Marouf Chaymaa, Tazzite Amal, Diakité Brehima, Jouhadi Hassan, Benider Abdellatif, Nadifi Sellama
Genetics and Molecular Pathology Laboratory, Medical School of Casablanca, University Hassan II, Casablanca, Morocco,
Tumour Biol. 2014 Dec;35(12):12403-8. doi: 10.1007/s13277-014-2556-y. Epub 2014 Sep 9.
TP53 is a tumor suppressor gene involved in cell cycle progression control, DNA damage repair, genomic stability, and apoptosis. Some polymorphisms in this gene have been associated with the development of a number of cancers including breast carcinoma. PIN3 Ins16bp polymorphism has been widely studied in different populations for an association with breast cancer risk. In most case-control studies, a duplicated allele has been more frequent in cases rather than controls but there are also inconsistent results. The present study aimed to assess the association of PIN3 Ins16bp polymorphism of p53 with breast cancer risk in Moroccan population. This case-control study was performed on 105 female patients with confirmed breast cancer and 114 healthy controls. The genotype frequency was 69.5 % (A1A1), 26.7 % (A1A2), and 3.8 % (A2A2) in patients and 68.4 % (A1A1), 24.6 % (A1A2), and 7 % (A2A2) in controls. No statistically significant association was observed between PIN3 Ins16bp polymorphism and breast cancer risk with odds ratio of 1.07 (confidence interval (CI) = 0.58-1.97, p = 0.83) for the heterozygous A1A2 and 0.53 (CI = 0.15-1.85, p = 0.32) for mutated homozygous A2A2.According to our preliminary genetic analysis, PIN3 Ins16pb polymorphism could not be assessed as a marker of risk factor for predisposition to breast cancer in Moroccan population. However, a high frequency of A2 allele (19.3 %) in our population suggested that PIN3 Ins16pb polymorphism may be a valuable marker for study in other cancers with larger groups.
TP53是一种肿瘤抑制基因，参与细胞周期进程控制、DNA损伤修复、基因组稳定性和细胞凋亡。该基因的一些多态性与包括乳腺癌在内的多种癌症的发生有关。PIN3 Ins16bp多态性已在不同人群中广泛研究其与乳腺癌风险的关联。在大多数病例对照研究中，重复等位基因在病例中比在对照中更常见，但也有不一致的结果。本研究旨在评估摩洛哥人群中p53基因PIN3 Ins16bp多态性与乳腺癌风险的关联。这项病例对照研究对105名确诊为乳腺癌的女性患者和114名健康对照进行。患者的基因型频率为69.5%（A1A1）、26.7%（A1A2）和3.8%（A2A2），对照的基因型频率为68.4%（A1A1）、24.6%（A1A2）和7%（A2A2）。PIN3 Ins16bp多态性与乳腺癌风险之间未观察到统计学上的显著关联，杂合子A1A2的优势比为1.07（置信区间（CI）=0.58 - 1.97，p = 0.83），突变纯合子A2A2的优势比为0.53（CI = 0.15 - 1.85，p = 0.32）。根据我们的初步基因分析，PIN3 Ins16pb多态性不能被评估为摩洛哥人群中乳腺癌易感性的危险因素标志物。然而，我们人群中A2等位基因的高频率（19.3%）表明，PIN3 Ins16pb多态性可能是在其他更大规模人群的癌症研究中有价值的标志物。
