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

Veronesi, Andrea; Giacomi, Clelia de; Magri, M. D.; Lombardi, Davide; Zanetti, Martina; Scuderi, Cristina; Dolcetti, Riccardo; Viel, Alessandra; Crivellari, Diana; Bidoli, Ettore; Boiocchi, Mauro

doi:10.1186/1471-2407-5-70

Cited by 82 publications

(62 citation statements)

References 13 publications

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“…This is consistent with findings from other populations, indicating that the frequency of BRCA1 mutations is higher in early-onset breast cancer (25)(26)(27). According to Veronesi et al (28), higher histological grade and lymph node invasion were significantly more frequent in patients with high genetic risk. Moreover, we also found that patients with higher risk mutation proved to be significantly associated with the presence of vascular peri- ONCOLOGY REPORTS 23: 1641-1645, 2010 Table II.…”

Section: Discussionsupporting

confidence: 81%

Histological features of extratumoral breast lesions as a predictive factor of familial breast cancer

Mangia¹,

Tommasi

Bruno

et al. 2010

Oncol Rep

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Abstract. The aim of this study was to verify whether histopathological features of extratumoral and of primary tumor breast tissue could play a role in identifying patients with familial characteristics. We examined the clinicopathological features of 504 patients with sporadic or familial breast cancer stratified for risk of BRCA mutation. Patients with a higher risk of being carrier of BRCA gene mutations were significantly associated with tumor poor differentiation (p=0.003), positive lymph node invasion (p=0.02) and presence of vascular peritumoral invasion (p=0.008). Among the extratumoral lesions, only the epithelial proliferative lesions were related to higher mutation risk both in the overall series and familial patients (p<0.0001 and p=0.003, respectively). Interestingly, a significant difference in terms of high mutation risk was observed in usual ductal hyperplasia lesions (UDH), (p=0.002). We suggest that vascular peritumoral invasion and UDH lesions could predict a higher mutation risk of BRCA1 and BRCA2 genes and help in individuating patient candidates to further molecular analysis.

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Section: Discussionsupporting

confidence: 81%

Histological features of extratumoral breast lesions as a predictive factor of familial breast cancer

Mangia¹,

Tommasi

Bruno

et al. 2010

Oncol Rep

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“…Finally, we selected 17 articles for this systematic review. Among these seventeen articles, some were excluded for the following reasons: number of events, censored or survival rate at 5 and 10 year could not be distinguished whether it is event or loss for five articles [6,[8][9][10][11]; one used a specific population who had been treated with breast-conserving surgery and radiotherapy [12]. Finally, 11 articles were included in the meta-analyses.…”

Section: Identification Of Studiesmentioning

confidence: 99%

Effect of BRCA1/2 mutation on short-term and long-term breast cancer survival: a systematic review and meta-analysis

Lee¹,

Park

et al. 2010

Breast Cancer Res Treat

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Reports of BRCA genetic mutations and risk of death or recurrence are inconsistent. This study aimed to compare overall and disease-free breast cancer survival rates between BRCA1/2 mutation carriers and non-carriers for short-term and long-term outcomes separately. We searched the PUBMED and EMBASE databases and retrieved 452 articles using keywords that included breast cancer, BRCA mutation, and survival. Seventeen articles were selected for systematic review and among them 11 were included in our meta-analysis. We used the random-effects model to calculate the summary hazard ratio and corresponding 95% confidence interval. BRCA1 mutation carriers had significantly lower short-term and long-term overall survival rates (OSR) relative to non-carriers (HR = 1.92 [95% CI = 1.45-2.53]; 1.33 [1.12-1.58], respectively), while both short-term and long-term OSR of BRCA2 carriers did not differ from non-carriers (HR = 1.30 [95% CI = 0.95-1.76]; 1.12 [95% CI = 0.86-1.45], respectively). For short-term progression-free survival rate (PFSR), BRCA1 mutation carriers had a significantly lower rate than non-carriers (HR = 1.54 [95% CI = 1.12-2.12]), while BRCA2 mutation carriers had a similar PFSR (HR = 1.23 [95% CI = 0.96-1.58]). For long-term PFSRs, we found no significant results. Our results suggest that BRCA1 mutation decreases short-term and long-term OSRs and short-term PFSR, however, BRCA2 mutation does not affect either short-term or long-term survival rate, which is attributed to the different carcinogenic pathways for BRCA1 and BRCA2.

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“…Studies with small sample size conducted in South India, Italy, and France during that time have been summarized in Table 2 [35][36][37].…”

Section: Introductionmentioning

confidence: 99%

Prognosis of BRCA-associated breast cancer: a summary of evidence

Bordeleau

Panchal

Goodwin

2009

Breast Cancer Res Treat

123

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The purpose of the study is to review the clinical studies relevant to the prognosis and prognostic associations of BRCA1- and BRCA2-associated breast cancers. Reports of relevant studies obtained from a MEDLINE search and references from these articles were critically reviewed. A number of methodologic limitations have been identified in the early studies. More recent studies have failed to demonstrate, for the most part, a significant overall survival difference between BRCA-associated breast cancers and sporadic breast cancers. The risk of in-breast tumor recurrence also appears to be similar in the first 5 years following a breast cancer diagnosis with apparent increase in the risk after 5 years in one study. Many in-breast tumor recurrences are now considered to be second primary breast cancers. There is a significant increase in the risk of contralateral breast cancers in BRCA mutation carriers with an estimated 10-year risk ranging from 20-40%. The prognosis of BRCA-associated breast cancers appears to be similar to that of sporadic breast cancers based on the current literature. Future data from large prospective cohort studies will be of interest.

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

Abstract: Background: The clinical and pathological characteristics and the clinical course of patients with breast cancer and BRCA 1-2 mutation are poorly known.

Cited by 82 publications

References 13 publications

Histological features of extratumoral breast lesions as a predictive factor of familial breast cancer

Histological features of extratumoral breast lesions as a predictive factor of familial breast cancer

Effect of BRCA1/2 mutation on short-term and long-term breast cancer survival: a systematic review and meta-analysis

Prognosis of BRCA-associated breast cancer: a summary of evidence

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