Abstract
TP53 mutations are the most common genetic alterations in human cancers. There are also several polymorphisms in both exons and introns of TP53 that may influence its anti-tumor functions and increase the risk of cancer development. Associations of the TP53 intron 6 G13964C polymorphism with increased risk of development of several cancers have been investigated in numerous studies, but the results were controversial and conflicting. In this study, we aimed to investigate the probable association of this polymorphism with risk of both thyroid and breast cancers among the Iranian-Azeri population. We performed two separate case control studies on associations of the intron 6 polymorphism with two different kinds of cancer. In one case-control study, a total of 75 patients with thyroid carcinoma and 180 controls were analyzed and the other study included 170 patients with breast cancer and 135 healthy women. The intron 6 genotype was determined by RFLP-PCR and the SPSS 16 program was applied for data analysis. For thyroid cancer, the frequencies of GG genotype were 96.0% in patients and 93.3% in controls. The GC genotype had a frequency of 4.0% in patients and 6.7% in controls. In the study on breast cancer, the frequency of GG and GC genotypes in patients were 95.3% and 4.7%, respectively. In breast related control group, the frequency of GG genotype was 93.3% and the frequency of GC genotype was 6.7%. None of the cases and controls had the CC genotype. There was no significant association between the TP53 intron 6 G13964C polymorphism and risk of development of both thyroid and breast cancer in Iranian-Azeri patients.
Highlights
TP53 gene encodes a crucial transcription factor that is activated in response to various stresses such as hypoxia, DNA damage and oncogene activation and protects cells from neoplastic transformation through cell cycle arrest or apoptosis (Stegh et al, 2012; Pouladi et al, 2013)
This group included 135 women and 45 men that all of them were analyzed as controls in relation to thyroid cancer but only the women participated as control group in association study of G13964C polymorphism with breast cancer
Buller and et al found the 13964C variant of intron 6 in three ovarian cancer patients with a history of metachronous breast cancer. They considered it as a polymorphism, because it was located in the intronic region and did not show an association with TP53 overexpression in tumor samples obtained from patients carrying C allele (Buller et al, 1995)
Summary
TP53 gene encodes a crucial transcription factor that is activated in response to various stresses such as hypoxia, DNA damage and oncogene activation and protects cells from neoplastic transformation through cell cycle arrest or apoptosis (Stegh et al, 2012; Pouladi et al, 2013) This tumor suppressor protein is mutated in about half of the cancers and it seems that the other half is developed by alterations in P53 related genes or pathways (MachadoSilva et al, 2010; Sedaie-Bonab et al, 2014). Associations of the TP53 intron 6 G13964C polymorphism with increased risk of development of several cancers have been investigated in numerous studies, but the results were controversial and conflicting. Conclusions: There was no significant association between the TP53 intron 6 G13964C polymorphism and risk of development of both thyroid and breast cancer in Iranian-Azeri patients
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