Familial breast cancer: characteristics and outcome of BRCA 1-2 positive and negative cases

Veronesi, Andrea, de Giacomi, Clelia, Magri, Maria D., Lombardi, Davide, Zanetti, Martina, Scuderi, Cristina, Dolcetti, Riccardo, Viel, Alessandra, Crivellari, Diana, Bidoli, Ettore and Boiocchi, Mauro (2005) Familial breast cancer: characteristics and outcome of BRCA 1-2 positive and negative cases. BMC Cancer, 5 . doi:10.1186/1471-2407-5-70

Author Veronesi, Andrea
de Giacomi, Clelia
Magri, Maria D.
Lombardi, Davide
Zanetti, Martina
Scuderi, Cristina
Dolcetti, Riccardo
Viel, Alessandra
Crivellari, Diana
Bidoli, Ettore
Boiocchi, Mauro
Title Familial breast cancer: characteristics and outcome of BRCA 1-2 positive and negative cases
Journal name BMC Cancer   Check publisher's open access policy
ISSN 1471-2407
Publication date 2005-07-04
Year available 2005
Sub-type Article (original research)
DOI 10.1186/1471-2407-5-70
Open Access Status DOI
Volume 5
Total pages 6
Place of publication London, United Kingdom
Publisher BioMed Central
Language eng
Formatted abstract
Background: The clinical and pathological characteristics and the clinical course of patients with breast cancer and BRCA 1-2 mutation are poorly known.

Methods: From 1997, patients with breast cancer and a family history of breast or ovarian cancer were offered BRCA testing. The clinical and pathological features of patients with known BRCA status were retrospectively assessed and comparisons were made between cancers arising in BRCA positive and BRCA wild type (WT) patients respectively. Type of treatment, pattern of relapse, event (local relapse, contralateral breast cancer, metastases) free and overall survival were also compared in the two groups. Out of the 210 patients tested, 125 had been treated and followed-up at our Institution and were evaluated in this study.

Results: BRCA positive patients tended to be more often premenopausal (79% vs 65%) and to have positive lymphnodes (63% vs 49%), poorly differentiated tumours (76% vs 40% - p = 0.002 at univariate analysis, not significant at multivariate analysis) and negative estrogen receptors (43% vs 29%). Treatment was not different in the two groups. In the 86 BRCA-WT patients, the first event was a local relapse in 3 (3%), metachronous contralateral breast cancer in 7 (8%) and distant metastases in 16 (19%). In the 39 BRCA positive patients, the corresponding figures were 3 (8%), 8 (21%) and 3 (8%). There was no difference in event free survival, with a median of 180 months in both groups of patients. At 20 years, projected survival was 85% for BRCA positive patients and 55% for BRCA-WT, but this difference was not statistically significant.

Conclusion: Although BRCA positive patients have more frequently negative prognostic factors, their prognosis appears to be equal to or better than in patients with BRCA-WT.
Keyword Oncology
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: UQ Diamantina Institute Publications
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