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유전성 암 유전자에서 검출된 염기 변이의 해석을 위한 기능 연구 근거의 적용
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 김보연 | - |
dc.contributor.author | 김윤정 | - |
dc.contributor.author | 신새암 | - |
dc.contributor.author | 이경아 | - |
dc.date.accessioned | 2022-08-23T00:21:43Z | - |
dc.date.available | 2022-08-23T00:21:43Z | - |
dc.date.issued | 2022-07 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/189394 | - |
dc.description.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. | - |
dc.description.statementOfResponsibility | open | - |
dc.language | Korean | - |
dc.publisher | Korean Society for Laboratory Medicine | - |
dc.relation.isPartOf | Laboratory Medicine Online | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.title | 유전성 암 유전자에서 검출된 염기 변이의 해석을 위한 기능 연구 근거의 적용 | - |
dc.title.alternative | Applying Functional Assay Evidence to Interpret Sequence Variants Identified in Hereditary Cancer Genes | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Laboratory Medicine (진단검사의학교실) | - |
dc.contributor.googleauthor | 최유정 | - |
dc.contributor.googleauthor | 김보연 | - |
dc.contributor.googleauthor | 김윤정 | - |
dc.contributor.googleauthor | 신새암 | - |
dc.contributor.googleauthor | 이경아 | - |
dc.identifier.doi | 10.47429/lmo.2022.12.3.145 | - |
dc.contributor.localId | A06055 | - |
dc.contributor.localId | A00793 | - |
dc.contributor.localId | A02108 | - |
dc.contributor.localId | A02647 | - |
dc.relation.journalcode | J02151 | - |
dc.identifier.eissn | 2093-6338 | - |
dc.subject.keyword | Functional assay | - |
dc.subject.keyword | Variant interpretation | - |
dc.subject.keyword | Hereditary cancer | - |
dc.subject.keyword | Variant of uncertain significance | - |
dc.contributor.alternativeName | Kim, Boyeon | - |
dc.contributor.affiliatedAuthor | 김보연 | - |
dc.contributor.affiliatedAuthor | 김윤정 | - |
dc.contributor.affiliatedAuthor | 신새암 | - |
dc.contributor.affiliatedAuthor | 이경아 | - |
dc.citation.volume | 12 | - |
dc.citation.number | 3 | - |
dc.citation.startPage | 145 | - |
dc.citation.endPage | 158 | - |
dc.identifier.bibliographicCitation | Laboratory Medicine Online, Vol.12(3) : 145-158, 2022-07 | - |
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