Clinical significance of TP53 (R72P) and MDM2 (T309G) polymorphisms in breast cancer patients

• DOI: 10.1007/s12094-015-1425-5
• Publication Date: 2015-11-09T11:48:33Z
• Authors: P. Yadav; M. Masroor; K. Tanwer; R. Mir; J. Javid; I. Ahmad; M. Zuberi; R. C. M. Kaza; S. K. Jain; N. Khurana; P. C. Ray; A. Saxena
• Keywords: Adult; Genotype; Carcinoma, Ductal, Breast; Breast Neoplasms; Proto-Oncogene Proteins c-mdm2; Middle Aged; Genes, p53; Polymerase Chain Reaction; Polymorphism, Single Nucleotide; 3. Good health; 03 medical and health sciences; 0302 clinical medicine; Asian People; Case-Control Studies; Humans; Female; Genetic Predisposition to Disease

TP53 gene is the most frequently altered tumor suppressor gene in breast cancer. It has been observed that MDM2 plays a central role in regulating the TP53 pathway. This study aimed to investigate the role of TP53 Arg72Pro and MDM2 T309G polymorphisms in breast cancer patients.The TP53 (Arg72Pro) and MDM2 (T309G) polymorphisms were studied in a hospital-based case control study by AS-PCR in 100 breast cancer patients and 100 healthy control subjects.It was observed that TP53 Arg72Pro polymorphism was significantly associated with breast cancer (χ (2) = 9.92, p = 0.007). A significantly increased breast cancer risk was associated with the Proline allele [odds ratio 1.84 (95 % CI: 1.22-2.77), risk ratio 1.34 (95 % CI: 1.11-1.63), p value 0.003], HER2/neu status (p = 0.01) and distant metastasis (p = 0.05). On the other hand, we have found a significant correlation between MDM2 (T309G) polymorphism with HER2/neu status (χ (2) = 11.14, p = 0.003) and distant metastasis (p value = 0.04).Our finding suggests that TP53 (Arg72Pro) polymorphism may play a significant role as risk factor for breast cancer in north Indian breast cancer patients. While MDM2 (T309G) polymorphism may not be directly associated with the risk of breast cancer occurrence in the same population, but it may play role in disease progression by triggering TP53.