Cancer diagnosis by gene methylation
Epigenetic test detected cervical cancer at an early stage better than standard types of diagnostics
It focuses on the expression of the EPB41L3 gene, which inhibits cell division
Maxim Abdulaev, "The Attic"
A new test for human papillomavirus and cervical cancer has shown high accuracy. Thanks to the new test, the number of necessary visits to the doctor and additional tests that are needed to identify the threat of cervical cancer is reduced.
Cervical cancer develops largely due to the human papillomavirus (HPV). HPV causes dysplasia to occur in the cervix – atypical cells begin to appear on its surface. Dysplasia, in turn, is fraught with the appearance of neoplasms and cancer.
Cervical dysplasia has three stages of development, and doctors conducted a study to test a new technique that was supposed to identify its second and third stages and cancer, if it developed.
The currently available testing methods are based on a smear study, in which they look for altered cells that can degenerate into cancerous cells, and gene analysis, which should show the presence of HPV. The new method developed by British scientists works differently: it looks not so much for genes and altered cells, as it detects the methylation of the EPB41L3 gene, which, as previous studies have shown, is associated with the appearance of a tumor. Methylation, i.e. attachment of a methyl group to DNA, stops gene expression.
The functions of the protein that encodes the EPB41L3 gene are still unknown, but the gene itself inhibits cell proliferation, that is, prevents them from dividing. It was found that the methylation of the EPB41L3 gene is associated with the activity of cancer cells, which, by and large, are only engaged in dividing uncontrollably. The new test is also looking for methylated EPB41L3 genes, thus showing the risk of cancer.
Scientists conducted a randomized study of 15,000 women who were divided into three groups: those who were tested using a genetic HPV test, a group in which a new test was tested, and a third, a control, where a Pap smear (Pap smear) was used, the most common test for cervical cancer, invented back in the 40s.x years of the XX century. The study participants were tested twice, with an interval of one year.
The results of the study showed that the new methylation-based test is more effective: it revealed third-degree dysplasia in 93% of cases, while Pap smear only in 61%.
The scientists also included in each group the results of eight women who had been diagnosed with cervical cancer at that time, and the new test recognized cancer in all eight cases, and the Pap test – only in two.
The new technique was needed because one generally accepted type of screening, the Pap test, detects only the third stage of dysplasia well, and another way to identify the risk of future cancer - checking for HPV genes – gives too many positive results – not all cases of HPV infection necessarily lead to cancer. The new test allows you to notice the earliest signals of painful changes in cells in the cervix. According to the authors of the study, the new test can be put into practice within five years.
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