单位:[1]Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Mol Pathol Res Ctr, Dept Pathol, Beijing, Peoples R China[2]Chinese Acad Med Sci & Peking Union Med Coll, Canc Hosp, Natl Canc Ctr, Beijing, Peoples R China[3]Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Wuhan, Peoples R China华中科技大学同济医学院附属同济医院[4]Fudan Univ, Shanghai Canc Ctr, Dept Pathol, Shanghai, Peoples R China[5]Fudan Univ, Shanghai Med Coll, Inst Pathol, Dept Oncol, Shanghai, Peoples R China[6]Sun Yat Sen Univ, Canc Ctr, Dept Mol Diagnost, Guangzhou, Peoples R China[7]Sun Yat Sen Univ, Canc Ctr, Collaborat Innovat Ctr Canc Med, State Key Lab Oncol South China, Guangzhou, Peoples R China
International guidelines recommendBRCAtesting for patients with breast and ovarian cancer. Little is known about the genetic testing practices ofBRCA1/2mutations in laboratories across China. This study was designed to assess the discrepancies in genetic testing procedures ofBRCA1/2mutations across China. An online survey was developed for depicting theBRCA1/2testing landscape in China. Our results show that there were several variations among the laboratories in technologies adopted, large genomic rearrangement detection, probe design, quality control, variant of uncertain significance interpretation, and disposition of variants in public databases. The discrepancies observed in our study would affect the authenticity of results, thus necessitating the formulation of proper national and international guidelines for optimalBRCA1/2testing clinical practice for efficient management and patient care of this population.
基金:
AstraZeneca ChinaAstraZeneca; MSD China; Illumina China; ThermoFisher China; Chinese Academy of Medical Sciences (CAMS) Initiative for Innovative Medicine (CAMS-I2M) [2016-I2M-1-002]
第一作者单位:[1]Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Mol Pathol Res Ctr, Dept Pathol, Beijing, Peoples R China
共同第一作者:
通讯作者:
推荐引用方式(GB/T 7714):
Wu Huanwen,Xu Binghe,Gao Qinglei,et al.Discrepancies in Genetic Testing Procedures ofBRCA1/2Mutations: A National Survey Across China[J].MOLECULAR DIAGNOSIS & THERAPY.2020,24(6):715-721.doi:10.1007/s40291-020-00489-0.
APA:
Wu, Huanwen,Xu, Binghe,Gao, Qinglei,Zhou, Xiaoyan,Shao, Jianyong...&Ma, Ding.(2020).Discrepancies in Genetic Testing Procedures ofBRCA1/2Mutations: A National Survey Across China.MOLECULAR DIAGNOSIS & THERAPY,24,(6)
MLA:
Wu, Huanwen,et al."Discrepancies in Genetic Testing Procedures ofBRCA1/2Mutations: A National Survey Across China".MOLECULAR DIAGNOSIS & THERAPY 24..6(2020):715-721