Scientists uncover the complex genetic mystery of cancer risk

August 09, 2016 Source: Bio Valley

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Cancer is a multi-gene disease of the body, but researchers are not clear how the genetic makeup of our body affects the risk of cancer. Recently, a research report published in the international magazine The Lancet Oncology , researchers from Australia to understand the genetic risk of sarcoma through research, the researchers conducted a landmark study of more than 1,000 sarcoma patients, Uncovering a number of new genetic risk factors that trigger cancer, the researchers point out that for any type of cancer, carrying two or more genetic mutations tends to increase an individual's risk of cancer.

Sarcoma is a connective tissue cancer that affects young people. It is also one of the top three causes of death in children and young people in Australia, and sarcoma patients are at higher risk of developing a second cancer. The cancer-related study was conducted by an international sarcoma family study (ISKS) led by Australian researchers who used a "gene detection plate" of 72 genes for each participant's body. The mutations were tested and they were identified in a series of novel genes that specifically increased the risk of sarcoma in individuals, including the genes ERCC2, ATR, BRCA2 and ATM.

More importantly, individuals with two genetic mutations are at a significantly higher risk of developing sarcomas than individuals with only one genetic mutation, and if the individual carries three or more genetic mutations, the risk of cancer is higher. Researcher David Thomas said that for the first time in this study, we found that for any type of cancer, we may be able to determine the effects of multiple rare genetic mutations on the risk of cancer. So far, because we are limited to single-gene thinking, for example, we will tell patients that carrying BRCA1 mutations tends to increase the risk of breast cancer, or if the p53 gene is mutated, the risk of sarcoma and other cancers will Increase and so on. The study points out that the blueprint for cancer risk is much more complicated than we think. Now we can see that by combining the effects of multiple genes, it may increase the risk of sarcoma in individuals, and the more mutations individuals carry. The sooner the performance of cancer occurs. These previously invisible effects are at least as large as those produced by mutations in the p53 gene, and mutations in the p53 gene are thought to be the main cause of sarcoma.

For a range of cancers, such as breast and bowel cancer, the risk of cancer in an individual is often determined by genes that are inherited from the parents; the researchers point out that about half of the participants carry at least one obvious Cancer-promoting mutations, and almost a quarter of individuals carry at least two genetic mutations, and this again shows that the acquisition of sarcoma risk is largely inherited from parents. Professor Thomas said that this study provides some hope for the development of individualized cancer therapies in the later stages; understanding the genetic drivers that increase the individual's cancer may help us understand how to better treat the diseased individual, for the three we have studied For a single individual, the genetic mutations it carries can often provide us with important information about how individuals regularly monitor and treat disease.

For example, the ERCC2 gene is primarily involved in the detoxification of chemotherapeutic agents, so chemotherapy may not be the most appropriate treatment for patients with ERCC2 mutations. For individuals with BRCA2, the risk of sarcoma is the same as that of breast and ovarian cancer, and this may help the researchers to treat patients with new therapies.

Researchers will need to do more research later to reveal how to use the genetic information of the body to change the way cancer patients are treated. The more researchers know, the more accurately they can match patients with the most appropriate treatments to treat the disease. This study provides some clues for scientists to investigate the entire genome in the later stages and to find genetic mutations that increase the risk of sarcoma. The researchers hope to identify a series of mutations that can affect individuals with malignant cancer.

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