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Background  A rapid surge of female breast cancer has been observed in young women in several East Asian countries. The  BIM  deletion polymorphism, which confers cell resistance to apoptosis, was recently found exclusively in East Asian people with prevalence rate of 12%. We aimed to evaluate the possible role of this genetic alteration in carcinogenesis of breast cancer in East Asians.    Method  Female healthy volunteers (n = 307), patients in one consecutive stage I-III breast cancer cohort (n = 692) and one metastatic breast cancer cohort (n = 189) were evaluated.  BIM  wild-type and deletion alleles were separately genotyped in genomic DNAs.    Results  Both cancer cohorts consistently showed inverse associations between the  BIM  deletion polymorphism and patient age (≤35 y vs. 36-50 y vs. >50 y: 29% vs. 22% vs. 15%,  P  = 0.006 in the consecutive cohort, and 40% vs. 23% vs. 13%,  P  = 0.023 in the metastatic cohort). In healthy volunteers, the frequencies of the BIM deletion polymorphism were similar (13%-14%) in all age groups. Further analyses indicated that the  BIM  deletion polymorphism was not associated with specific clinicopathologic features, but it was associated with poor overall survival (adjusted hazard ratio 1.71) in the consecutive cohort.    Conclusions    BIM  deletion polymorphism may be involved in the tumorigenesis of the early-onset breast cancer among East Asians.

High Prevalence of the BIM Deletion Polymorphism in Young Female Breast Cancer in an East Asian Country