Frequency and clinical characteristics of breast cancer patients with high-risk features and no BRCA1/2 mutations in a Salentinian cohort

Background

The early onset of breast cancer (age 

Methods

Between 2014-2016 breast cancer patients and unaffected women with a familial history accessed to Hereditary and Familial Tumours Services at «Vito Fazzi» Hospital in Lecce and data were collected. Informed consents for genetic testing and research was obtained from all probands.

Results

We analyzed a group of 29 breast cancer patients with high-risk features. In particular, 18 were EOBC and 11 were TNBC (4 of which both EOBC/TNBC). Of these 29 probands, 17 were BRCA WT and 12 were BRCA mutation carriers (10 BRCA1 and 2 BRCA2 mutations carriers). In this cohort of patients, we found no statistically significant differences between BRCA WT and BRCA carriers in terms of personal and clinical characteristics, including mean age at diagnosis, breast feeding, oral contraceptive use, parity; or in terms of pathological characteristics, including histological type, tumor size, grade, node involvement, HER2/NEU status. However, BRCA carriers more frequently presented a negative Estrogen receptor status.

Conclusions

To our knowledge, there are currently no studies that have described the clinical characteristics of breast cancer patients with high-risk features and no BRCA1/2 mutations in a Salentinian cohort. Furthermore, a considerable quota of these probands result BRCA1/2 WT. The long-term aim of the present analysis is to estimate, in a monoinstitutional cohort of patients, the frequency of BRCA WT breast patients with high-risk features eligible for further cancer susceptibility gene testing, and to describe their characteristics, in terms of clinical features, tumour subtypes, family risk profile and non-genetic/environmental risk factors.

Clinical trial identification

Legal entity responsible for the study

ASL Lecce

Funding

ASL Lecce

Disclosure

All authors have declared no conflicts of interest.