Medical scientists successfully mapped the mutation map of PI3K/AKT pathway in breast cancer population in China
April 13, 2018 Source: Xinhuanet
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)];The reporter learned from the Affiliated Tumor Hospital of Fudan University that the director of the Breast Surgery and the Director of the Institute of Cancer Research at Fudan University, Professor Shao Zhimin and Associate Professor Hu Xin, and the research team of Dr. Chen Li and Dr. Yang Liu spent five years exploring the research and mapping the PI3K/AKT pathway for the first time. Gene mutation maps in breast cancer populations in China, and systematically interpret and identify "functional mutations" in pathway genes. Relevant research results were published online in Nature Newsletter on the 11th.
It is reported that there are a large number of signal pathways in the human body; many genes are concentrated on each pathway. The study focused on the PI3K/AKT signaling pathway involved in the regulation of tumor malignant transformation and drug resistance, and sequenced the exon of the mutations of seven genes including PIK3CA, PIK3R1, PTEN and AKT. The highest mutation frequency was found in PIK3CA, accounting for 44%. %, the mutation frequency of the PIK3R1 gene is 17%, and the simultaneous mutation of these two genes accounts for 9%. The research team compared the US tumor and cancer gene map and the tumor somatic cell mutation catalogue database and found that the frequency of PIK3CA mutation in Chinese breast cancer patients is comparable to that in Western databases, and the frequency of PIK3R1 gene mutation is significantly higher than that in Western population.
In order to further clarify which mutations in the PIK3CA and PIK3R1 genes cause breast cancer and drug resistance, the research team independently developed a functional mutation screening system and systematically targeted most of the mutation sites of the two genes. Functional research and identification. Studies have found that mutations at positions 39, 1049, 345, 1043, 1047 in the PIK3CA gene and mutations at positions 160, 329, and 560 in the PIK3R1 gene will result in malignant transformation of breast cells and chemotherapy. The drug epirubicin and the pathway inhibitor BKM120 developed resistance.
"Through this study, we were able to successfully predict the 'bad molecules' that cause rapid proliferation and resistance of breast tumor cells." Professor Shao Zhimin said that the in-depth study of the pathway will provide important justification for clinical drug use and future drug development for these targets, and at the same time vigorously promote comprehensive and precise treatment of breast cancer. (Reporter Qiu Yi)
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