- Postmortem Next-Generation Sequencing in an Autopsy Case with Hypertrophic Cardiomyopathy
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Lee J, Park C, Yang Km
- KMID: 2545376
- Korean J Leg Med.
- 2023 Aug;47(3):79-82.
- doi: 10.7580/kjlm.2023.47.3.79
Postmor tem next-generation sequencing (NGS) plays a crucial role in uncovering previously unidentified genetic causes of death. It provides essential findings useful for counseling affected family members and advancing our... -
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- Concomitant PIK3CA and TP53 Mutations in Breast Cancer: An Analysis of Clinicopathologic and Mutational Features, Neoadjuvant Therapeutic Response, and Prognosis
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Lin XY, Guo L, Lin X, Wang Y, Zhang G
- KMID: 2545769
- J Breast Cancer.
- 2023 Aug;26(4):363-377.
- doi: 10.4048/jbc.2023.26.e30
Purpose: PIK3CA and TP53 are the most prevalently mutated genes in breast cancer (BC). Previous studies have indicated an association between concomitant PIK3CA/TP53 mutations and shorter disease-free survival. As its clinical... -
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- Genomic Characteristics and the Potential Clinical Implications in Oligometastatic Non–Small Cell Lung Cancer
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Liao R, Chen K, Li J, He H, Yi G, Huang M, Chen R, Shen L, Zhang X, Xu Z, Yang Z, Peng Y
- KMID: 2544163
- Cancer Res Treat.
- 2023 Jul;55(3):814-831.
- doi: 10.4143/crt.2022.1315
Purpose Oligometastatic non–small cell lung cancer (NSCLC) patients have been increasingly regarded as a distinct group that could benefit from local treatment to achieve a better clinical outcome. However, current... -
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- Novel Pathogenic Variant in PIEZO2 in a Korean Patient with Distal Arthrogryposis
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Kim T, Lee SA, Choi WA, Kang SW, Choi YC, Park HJ
- KMID: 2542891
- J Electrodiagn Neuromuscul Dis.
- 2023 Apr;25(1):30-33.
- doi: 10.18214/jend.2022.00171
Alterations in PIEZO2 can result in distal arthrogryposis, which is characterized by non-progressive contracture in two or more areas of the body prior to birth. Here, we present a 29-year-old... -
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- Validation and Clinical Application of ONCOaccuPanel for Targeted Next-Generation Sequencing of Solid Tumors
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Kim M, Lee C, Hong J, Kim J, Jeong JY, Park NJY, Kim JE, Park JY
- KMID: 2541230
- Cancer Res Treat.
- 2023 Apr;55(2):429-441.
- doi: 10.4143/crt.2022.891
Purpose Targeted next-generation sequencing (NGS) is widely used for simultaneously detecting clinically informative genetic alterations in a single assay. Its application in clinical settings requires the validation of NGS gene... -
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- Real World Characteristics and Clinical Outcomes of HER2-Mutant Non–Small Cell Lung Cancer Patients Detected by Next-Generation Sequencing
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Ahn BC, Han YJ, Kim HR, Hong MH, Cho BC, Lim SM
- KMID: 2541235
- Cancer Res Treat.
- 2023 Apr;55(2):488-497.
- doi: 10.4143/crt.2022.359
Purpose This study was conducted to investigate the clinical characteristics of patients with advanced non–small cell lung cancer (NSCLC) harboring human epidermal growth factor receptor 2 (HER2) mutations and to... -
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- Utilizing Plasma Circulating Tumor DNA Sequencing for Precision Medicine in the Management of Solid Cancers
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Cha Y, Kim S, Han SW
- KMID: 2541225
- Cancer Res Treat.
- 2023 Apr;55(2):367-384.
- doi: 10.4143/crt.2023.446
Plasma circulating tumor DNA (ctDNA) sequencing has demonstrated clinical utility for tumor molecular profiling at initial diagnosis or tumor progression in advanced solid cancers and is being rapidly incorporated into... -
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- A Case of Blastic Plasmacytoid Dendritic Cell Neoplasm with Mutations in DNMT3A, TET2, SRSF2, and ATRX Genes
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Yoo DW, Park KD, Kwon HJ, Kim KH, Yoon JH
- KMID: 2539339
- Korean J Dermatol.
- 2023 Jan;61(1):57-61.
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and aggressive lymphoma with an overall incidence of 0.04 cases per 100,000 people. BPDCN is a hematopoietic clonal neoplasm that originates... -
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- Genomic Signatures from Clinical Tumor Sequencing in Patients with Breast Cancer Having Germline BRCA1/2 Mutation
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Kim JW, Kang HE, Choi J, Yun SG, Jung SP, Bae SY, You JY, Choi YJ, Kim YH, Park KH
- KMID: 2538001
- Cancer Res Treat.
- 2023 Jan;55(1):155-166.
- doi: 10.4143/crt.2021.1567
Purpose BRCA1 and BRCA2 are among the most important genes involved in DNA repair via homologous recombination (HR). Germline BRCA1/2 (gBRCA1/2)-related cancers have specific characteristics and treatment options but conducting gBRCA1/2... -
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- Establishing Patient-Derived Cancer Cell Cultures and Xenografts in Biliary Tract Cancer
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Kang J, Lee JY, Lee S, Kim D, Lim J, Jun HR, Jeon S, Kim YA, Park HS, Kim Kp, Chun SM, Lee HJ, Yoo C
- KMID: 2538006
- Cancer Res Treat.
