Àá½Ã¸¸ ±â´Ù·Á ÁÖ¼¼¿ä. ·ÎµùÁßÀÔ´Ï´Ù.
KMID : 1100820220120030145
Laboratory Medicine Online
2022 Volume.12 No. 3 p.145 ~ p.158
Applying Functional Assay Evidence to Interpret Sequence Variants Identified in Hereditary Cancer Genes
Choi Yu-Jeong

Kim Bo-Yeon
Kim Yoon-Jung
Shin Sae-Am
Lee Kyung-A
Abstract
The demand for the interpretation of sequence variants identified by next-generation sequencing is gradually increasing in clinical laboratories. The American College of Medical Genetics and the Association for Molecular Pathology (ACMG/AMP) 2015 guidelines provide a basis for using functional assays as strong evidence for variant classification. However, it is challenging to use the evidence because the protein¡¯s function and the functional assays used to prove it are too diverse. Therefore, this study reviewed various functional assays that can aid in classifying sequence variants in clinical laboratories. This review focuses on the 1) general functional assays associated with basic protein functions and processing and 2) functional assays related to the specific pathogenic mechanisms of four genes (TP53, BRCA1, CDH1, and PTEN) associated with hereditary cancer.
KEYWORD
Functional assay, Variant interpretation, Hereditary cancer, Variant of uncertain significance
FullTexts / Linksout information
Listed journal information
KoreaMed