Sriramulu Sushmitha, Ramachandran Murugesan, Subramanian Saraswathi, Kannan Rathiusha, Gopinath Madhumala, Sollano Jose, Bissi Laura, Banerjee Antara, Marotta Francesco, Pathak Surajit
Faculty of Allied Health Sciences, Chettinad Hospital and Research Institute (CHRI), Chettinad Academy of Research and Education (CARE), Kelambakkam, Chennai-603103, India.
Acta Biomed. 2019 Jan 15;89(4):463-469. doi: 10.23750/abm.v89i4.6095.
Colorectal cancer found to be the most commonly occurring cancer worldwide which can be prevented by screening and its curable if diagnosed early. Lynch syndrome/HNPCC being an autosomal genetic disease and propensity in forming colorectal cancer is inherited wherein genomic instabilities and epigenetic changes are being the characteristic forms in hereditary cancers. It is very important to determine the polymorphism in several DNA repairing genes such as ATM, RAD51, XRCC2, XRCC3 and XRCC9 to study the risk exploring both the prognosis and the developing of colorectal cancer. The role of ATM gene has been studied which involves in the hereditary transfer of colorectal cancer associated with other related cancers such as stomach, lung and breast cancers. ATM found to be the mutation target and also a modifier gene with more risk of developing the disease by its polymorphism in variant of ATM D1853N. It was identified that ATM gene polymorphism did not drastically change HNPCC age of onset. ATM expression levels were studied and it has been concluded that the complete loss of ATM expression resulted in a propensity of worse survival and no better prognosis with increase in mortality rate. This ATM gene might be considered to be a predicted biomarker in colorectal cancer.
结直肠癌是全球最常见的癌症，可通过筛查预防，若早期诊断则可治愈。林奇综合征/遗传性非息肉病性结直肠癌是一种常染色体遗传病，其患结直肠癌的倾向是遗传的，其中基因组不稳定和表观遗传变化是遗传性癌症的典型形式。确定多个DNA修复基因（如ATM、RAD51、XRCC2、XRCC3和XRCC9）的多态性对于研究结直肠癌的风险、预后及发展非常重要。已对ATM基因的作用进行了研究，其涉及与其他相关癌症（如胃癌、肺癌和乳腺癌）相关的结直肠癌的遗传传递。发现ATM是突变靶点，也是一个修饰基因，因其ATM D1853N变体中的多态性而有更高的患病风险。已确定ATM基因多态性并未显著改变遗传性非息肉病性结直肠癌的发病年龄。对ATM表达水平进行了研究，得出的结论是，ATM表达完全丧失会导致生存倾向变差、预后不佳且死亡率增加。该ATM基因可能被视为结直肠癌的一个预测生物标志物。
