Discrepancies in Genetic Testing Procedures of BRCA1/2 Mutations: A National Survey Across China View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2020-09-24

AUTHORS

Huanwen Wu, Binghe Xu, Qinglei Gao, Xiaoyan Zhou, Jianyong Shao, Zhiyong Liang, Ding Ma

ABSTRACT

International guidelines recommend BRCA testing for patients with breast and ovarian cancer. Little is known about the genetic testing practices of BRCA1/2 mutations in laboratories across China. This study was designed to assess the discrepancies in genetic testing procedures of BRCA1/2 mutations across China. An online survey was developed for depicting the BRCA1/2 testing 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 optimal BRCA1/2 testing clinical practice for efficient management and patient care of this population. More... »

PAGES

715-721

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s40291-020-00489-0

DOI

http://dx.doi.org/10.1007/s40291-020-00489-0

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1131141909

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/32970304


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