Breast cancer is predominant causes of mortality in women worldwide. Genetic polymorphisms have a significant role in breast cancer aetiology. TP53 and its inhibitor the murine double minute 2 (MDM2) genes encode proteins that have crucial functions in the DNA damage response. The allelic variations within these genes could influence the susceptibility to breast cancer. MDM2 promotor polymorphism rs937283A/G has a role in susceptibility to cancer and modifies the promoter activity. In the present case-control study, the association of MDM2 rs937283A/G polymorphism and breast cancer susceptibility in Saudi women with samples of 137 breast cancer patients, and 98 healthy controls were explored. MDM2 gene polymorphism rs937283A/G was genotyped by polymerase chain reaction restriction fragment length polymorphism and confirmed by sequencing. The results revealed that rs937283A/G variant is significantly increases the risk of breast cancer in Saudi women (p-value = 0.0078). Moreover, rs937283A/G polymorphism was associated with high risk of breast cancer in estrogen positive breast cancer patients (p-value = 0.0088), progesterone positive breast cancer patients (p-value = 0.0043), human epidermal growth factor receptor 2 negative breast cancer patients (p-value = 0.0026), and triple negative breast cancer patients where (p-value = 0.0003). Positive association between increased breast cancer risk and rs937283 variant in premenopausal Saudi women, below 50 years of age, was demonstrated (p-value = 0.0023). Collectively, MDM2 rs937283A/G polymorphism could act as a possible biomarker for breast cancer susceptibility in Saudi women.

乳腺癌是全世界女性死亡的主要原因。遗传多态性在乳腺癌病因中具有重要作用。TP53及其抑制剂鼠双分钟2（MDM2）基因编码在DNA损伤反应中具有关键功能的蛋白质。这些基因中的等位基因变异可能会影响对乳腺癌的敏感性。MDM2启动子多态性rs937283A / G在癌症易感性中起作用，并修饰启动子活性。在本病例对照研究中，对137名乳腺癌患者的样本，研究了沙特女性中MDM2 rs937283A / G多态性与乳腺癌易感性的关系，并探讨了98名健康对照。MDM2基因通过聚合酶链反应限制片段长度多态性对rs937283A / G多态性进行基因分型，并通过测序确认。结果显示，rs937283A / G变异显着增加沙特女性患乳腺癌的风险（p值= 0.0078）。此外，rs937283A / G多态性与雌激素阳性乳腺癌患者（p值= 0.0088），孕激素阳性乳腺癌患者（p值= 0.0043），人表皮生长因子受体2阴性乳腺癌的乳腺癌高风险相关（p值= 0.0026）和三阴性乳腺癌患者（p值= 0.0003）。在绝经前的沙特女性（年龄小于50岁）中，乳腺癌风险增加与rs937283变异之间呈正相关（p值= 0.0023）。总体而言，MDM2 rs937283A / G多态性可能是沙特女性乳腺癌易感性的可能生物标志物。