Abstract
Breast cancer is increasing around the globe, including Asia. We aimed to examine the survival and risk of contralateral breast cancer (CBC) in Asian breast cancer patients with BRCA mutations. A total of 128 breast cancer patients with germline BRCA mutations and 4,754 control breast cancer patients were enrolled. Data on clinical-pathologic characteristics, survival, and CBC were collected from the medical record. The rates of survival and CBC were estimated by Kaplan-Meier method. The mean age of onset in BRCA mutation carriers was significantly younger than control patients (BRCA vs. Non-BRCA: 43.9 vs. 53.2years old). BRCA mutation carriers had a higher proportion of triple-negative breast cancer (TNBC) (52%) than control patients (12%, p < 0.001). The risk of CBC was significantly higher in BRCA mutation patients than in control cases (hazard ratio (HR) = 3.95, 95% CI 2.71-5.75); when stratified by genotype, the HRs (95%CI) were 4.84 (3.00-7.82) for BRCA1 and 3.13 (1.78-5.49) for BRCA2 carriers, respectively. Moreover, BRCA1 mutation patients with triple-negative breast cancer (TNBC) as their first breast cancer had the highest risk of CBC (HR = 5.55, 95% CI 3.29-9.34). However, we did not observe any differences in relapse-free survival and overall survival between mutation carriers and control patients. Our study suggest that BRCA patients had a significantly higher risk of developing CBC, particularly for BRCA1 mutation carriers with TNBC as the first breast cancer.
Highlights
Breast cancer, the most common type of malignancy, is the leading cause of cancer-related death of women in Taiwan and worldwide [1]
BRCA mutation carriers had a higher proportion of triple-negative breast cancer (TNBC) (52%) than control patients (12%, p
The risk of contralateral breast cancer (CBC) was significantly higher in BRCA mutation patients than in control cases (hazard ratio (HR) = 3.95, 95% confidence interval (CI) 2.71-5.75); when stratified by genotype, the HRs (95%CI) were 4.84 (3.00-7.82) for BRCA1 and 3.13 (1.78-5.49) for BRCA2 carriers, respectively
Summary
The most common type of malignancy, is the leading cause of cancer-related death of women in Taiwan and worldwide [1]. Women with germline BRCA mutations have extremely high lifetime risks of developing breast and ovarian cancers [4,5,6,7]. Previous studies have shown that the cumulative incidence of breast cancer for BRCA1 and BRCA2-mutation carriers by 80 years old was about 72% [confidence interval (CI) 65% – 79%] and 69% (61% – 77%), respectively [7]. Reports from Asian BRCA studies revealed that BRCA1 and BRCA2 mutation carriers have a 49–54% and 35–48% chance of developing breast cancer, respectively [6, 7]. The prognostic impact of germline BRCA mutations in breast cancer patients is controversial. A prospective study revealed similar prognoses in patients with and without BRCA mutations [11]. Another large cohort and metaanalysis studies suggested that BRCA mutations were associated with worse overall survival [12, 13]
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