返回Google圖書搜尋

A Preliminary Study of Genetic Susceptibility and Treatment Related Gene Profiling in Chinese Ovarian Cancer Patients

出版	2017
URL	http://books.google.com.hk/books?id=v-e6zQEACAAJ&hl=&source=gbs_api

註釋Objectives: The purpose of our study was to present genetic susceptibility and treatment related gene profiling in Chinese ovarian cancer patients.Methods: We have applied next-generation sequencing in consecutive patients who underwent primary surgery for ovarian cancer since 2016 at our institution. Germline/somatic mutations including BRCA1/2, HR pathway-related genes and MMR genes were detected. Results: A total of 308 patients have been enrolled so far. 209 paired FFPE tissues were tests for somatic mutations. Of the 308 patients, 21% (65/308) patients are germline BRCA1/2 pathogenic/likely-pathogenic mutations, and 7.2% patients have other hereditary related variations. The types of pathogenic mutations were mainly frameshift mutations and nonsense mutations. The genetic risk is associated with childbearing age and number of births(p