The comparison between TP53 gene polymorphisms (c.[215G>C]) homozygotes and heterozygotes in Breast Cancer Patients: A clinicopathological analysis

Abstract

Purpose: TP53 is a tumor suppressor gene which participates in regulation of cell cycle check points, DNA repair, and apoptosis. The aim of this study was to compare TP53 germ line gene polymorphisms (c.[215G>C]) wild – type homozygotes GG with heterozygotes GC according to clinicopathological factors.

Methods: We reviewed the medical records of 87 (22% TP53 gene homozygotes and 78% heterozygotes) breast cancer patients who were diagnosed and treated in COI in Gliwice. Polymorphism profile was assessed by RFLP-PCR technique.

Results: The presence of lobular invasive carcinoma was observed insignificantly more often in homozygotes, especially in the group of patients at the age below 50 years (29% vs. 4%, p = 0.095). Patients being TP53 gene heterozygotes had larger tumor size (T > 2) than homozygotes (16% vs. 5%, p = 0.450). There was observed a tendency to the presence of lymph node metastases (53% vs. 34%, p = 0.182) and higher Ki67 (> 20%) (69% vs. 46%, p = 0.209) in TP53 gene homozygotes. HER2 overexpression was associated with TP53 heterozygotes, especially in the group of patients at the age above 50 years (33% vs. 8%, p = 0.144). A negative receptor status was reported more frequently in homozygotes (43% vs.21%, p = 0.340) in patients with age below 50 years. Similarly higher histological grade G3 was detected more often in homozygotes in patients at the age below 50 years (80% vs. 33%, p = 0.130).

Conclusion: TP53 gene homozygotes and heterozygotes differ from each other in respect of clinicopathological factors such as: histological type, lymph node metastases, higher Ki67 (> 20%), histological grade G3, ER/PR status, tumor size (T > 2), HER2 overexpression, cancer in family history and diabetes. Patient’s age was associated with the pathological characteristics of tumor.