Mutations of cancer cells can be detected by DNA in blood plasma
A blood test has been developed to determine mutations of cancer cells
The results of the work of a group of scientists led by Nitzan Rosenfeld from the University of Cambridge in the UK are published in the journal Science Translational Medicine (Forshew et al., Noninvasive Identification and Monitoring of Cancer Mutations by Targeted Deep Sequencing of Plasma DNA).
The blood plasma of cancer patients contains parts of extracellular tumor DNA. The technique of Rosenfeld and his colleagues is based on sequencing of circulating DNA. After sequencing, it is possible to determine which type of mutation is present in cancer cells. The sensitivity and specificity of the method is more than 97 percent.
To quickly determine the type of mutation, Rosenfeld's group studied 5,995 genomic databases, from which both common and rare mutations in six cancer-related genes were isolated. As a result, doctors have created a database that contains information about 20 thousand deviations in the genome.
To test their technique, the scientists took blood plasma samples from 46 women suffering from ovarian cancer. Samples were taken from patients before, during and after chemotherapy. In one of the patients, using a new technique, it was possible to determine the mutation of the EGFR gene, which cannot be detected during ovarian biopsy.
For 16 months, scientists tracked how the tumor of one of the patients responds to various types of treatment. During monitoring, they found 10 mutations of metastatic breast cancer.
"This type of blood test can revolutionize the diagnosis and treatment of cancer. Its advantage is that it does not require surgery or biopsy to detect mutations of cancer cells, which makes it safer and cheaper," Rosenfeld said in an interview with the Daily Mail.
"Our technique allows you to monitor the development of the disease in real time, helping to adjust treatment," the publication quotes one of the co–authors of the study, Dr. James Brenton (James Brenton).
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