Chong Eric Tzyy Jiann, Goh Lucky Poh Wah, See Edwin Un Hean, Chuah Jitt Aun, Chua Kek Heng, Lee Ping-Chin
Biotechnology Programme, Faculty of Science and Natural Resources, Universiti Malaysia Sabah, Jalan UMS, Kota Kinabalu, Sabah, Malaysia E-mail :
Asian Pac J Cancer Prev. 2016;17(2):647-53. doi: 10.7314/apjcp.2016.17.2.647.
Breast cancer is the most common type of cancer affecting Malaysian women. Recent statistics revealed that the cumulative probability of breast cancer and related deaths in Malaysia is higher than in most of the countries of Southeast Asia. Single nucleotide polymorphisms (SNPs) in CYP2E1 (rs6413432 and rs3813867), STK15 (rs2273535 and rs1047972) and XRCC1 (rs1799782 and rs25487) have been associated with breast cancer risk in a meta-analysis but any link in Southeast Asia, including Malaysia, remained to be determined. Hence, we investigated the relationship between these SNPs and breast cancer risk among Malaysian women in the present case-control study.
Genomic DNA was isolated from peripheral blood of 71 breast cancer patients and 260 healthy controls and subjected to polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis.
Our study showed that the c1/c2 genotype or subjects with at least one c2 allele in CYP2E1 rs3813867 SNP had significantly increased almost 1.8-fold higher breast cancer risk in Malaysian women overall. In addition, the variant Phe allele in STK15 rs2273535 SNP appeared to protect against breast cancer in Malaysian Chinese. No significance association was found between XRCC1 SNPs and breast cancer risk in the population.
This study provides additional knowledge on CYP2E1, STK15 and XRCC1 SNP impact of risk of breast cancer, particularly in the Malaysian population. From our findings, we also recommend Malaysian women to perform breast cancer screening before 50 years of age.
乳腺癌是影响马来西亚女性的最常见癌症类型。最近的统计数据显示，马来西亚乳腺癌及相关死亡的累积概率高于东南亚大多数国家。一项荟萃分析表明，细胞色素P450 2E1（CYP2E1，rs6413432和rs3813867）、丝氨酸/苏氨酸蛋白激酶15（STK15，rs2273535和rs1047972）以及X射线修复交叉互补蛋白1（XRCC1，rs1799782和rs25487）中的单核苷酸多态性（SNP）与乳腺癌风险相关，但在包括马来西亚在内的东南亚地区，它们之间的任何联系仍有待确定。因此，在本病例对照研究中，我们调查了这些SNP与马来西亚女性乳腺癌风险之间的关系。
从71例乳腺癌患者和260例健康对照的外周血中提取基因组DNA，并进行聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析。
我们的研究表明，在马来西亚女性中，CYP2E1 rs3813867 SNP的c1/c2基因型或至少有一个c2等位基因的受试者患乳腺癌的风险显著增加，几乎高出1.8倍。此外，STK15 rs2273535 SNP中的变异苯丙氨酸等位基因似乎对马来西亚华裔女性有预防乳腺癌的作用。在该人群中，未发现XRCC1 SNP与乳腺癌风险之间存在显著关联。
本研究提供了关于CYP2E1、STK15和XRCC1 SNP对乳腺癌风险影响的更多知识，特别是在马来西亚人群中。根据我们的研究结果，我们还建议马来西亚女性在50岁之前进行乳腺癌筛查。
