Abstract:
Objective To compare the clinicopathological characteristics between BRCA1 and BRCA2 mutation carriers among Chinese women with breast cancer.
Methods BRCA1/2 genetic testing was performed on 8,627 patients with primary breast cancer at Peking University Cancer Hospital & Institute from October 2003 to May 2015. Overall, 521 BRCA1/2 pathogenic germline mutations were identified in this cohort, including 203 BRCA1 mutation carriers and 318 BRCA2 mutation carriers. The clinicopathological characteristics of these 521 patients were analyzed retrospectively.
Results The prevalence of BRCA2 germline mutations (3.7%) was higher than that of BRCA1 germline mutations (2.4%) in this large, unselected cohort of Chinese patients with breast cancer. BRCA1 mutation carriers were significantly younger at time of breast cancer diagnosis than BRCA2 mutation carriers (median: 43.0 years vs.47.0 years, P<0.01).BRCA1 mutation carriers were more likely to have grade Ⅲ carcinomas than BRCA2 mutation carriers (36.2% vs.18.4%, P<0.01). Notably,BRCA1 mutation carriers exhibited a significantly higher proportion of triple negative breast cancer (ER-/PR-/HER2-) than BRCA2 mutation carriers (59.2% vs. 15.4%, P<0.01).BRCA2 mutation carriers were more likely to have axillary lymph node involvement than BRCA1 mutation carriers (41.8% vs.29.6%, P<0.01).
Conclusions The clinicopathological characteristics between BRCA1 and BRCA2 mutation carriers among Chinese women with breast cancer were not similar, indicating an underlying different biological mechanism. The results provided the evidence for further precised clinical management of the BRCA1 and BRCA2 mutated breast cancer.
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