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Advanced Studies of Cancer Rely Heavily on Whole Genome Sequencing -- To Track Cell Changes and Provide Personalized Treatments

Advanced Studies of Cancer Rely Heavily on Whole Genome Sequencing -- To Track Cell Changes and Provide Personalized Treatments
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18 Aprilie, 2021

Cancer is so hard to treat. Every sixth death in the world is due to cancer, making it the second leading cause of death. Biomedical scientists have been looking for any possible ways to discover the ‘hidden secrets’ inside cancer cells. And they believe that if know the sequence of all human genes would be helpful for cancer research. Recently, an international study has shown that whole genome sequencing of tumor cells could help predict the prognosis of a patient's cancer and provide clues to identify the most effective treatment.

A complete human genome contains three billion base pairs of DNA, and even differences in the sequence of a single base paircan lead to different individual characteristicssuch as skin color, hair color and height. The absence or variation of some of these sequences is one of the causes of many diseases. It is the sequencing of individual genomes of species with unknown genome sequences to obtain information on genetic relationships, origin or susceptibility to specific diseases, and to detect mutations occurring in the DNA. It reveals the mystery of human birth, aging, disease and death, and enables humans to fundamentally recognize the causes of diseases, so as to correctly treat diseases and prevent diseases as soon as possible.

Whole genome sequencing has been successfully used for cancer diagnosis. In previous reports, researchers from the University of Chicago found that a woman without an obvious family history of cancer was suffering from early-onset breast and ovarian cancer, as well as therapy-related acute myeloid leukemia (t-AML). Through the whole genome sequencing of this woman, a new TP53 gene mutation was identified. This affirmed that whole genome sequencing avoided the limitations of conventional gene testing by conducting unbiased investigations of the genome and was able to detect structural variants that are often omitted from routine tests.

Also, Stanford Medical Center for Genetic Cardiovascular Disease has recently begun using whole genome sequencing instead of gene panel detection of all internal genetic diseases. The use of whole genome sequencing can not only continue to provide clinical validation, but also expand the scope of search and analysis when the etiology can not be identified at an early stage. In addition, the initiative can accumulate more data related to clinical cases and help accelerate the detection of pathogenic variants and potential multi-gene risk factors. Due to the characteristics of time saving and cost reduction, more and more researchers use this technique and gradually realize the advantages of collecting more comprehensive data. It has become the preferred method for detecting variations in genes that are susceptible to cancer.

To evaluate the clinical value of whole genome sequencing, researchers at the University of Cambridge, in collaboration with colleagues in Sweden, launched a project called Scan-B to analyze tumors from patients who had been diagnosed as having triple negative breast cancers (TNBC) by whole genome sequencing.

"Whole genome sequencing gives us a complete view of the cancer genome. It reveals many things that we couldn't see previously, because we simply did not look for them," explains Dr. Serena Nik-Zainal at the University of Cambridge, who led the study.

Importantly, this technique can identify which patients with triple-negative breast cancer are more sensitive to drugs currently in clinical use, and point out directions to the mechanisms associated with poor prognosis and develop new drugs for such patients.

The advent of whole genome sequencing has brought revolutionary progress to personalized therapy within bounds of possibility. Whole genome sequencing provides an atlas of somatic mutagenesis in healthy human cells and is an integral part of the Human Genome Project. However, the results of genetic testing have great uncertainty and instability at present. To truly understand genetic variation in humans, scientists need to sequence genes of tens of millions of people, and the only way to get that much data is to share it. In the future of personalized medicine, whole genome sequence data may be an important tool to guide therapeutic intervention.

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