat, H
Pouillart, P
Vincent-Salomon, A
Fourquet, A
Asselain, B
机构
[1] Inst Curie, Dept Oncol Genet, Serv Genet Oncol, F-75248 Paris, France
[2] Inst Curie, Dept Biostat, F-75248 Paris, France
[3] Inst Curie, Dept Radiotherapy, F-75248 Paris, France
[4] Inst Curie, Dept Surg, F-75248 Paris, France
[5] Inst Curie, Dept Pharmacol, F-75248 Paris, France
[6] Inst Curie, Dept Med Oncol, F-75248 Paris, France
[7] Inst Curie, Dept Pathol, F-75248 Paris, France
关键词
D O I
10.1200/JCO.2000.18.24.4053
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Purpose: Although all studies confirm that BRCA1 tumors are highly proliferative and poorly differentiated, their outcomes remain controversial. We propose to examine, through a cohort study, the pathologic characteristics, overall survival, local recurrence, and metastasis-free intervals of 40 patients with BRCA1 breast cancer. Patients and Methods: A cohort of 183 patients with invasive breast cancer, treated at the Institut Curie and presenting with a familial history of breast and/or ovarian cancer, were tested for BRCA1 germ-line mutation. Tumor characteristics and clinical events were extracted from our prospectively registered database. Results: Forty BRCA1 mutations were found among the 183 patients (22%). Median follow-up was 58 months. BRCA1 tumors were larger in size (P =.03), had a higher rate of grade 3 histoprognostic factors (P =,002), and had a higher frequency of negative estrogen (P =.003) and progesterone receptors (P =.002) compared with non-BRCA1 tumors. Overall survival was poorer for carriers than for noncarriers (5-year rate, 80% v 91%, P =.002), Because a long time interval between cancer diagnosis and genetic counseling artificially increases survival time due to unrecorded deaths, the analysis was limited to the 110 patients whose diagnosis-to-counseling interval war less than 36 months (19 BRCA1 patients and 91 non-BRCA1 patients), The differences between the BRCA1 and non-BRCA1 groups regarding overall survival and metastasis-free interval were dramatically increased (49% v 85% and 18% v 84%, respectively). Multivariate analysis showed that BRCA1 mutation was an independent prognostic factor. Conclusion: Our results strongly support that among patients with familial breast cancer, those who have a BRCA1 mutation have a worse outcome than those who do not. J Clin Oncol 18:4053-4059. (C) 2000 by American Society of Clinical Oncology.
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页码:4053 / 4059
页数:7
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