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Application of Multigene Panel Testing in Patients With High Risk for Hereditary Colorectal Cancer: A Descriptive Report Focused on Genotype-Phenotype Correlation
DC Field | Value | Language |
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dc.contributor.author | 김원호 | - |
dc.contributor.author | 김태일 | - |
dc.contributor.author | 민병소 | - |
dc.contributor.author | 박수정 | - |
dc.contributor.author | 박재준 | - |
dc.contributor.author | 신상준 | - |
dc.contributor.author | 신새암 | - |
dc.contributor.author | 이승태 | - |
dc.contributor.author | 천재희 | - |
dc.contributor.author | 박지수 | - |
dc.contributor.author | 박정원 | - |
dc.date.accessioned | 2022-08-23T00:40:05Z | - |
dc.date.available | 2022-08-23T00:40:05Z | - |
dc.date.issued | 2022-06 | - |
dc.identifier.issn | 0012-3706 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/189556 | - |
dc.description.abstract | Background: The genetic test solely based on the clinical features of hereditary colorectal cancer has limitations in clinical practice. Objective: This study aimed to analyze the results of comprehensive multigene panel tests based on clinical findings. Design: This was a cross-sectional study based on a prospectively compiled database. Setting: The study was conducted at a tertiary hospital. Patients: A total of 381 patients with high risk for hereditary colorectal cancer syndromes were enrolled between March 2014 and December 2019. Main outcome measures: The primary outcome was to describe the mutational spectrum based on genotype-phenotype concordance and discordance. Results: Germline mutations were identified in 89 patients for polyposis hereditary colorectal cancer genes (76 in APC; 4 in PTEN; 4 in STK11; 3 in BMPR1A; 1 in POLE; 1 in POLD1), 89 patients for nonpolyposis hereditary colorectal cancer genes (41 in MLH1; 40 in MSH2; 6 in MSH6; and 2 in PMS2), and 12 patients for other cancer predisposition genes (1 in ATM; 2 in BRCA1; 1 in BRCA2; 1 in BRIP1; 1 in MLH3; 1 in NBN; 1 in PMS1; 1 in PTCH1; 1 in TP53; and 2 in monoallelic MUTYH). If we had used direct sequencing tests of 1 or 2 major genes based on phenotype, 48 (25.3%) of 190 mutations would not have been detected due to technical differences (12.1%), less frequent genotype (4.2%), unclear phenotype (3.7%), and genotype-phenotype discordance (4.7%). The genotype-phenotype discordance is probably linked to compound heterozygote, less distinctive phenotype, and insufficient information for colorectal cancer risk. Limitations: This study included a small number of patients with insufficient follow-up duration. Conclusions: A comprehensive multigene panel is expected to identify more genetic mutations than phenotype-based direct sequencing, with special utility for unclear phenotype or genotype-phenotype discordance. See Video Abstract at http://links.lww.com/DCR/B844. | - |
dc.description.statementOfResponsibility | restriction | - |
dc.language | English | - |
dc.publisher | Lippincott | - |
dc.relation.isPartOf | DISEASES OF THE COLON & RECTUM | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.subject.MESH | Colorectal Neoplasms* / genetics | - |
dc.subject.MESH | Cross-Sectional Studies | - |
dc.subject.MESH | Genetic Association Studies | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Mismatch Repair Endonuclease PMS2 / genetics | - |
dc.subject.MESH | MutS Homolog 2 Protein / genetics | - |
dc.subject.MESH | Retrospective Studies | - |
dc.title | Application of Multigene Panel Testing in Patients With High Risk for Hereditary Colorectal Cancer: A Descriptive Report Focused on Genotype-Phenotype Correlation | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Internal Medicine (내과학교실) | - |
dc.contributor.googleauthor | Ji Soo Park | - |
dc.contributor.googleauthor | Jung Won Park | - |
dc.contributor.googleauthor | Saeam Shin | - |
dc.contributor.googleauthor | Seung-Tae Lee | - |
dc.contributor.googleauthor | Sang Joon Shin | - |
dc.contributor.googleauthor | Byung Soh Min | - |
dc.contributor.googleauthor | Soo Jung Park | - |
dc.contributor.googleauthor | Jae Jun Park | - |
dc.contributor.googleauthor | Jae Hee Cheon | - |
dc.contributor.googleauthor | Won Ho Kim | - |
dc.contributor.googleauthor | Tae Il Kim | - |
dc.identifier.doi | 10.1097/DCR.0000000000002039 | - |
dc.contributor.localId | A00774 | - |
dc.contributor.localId | A01079 | - |
dc.contributor.localId | A01402 | - |
dc.contributor.localId | A01539 | - |
dc.contributor.localId | A01636 | - |
dc.contributor.localId | A02105 | - |
dc.contributor.localId | A02108 | - |
dc.contributor.localId | A04627 | - |
dc.contributor.localId | A04030 | - |
dc.relation.journalcode | J00744 | - |
dc.identifier.eissn | 1530-0358 | - |
dc.identifier.pmid | 34897210 | - |
dc.identifier.url | https://journals.lww.com/dcrjournal/Fulltext/2022/06000/Application_of_Multigene_Panel_Testing_in_Patients.5.aspx | - |
dc.contributor.alternativeName | Kim, Won Ho | - |
dc.contributor.affiliatedAuthor | 김원호 | - |
dc.contributor.affiliatedAuthor | 김태일 | - |
dc.contributor.affiliatedAuthor | 민병소 | - |
dc.contributor.affiliatedAuthor | 박수정 | - |
dc.contributor.affiliatedAuthor | 박재준 | - |
dc.contributor.affiliatedAuthor | 신상준 | - |
dc.contributor.affiliatedAuthor | 신새암 | - |
dc.contributor.affiliatedAuthor | 이승태 | - |
dc.contributor.affiliatedAuthor | 천재희 | - |
dc.citation.volume | 65 | - |
dc.citation.number | 6 | - |
dc.citation.startPage | 793 | - |
dc.citation.endPage | 803 | - |
dc.identifier.bibliographicCitation | DISEASES OF THE COLON & RECTUM, Vol.65(6) : 793-803, 2022-06 | - |
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