Jake June-Koo Lee
- Cancer Genomics and Diagnostics
- Lung Cancer Treatments and Mutations
- Lung Cancer Research Studies
- RNA modifications and cancer
- Genomics and Phylogenetic Studies
- Neuroendocrine Tumor Research Advances
- Genomic variations and chromosomal abnormalities
- Genetic factors in colorectal cancer
- Genomics and Rare Diseases
- Evolution and Genetic Dynamics
- Genomics and Chromatin Dynamics
- Epigenetics and DNA Methylation
- Cancer-related Molecular Pathways
- Bioinformatics and Genomic Networks
- Microtubule and mitosis dynamics
- Cancer-related molecular mechanisms research
- Chromosomal and Genetic Variations
- DNA Repair Mechanisms
- Hippo pathway signaling and YAP/TAZ
- Gene expression and cancer classification
- Pancreatic and Hepatic Oncology Research
- Genetics, Bioinformatics, and Biomedical Research
- Gastric Cancer Management and Outcomes
- Cancer-related gene regulation
- CRISPR and Genetic Engineering
Harvard University
2018-2025
Memorial Sloan Kettering Cancer Center
2024
Massachusetts General Hospital
2023
German Cancer Research Center
2020-2022
Heidelberg University
2020-2022
Korea Advanced Institute of Science and Technology
2015-2020
Seoul National University Hospital
2011-2017
Korea Institute of Science & Technology Information
2017
Seoul National University
2012-2016
New Generation University College
2014
Abstract A key mutational process in cancer is structural variation, which rearrangements delete, amplify or reorder genomic segments that range size from kilobases to whole chromosomes 1–7 . Here we develop methods group, classify and describe somatic variants, using data the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium International Cancer Genome (ICGC) The Atlas (TCGA), aggregated whole-genome sequencing 2,658 cancers across 38 tumour types 8 Sixteen signatures variation...
Chromothripsis is a mutational phenomenon characterized by massive, clustered genomic rearrangements that occurs in cancer and other diseases. Recent studies selected types have suggested chromothripsis may be more common than initially inferred from low-resolution copy-number data. Here, as part of the Pan-Cancer Analysis Whole Genomes (PCAWG) Consortium International Cancer Genome (ICGC) The Atlas (TCGA), we analyze patterns across 2,658 tumors 38 using whole-genome sequencing We find...
All cancers harbor molecular alterations in their genomes. The transcriptional consequences of these somatic mutations have not yet been comprehensively explored lung cancer. Here we present the first large scale RNA sequencing study adenocarcinoma, demonstrating its power to identify point as well variants such gene fusions, alternative splicing events, and expression outliers. Our results reveal genetic basis 200 adenocarcinomas Koreans including deep characterization 87 surgical specimens...
Purpose Histologic transformation of EGFR mutant lung adenocarcinoma (LADC) into small-cell cancer (SCLC) has been described as one the major resistant mechanisms for epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs). However, molecular pathogenesis is still unclear. Methods We investigated 21 patients with advanced EGFR-mutant LADCs that were transformed TKI-resistant SCLCs. Among them, whole genome sequencing was applied nine tumors acquired at various time points...
Abstract About half of all cancers have somatic integrations retrotransposons. Here, to characterize their role in oncogenesis, we analyzed the patterns and mechanisms retrotransposition 2,954 cancer genomes from 38 histological subtypes within framework Pan-Cancer Analysis Whole Genomes (PCAWG) project. We identified 19,166 somatically acquired events, which affected 35% samples spanned a range event types. Long interspersed nuclear element (LINE-1; L1 hereafter) insertions emerged as first...
Chromatin is folded into successive layers to organize linear DNA. Genes within the same topologically associating domains (TADs) demonstrate similar expression and histone-modification profiles, boundaries separating different have important roles in reinforcing stability of these features. Indeed, domain disruptions human cancers can lead misregulation gene expression. However, frequency remains unclear. Here, as part Pan-Cancer Analysis Whole Genomes (PCAWG) Consortium International...
Focal copy-number amplification is an oncogenic event. Although recent studies have revealed the complex structure
Whole chromosome and arm-level copy number alterations occur at high frequencies in tumors, but their selective advantages, if any, are poorly understood. Here, utilizing unbiased whole genetic screens combined with vitro evolution to generate arm- subarm-level events, we iteratively selected the fittest karyotypes from aneuploidized human renal mammary epithelial cells. Proliferation-based karyotype selection these lines modeled tissue-specific tumor aneuploidy patterns patient cohorts...
Primary cilia exert a profound impact on cell signalling and cycle progression. Recently, actin cytoskeleton destabilization has been recognized as dominant inducer of ciliogenesis, but the exact mechanisms regulating ciliogenesis remain poorly understood. Here we show that remodelling controls by transcriptional coactivator YAP/TAZ well ciliary vesicle trafficking. Cytoplasmic retention correlates with active either in spatially confined cells or treated an filament destabilizer. Moreover,...
Pancreatic ductal adenocarcinoma (PDAC) is an aggressive, lethal malignancy that invades adjacent vasculatures and spreads to distant sites before clinical detection. Although invasion into the peripancreatic vasculature one of hallmarks PDAC, paradoxically, PDAC tumors also exhibit hypovascularity. How become hypovascular poorly understood. We describe organotypic PDAC-on-a-chip culture model emulates vascular tumor-blood vessel interactions better understand PDAC-vascular interactions. The...
Abstract Cancers require telomere maintenance mechanisms for unlimited replicative potential. They achieve this through TERT activation or alternative lengthening associated with ATRX DAXX loss. Here, as part of the ICGC/TCGA Pan-Cancer Analysis Whole Genomes (PCAWG) Consortium , we dissect whole-genome sequencing data over 2500 matched tumor-control samples from 36 different tumor types aggregated within to characterize genomic footprints these mechanisms. While content tumors mutations...
Somatic genome mutations occur due to combinations of various intrinsic/extrinsic mutational processes and DNA repair mechanisms. Different molecular frequently generate different signatures somatic in their own favored contexts. As a result, the regional mutation rate is dependent on local sequence, replication/RNA transcription dynamics epigenomic chromatin organization landscape genome. Here, we propose an online computational framework, termed Mutalisk, which correlates with genomic,...
Nuclear protein in testis (NUT) midline carcinoma (NMC) is a rare aggressive malignancy often occurring the tissues of anatomical structures. Except for pathognomonic BRD3/4-NUT rearrangement, comprehensive landscape genomic alterations NMCs has been unexplored.We investigated three NMC cases, including two newly diagnosed patients Seoul National University Hospital, and previously reported cell line (Ty-82). Whole-genome transcriptome sequencing were carried out these findings validated by...