Analysis Of Genetic Mutations In Mismatch Repair Genes In Endometrial Cancer Based On Next-generation Sequencing

Endometrial cancer(Endometrial Carcinoma,EC)is one of the most common gynecological malignancies.In recent years,the incidence of EC among women in China has also been increasing year by year,which seriously threatens the health of Chinese women.Although there are many factors that cause endometrial cancer,it is usually discovered that the cancer has developed to a certain extent and triggered clinical manifestations,which seriously affects the treatment effect.Therefore,there is an urgent need for early screening,early detection and early treatment for the prevalence of endometrial cancer.Among the many factors that cause endometrial cancer,genetic changes are an important cause of endometrial cancer.Therefore,studying the relationship between genetic mutations and endometrial cancer can guide the uterus through genetic mutation testing.Early screening of endometrial cancer.This project collects whole blood samples of 198 endometrial cancer patients from the Cancer Hospital of Fudan University from January 2014 to July 2017,and uses next-generation sequencing(NGS)to detect endometrial cancer patients.Germline mutations of DNA mismatch repair(MMR)genes(including MSH2,MSH6,PMS2,MLH1)and other genetic-related genes,analyze the germline mutations of MMR genes in patients with endometrial cancer Relevant clinical and biological characteristics.To study the influence of the germline mutation of MMR gene on the onset and progression of endometrial cancer,to provide more effective objective indicators for the early diagnosis and early screening of endometrial cancer.First of all,we found that 26%(18/69)of patients under the age of 50 carry germline genetic mutations.Except for a BRCA1 pathogenic mutation,the others involve MMR genes.Second,when we focused on Lynch syndrome(Lynch syndrome,LS)patients,a total of 45 patients were identified as pathogenic germline genetic mutations carrying the MMR gene,and the mutation rates of the two genes MSH2 and MSH6 were higher.We also detected a pathogenic mutation in the PALB2 gene in a patient sample from a family without breast cancer.In addition,we also detected pathogenic mutations in both PMS2 and BRCA1 genes in one family.To sum up,the research of this subject has found that although the germline genetic mutation of the MMR gene is not the whole cause of EC,the frequency of the population with the germline genetic mutation of the MMR gene is not Much higher than other groups of people.Therefore,early screening for germ line genetic mutations of MMR genes is very necessary.In addition,NGS is used for early screening of MMR genes for germline genetic mutations with high accuracy,and based on clinical information and tumor phenotypes,patients should be recommended to use multi-gene panels.Tumor genetic testing.Then,the research of this subject also proved the genetic complexity in EC,and further research on current problems is needed.