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


CONCLUSIONS
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.
Division of Medical Oncology C, Centro di Riferimento Oncologico, Aviano, Italy. averonesi@cro.it
Andrea
A
Veronesi
Clelia
C
de Giacomi
Maria D
MD
Magri
Davide
D
Lombardi
Martina
M
Zanetti
Cristina
C
Scuderi
Riccardo
R
Dolcetti
Alessandra
A
Viel
Diana
D
Crivellari
Ettore
E
Bidoli
Mauro
M
Boiocchi
D001943:Breast Neoplasms / Q000235:genetics*; D002454:Cell Differentiation; D018572:Disease-Free Survival; D005192:Family Health; D005260:Female; D005500:Follow-Up Studies; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006801:Humans; D008198:Lymph Nodes / Q000473:pathology; D015999:Multivariate Analysis; D009154:Mutation; D009362:Neoplasm Metastasis; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics*; D017697:Premenopause; D011379:Prognosis; D016016:Proportional Hazards Models; D012008:Recurrence; D013997:Time Factors; D016896:Treatment Outcome