Abstract
Germline BRCA1 and BRCA2 mutations confer an increased lifetime risk for breast cancer and ovarian cancer. Several studies have investigated prognosis among BRCA1/2 mutation carriers and noncarriers, but the prognostic impact on outcomes of breast cancer patients has not been determined. The aim of this study was to determine the prognosis of TNBC patients with and without BRCA1/2 germline mutation. Among 502 patients diagnosed with TNBC between 2005 and 2008, 124 patients with a strong family history of breast cancer or ovarian cancer as well as TNBC patients diagnosed under 45 years were referred to the Genetic Counseling Unit for genetic counselling and genetic tests. In 30 (24%) of them, the BRCA1/2 mutation was detected (the most common 5382insC in 18 (60%) patients). The median follow-up of the entire group was 60 months. BRCA1/2 mutation carriers were statistically significantly younger at TNBC diagnosis compared with nonmutation patients (41 vs 47 years, respectively). Patients with the BRCA1/2 mutation had smaller tumors (stage I: 47% vs 24.5% in noncarriers), but there was no significant difference in the regional nodal status (58.5–63% with cN0). Contralateral breast cancer developed in 26.5% of BRCA1/2 mutation carriers and in 14% of noncarriers. Other primary cancers were also slightly more common in BRCA1/2 mutation carriers (16.5% vs 9.5%). The performed analysis did not show any significant differences between the groups in recurrence-free survival (p=0.312). There was no significant difference between patients with or without BRCA1/2 mutation as regards overall survival (p=0.649) and the risk of TNBC death (p=0.333). The survival from detection of metastases was similar in two groups (p=0.865). Our study demonstrated that the BRCA1 mutation does not affect TNBC patients' outcomes.
Highlights
BRCA1 and BRCA2 are tumor suppressor genes involved in DNA damage repair, cell cycle control, gene transcription regulation, and apoptosis
Among 502 patients diagnosed with triplenegative breast cancer (TNBC) between 2005 and 2008, 124 patients with a strong family history of breast cancer or ovarian cancer as well as TNBC patients diagnosed under 45 years were referred to the Genetic
There was no significant difference between patients with or without BRCA1/2 mutation as regards overall survival (p 0.649) and the risk of TNBC death (p 0.333)
Summary
BRCA1 and BRCA2 are tumor suppressor genes involved in DNA damage repair, cell cycle control, gene transcription regulation, and apoptosis. The common germline mutations of the BRCA1 gene are 5382insC, 185delAG, 3819del, and. About 5% of the breast cancer patients may carry heritable cancer susceptibility gene mutations, with BRCA1 being the most common mutation [2]. The mutation rate can be higher in Ashkenazi Jews [3, 4]. BRCA1/2 mutation rates in Asians are lower than those in whites [5]. Germline BRCA1 and BRCA2 mutations confer an increased lifetime risk for breast cancer and ovarian cancer. Women with BRCA1/2 germline mutations have a higher incidence of breast cancer than those without these genetic abnormalities. The ovarian cancer risk is 59–65% for the BRCA1 mutation and
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