Características clinicopatológicas y evolución clínica de pacientes con cáncer de mama y mutaciones en los genes BRCA1 o BRCA2
| Autor: | Montserrat Domènech, Josep Maria Sabaté, Enrique Lerma, Montserrat Baiget, Manel Baena, Antonio Castillo Gómez, Carles Pericay, Carmen Alonso, JJ López, Judith Balmañ, Berta Campos, Orland Diez |
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| Rok vydání: | 2001 |
| Předmět: |
Gynecology
medicine.medical_specialty endocrine system diseases medicine.diagnostic_test Medullary cavity business.industry Age at diagnosis General Medicine medicine.disease female genital diseases and pregnancy complications Breast cancer Nodal status medicine Mammography Stage (cooking) skin and connective tissue diseases Ovarian cancer business Pathological |
| Zdroj: | Medicina Clínica. 117:161-166 |
| ISSN: | 0025-7753 |
| Popis: | BACKGROUND: Clinico-pathological differences between BRCA1 or BRCA2 mutation-associated breast cancer (BC) and sporadic BC are little known. PATIENT AND METHODS: We analysed the clinico-pathological characteristics and clinical follow-up of 30 patients with BC. BRCA1 and BRCA2 mutations were detected by SSCP and PTT. RESULTS: There were no differences in age, size or nodal status at the time of diagnosis. Mammography features were more heterogeneous in BRCA2 than in BRCA1 BC. All BRCA1 mutation-associated BC corresponded to infiltrating ductal carcinomas (20% medullary carcinomas) with a more aggressive pathological behavior. The frequency of local recurrences was 14% in BRCA1 and 20% in BRCA2. Contralateral BC and ovarian cancer (OC) were observed in 27% and 20% of BRCA1 cases, respectively, and 6% and 6% of BRCA2 cases. The median follow-up in BRCA1 and BRCA2 BC was 131 and 54 months, respectively. CONCLUSIONS: There were no differences in age at diagnosis and stage between BRCA1 and BRCA2 breast cancer. The mammographic pattern in BRCA2 was more heterogeneous. BRCA1 mutations were associated with more aggressive histopathologic findings and a higher risk of a second BC and OC. |
| Databáze: | OpenAIRE |
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