Abstract
ObjectiveTo investigate the clinicopathological characteristics and prognostic factors of early-stage breast cancer patients with indications for breast cancer susceptibility genes 1/2 (BRCA1/2) genetic testing in China. MethodsBased on the indication criteria for BRCA genetic testing specified in the National Comprehensive Cancer Network (NCCN) clinical practice guidelines in oncology, genetic/familial high-risk assessment: Breast and ovarian (Version 2. 2019), a retrospective analysis was performed on patients with early-stage invasive breast cancer treated at Breast Disease Center, Peking University First Hospital between January 2008 and December 2016. Clinicopathological characteristics of all patients were analyzed, and prognoses were calculated using the Kaplan-Meier method and a Cox proportionate hazards model. ResultsA total of 906 early-stage breast cancer patients who had indications for BRCA genetic testing and had complete clinicopathological data and follow-up information were included in the study group, accounting for 34.7% of all breast cancer patients treated in Breast Disease Center, Peking University First Hospital during the study period. Compared with breast cancer patients without indications for BRCA genetic testing, the overall survival (OS) and disease-free survival (DFS) of patients with indications were not significantly different. In the study group, patients with premenopausal status, high T stage, lymph node positive, estrogen receptor (ER) negative, Ki-67>20% and presence of a vascular tumor thrombus had worse prognosis. There were more family histories of gastrointestinal cancer in patients with related indications than in patients without such indications. ConclusionsSingle-center data showed that more than 30% of patients with early-stage breast cancer had indications for BRCA genetic testing. There was no prognostic difference in patients with or without indications for BRCA genetic testing. Premenopausal status, high T stage, lymph node positive, ER negative, Ki-67>20%, and presence of a vascular tumor thrombus were associated with poor prognosis.
Highlights
The breast cancer susceptibility (BRCA) genes comprise an important group of tumor suppressor genes [1,2]
The results showed that high T stage, positive axillary lymph node, negative estrogen receptor (ER) expression, Ki67>20% and the presence of a vascular tumor thrombus were significantly correlated with a decrease in disease-free survival (DFS); premenopausal, T stage 3−4, positive axillary lymph node, negative ER expression, Ki-67>20% and the presence of a vascular tumor thrombus were significantly associated with a reduction in overall survival (OS) (P
5%−10% of breast cancer is monogenic in origin, and breast cancer susceptibility genes 1/2 (BRCA1/2) is the main gene related to hereditary breast cancer [15]
Summary
The breast cancer susceptibility (BRCA) genes comprise an important group of tumor suppressor genes [1,2]. Germline BRCA mutations have been confirmed to be closely related to familial breast cancer and ovarian cancer [3,4]. Studies have shown that the cumulative risk of breast cancer before the age of 70 in women with BRCA1 and BRCA2 mutations is 57%−60% and 49%−55%, respectively [5]. The clinicopathological features and prognosis of patients with BRCA mutation-related breast cancer have received extensive attention in clinics. Xiang et al Clinicopathological analysis of BRCA1/2 gene testing indicated population of clinical detection, this study, referring to the indication criteria for BRCA genetic testing specified in the National Comprehensive Cancer Network (NCCN) clinical practice guidelines in oncology, genetic/familial high-risk assessment: Breast and ovarian This study focused on investigating the clinicopathological features and prognosis of patients with indications for BRCA genetic testing
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