BCL2 apoptosis regulator (BCL2) is a cause of tumorigenesis whose CA-repeat promoter polymorphisms has inconsistent association with various types of cancers. The association of BCL2 polymorphism with breast cancer was investigated in the Isfahan province of Iran. PCRamplification of the CA-repeat was followed by polyacrylamide gel electrophoresis and direct sequencing for 120 breast cancer women and an equal number of corresponding healthy control individuals. Seven different alleles, ranging from 11 to 17 CA-repeats were observed. Short alleles with 11 to 14 repeats were protective (OR 0.363, P = 0.001), but large alleles with 15 to 17 repeats were threatening against breast cancer development (OR 2.780, P = 0.001). Accordingly, genotypes with large alleles showed a higher risk of breast cancer development (OR 3.400, P = 0.004). ERS1\ERBB2 positive breast cancer patients, but not PGRpositive ones, showed protection against breast cancer (OR 0.405, OR 0.346 respectively). In conclusion, women with at least one large allele of BCL2 were 3.4 times at higher risk of breast cancer development in the Isfahan province of Iran.

BCL2凋亡调节剂（BCL2）是肿瘤发生的原因，其CA重复启动子多态性与各种类型的癌症不一致。在伊朗伊斯法罕省调查了BCL2多态性与乳腺癌的关系。对CA重复序列进行PCR扩增，然后进行聚丙烯酰胺凝胶电泳，并对120名乳腺癌妇女和相当数量的相应健康对照个体进行直接测序。观察到七个不同的等位基因，范围从11至17个CA重复。具有11至14个重复的短等位基因具有保护性（OR 0.363，P  = 0.001），但具有15至17个重复的大等位基因则威胁乳腺癌的发展（OR 2.780，P = 0.001）。因此，具有大等位基因的基因型显示出罹患乳腺癌的较高风险（OR 3.400，P  = 0.004）。ERS1 \ ERBB2阳性的乳腺癌患者（而非PGR阳性的患者）显示出对乳腺癌的防护（分别为OR 0.405，OR 0.346）。总之，在伊朗伊斯法罕省，至少具有一个大等位基因BCL2的女性患乳腺癌的风险高3.4倍。