高级检索
当前位置: 首页 > 详情页

Discrepancies in Genetic Testing Procedures ofBRCA1/2Mutations: A National Survey Across China

文献详情

资源类型:
WOS体系:
Pubmed体系:

收录情况: ◇ SCIE

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 [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
出处:
ISSN:

摘要:
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:

基金编号: 2016-I2M-1-002

语种:
被引次数:
WOS:
PubmedID:
中科院(CAS)分区:
出版当年[2019]版:
大类 | 3 区 医学
小类 | 3 区 药学 4 区 遗传学
最新[2025]版:
大类 | 3 区 医学
小类 | 3 区 遗传学 3 区 药学
JCR分区:
出版当年[2018]版:
Q2 PHARMACOLOGY & PHARMACY Q2 GENETICS & HEREDITY
最新[2023]版:
Q1 GENETICS & HEREDITY Q1 PHARMACOLOGY & PHARMACY

影响因子: 最新[2023版] 最新五年平均 出版当年[2018版] 出版当年五年平均 出版前一年[2017版] 出版后一年[2019版]

第一作者:
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):
APA:
MLA:

资源点击量:590 今日访问量:1 总访问量:442 更新日期:2025-06-01 建议使用谷歌、火狐浏览器 常见问题

版权所有:重庆聚合科技有限公司 渝ICP备12007440号-3 地址:重庆市两江新区泰山大道西段8号坤恩国际商务中心16层(401121)