Scientists discover novel breast cancer genetic mutations in Chinese population
March 11, 2016 Source: Bio Valley
Window._bd_share_config={ "common":{ "bdSnsKey":{ },"bdText":"","bdMini":"2","bdMiniList":false,"bdPic":"","bdStyle":" 0","bdSize":"16"},"share":{ }};with(document)0[(getElementsByTagName('head')[0]||body).appendChild(createElement('script')) .src='http://bdimg.share.baidu.com/static/api/js/share.js?v=89860593.js?cdnversion='+~(-new Date()/36e5)];Individuals carrying BRCA1 and BRCA2 genetic mutations are often high-risk breast cancer individuals, but these mutations usually occur only in 10% to 15% of hereditary breast cancers, and many other mutations need to be elucidated.
At the European Breast Cancer Conference on March 10th, researcher Ava Kwong described genetic mutations associated with high-risk breast cancer in Chinese minority populations. The researchers screened 1,114 patients in the Hong Kong Hereditary Breast Cancer Family Registry for a genetic screening. Family history suggests that these individuals have a higher risk of breast cancer, but none of these individuals carry the four types of breast cancer. Genetic mutations: BRCA1, BRCA2, TP53 and PTEN mutations.
The researchers said that we chose to detect RECQL mutations, and the RECQL mutation was found to be directly related to the increased risk of breast cancer. The researchers pointed out that the proportion of RECQL in female organisms in southern China is 0.54%, while in the female body in the north. The incidence rate is similar, for example, the incidence rate in Beijing individuals is 2%. The level of morbidity means that the RECQL mutation may be sufficient as an important factor to genetically screen Chinese people with a family history of breast cancer to find the origin of the disease. Next researchers need to do more research to understand whether they can find The mutation to the original, the mutation in the DNA of the original individual body; at the same time, the researchers also found two different RECQL mutation sites in different families.
When the newly formed colonies are very small, their founders often strongly influence the genetic composition of all the later populations, such as the three original BRCA mutations found in the Ashkenazi Jews. The scale of Chinese immigrants means RECQL mutations are likely to be quite prevalent in countries outside Asia. For example, in 2010 about 3.5 million Chinese lived in the United States, and 400,000 people lived in the UK.
Investigating breast cancer patients living in Hong Kong, the researchers identified two potential frequent mutations, and the researchers needed to do a lot of work to confirm the "grandparents" who carried these frequent mutations. The RECQL mutation is thought to be directly related to the poor prognosis of all patients with liver cancer, pancreatic cancer and head and neck cancer, and the RECQL mutation is also directly related to the risk of cardiovascular disease in the patient family.
The researchers hope that this study can screen for high-risk women and develop new special drugs to target individuals with special mutations. Finally, researcher Fatima Cardoso said that in the future we will incorporate RECQL mutations into the breast. In the genetic screening of cancer individuals, from a clinical practice point of view, we all realize that the genetic risk of patients and families seems to be very high, but we did not find four common breast cancer-related gene mutations in these mutations. Therefore, revealing the special genetic loci in Chinese Chinese organisms may help us to screen mutations more quickly and help develop new preventive strategies or therapies to effectively treat breast cancer.
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