- 2023 Jan;55(1):219-230.
- doi: 10.4143/crt.2021.1166
Purpose Biliary tract cancers (BTCs) are rare and show a dismal prognosis with limited treatment options. To improve our understanding of these heterogeneous tumors and develop effective therapeutic agents, suitable preclinical... -
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- A new era of genetic diagnosis for short stature children: A review
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Kim YM
- KMID: 2538086
- Precis Future Med.
- 2022 Dec;6(4):218-225.
- doi: 10.23838/pfm.2022.00142
Children with short stature are often presented to pediatric endocrinologists. Short stature is defined as the height that is more than two standard deviations below the corresponding mean height for... -
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- Drug Discovery Platform Using Organoids
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Maeng JE, Kim SC, Song MH, Jeong N, Ku JL
- KMID: 2536425
- J Dig Cancer Res.
- 2022 Dec;10(2):82-91.
- doi: 10.52927/jdcr.2022.10.2.82
Gastrointestinal cancer accounts for one-third of the overall cancer occurrence worldwide. Pancreatic ductal adenocarcinoma (PDAC) is a type of gastrointestinal cancer that is known to be one of the most fatal... -
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- Somatic Mutations of TP53 Identified by Targeted Next-Generation Sequencing Are Poor Prognostic Factors for Primary Operable Breast Cancer: A Single-Center Study
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Park JH, Kwon MJ, Seo J, Kim HY, Min SK, Kim LS
- KMID: 2534775
- J Breast Cancer.
- 2022 Oct;25(5):379-386.
- doi: 10.4048/jbc.2022.25.e41
Few studies have reported on the clinical utility of targeted next-generation sequencing (NGS) for breast cancer in Korea. We retrospectively reviewed the targeted NGS data of 219 patients with breast... -
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- Clinical Implication of Molecular Tumor Board
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Lee S
- KMID: 2534386
- Korean J Med.
- 2022 Oct;97(5):319-322.
- doi: 10.3904/kjm.2022.97.5.319
Due to rapid technical advances, steeply declining sequencing costs, and the ever-increasing number of targeted therapies, it is expected that extensive tumor DNA or RNA sequencing will be applied in... -
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- Clinical Application of Next-Generation Sequencing in Patients With Breast Cancer: Real-World Data
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Suh KJ, Kim SH, Kim YJ, Shin H, Kang E, Kim EK, Lee S, Woo JW, Na HY, Ahn S, Jang BS, Kim IA, Park SY, Kim JH
- KMID: 2534774
- J Breast Cancer.
- 2022 Oct;25(5):366-378.
- doi: 10.4048/jbc.2022.25.e30
Purpose: Next-generation sequencing (NGS)-based tumor panel testing has been reimbursed by the Korean government since 2017. We evaluated the use of NGS-based tumor panel testing in real-world clinical practice, focusing... -
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- Establishment of Patient-Derived Pancreatic Cancer Organoids from Endoscopic Ultrasound-Guided Fine-Needle Aspiration Biopsies
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Lee JH, Kim H, Lee SH, Ku JL, Chun JW, Seo HY, Kim SC, Paik WH, Ryu JK, Lee SK, Lowy AM, Kim YT
- KMID: 2531245
- Gut Liver.
- 2022 Jul;16(4):625-636.
- doi: 10.5009/gnl210166
Background/Aims: Three-dimensional cultures of human pancreatic cancer tissue also known as “organoids” have largely been developed from surgical specimens. Given that most patients present with locally advanced and/or metastatic disease,... -
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- Genetic, Clinicopathological, and Radiological Features of Intrahepatic Cholangiocarcinoma with Ductal Plate Malformation Pattern
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Chung T, Rhee H, Shim HS, Yoo JE, Choi GH, Kim H, Park YN
- KMID: 2531244
- Gut Liver.
- 2022 Jul;16(4):613-624.
- doi: 10.5009/gnl210174
Background/Aims: Intrahepatic cholangiocarcinoma (iCCA) with a ductal plate malformation (DPM) pattern is a recently recognized rare variant. The genomic profile of iCCA with DPM pattern needs to be elucidated. Methods: Cases... -
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- A novel variant of PHEX in a Korean family with X-linked hypophosphatemic rickets
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Kim S, Kim S, Kim N
- KMID: 2531192
- J Genet Med.
- 2022 Jun;19(1):27-31.
- doi: 10.5734/JGM.2022.19.1.27
X-linked dominant hypophosphatemic rickets are the most common form of familial hypophosphatemic rickets resulting from hypophosphatemia caused by renal phosphate wasting, which in turn is a result of loss-of-function mutations... -
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- Germline pathogenic variants in unselected Korean men with prostate cancer
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So MK, Ahn HK, Huh J, Kim KH
- KMID: 2529349
- Investig Clin Urol.
- 2022 May;63(3):294-300.
- doi: 10.4111/icu.20220044
Purpose: Prostate cancer is one of the most heritable cancers and prostate cancer with germline mutations is associated with aggressive features and a poor prognosis. We investigated germline variants in... -
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- Microbiome Analysis Using Next-Generation Sequencing in Urinary Tract Infections
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Han H, Lee JY
- KMID: 2529461
- Urogenit Tract Infect.
- 2022 Apr;17(1):1-7.
- doi: 10.14777/uti.2022.17.1.1
In recent decades, the understanding of the genetic information of microbes and hosts has advanced considerably with the development of next-generation sequencing (NGS). For infectious diseases, genomic analysis can provide... -
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