Skip Navigation
Skip to contents

J Pathol Transl Med : Journal of Pathology and Translational Medicine

OPEN ACCESS
SEARCH
Search

Search

Page Path
HOME > Search
2 "High-throughput nucleotide sequencing"
Filter
Filter
Article category
Keywords
Publication year
Authors
Funded articles
Case Study
Article image
Colorectal cancer with a germline BRCA1 variant inherited paternally: a case report
Kyoung Min Kim, Min Ro Lee, Ae Ri Ahn, Myoung Ja Chung
J Pathol Transl Med. 2024;58(6):341-345.   Published online September 5, 2024
DOI: https://doi.org/10.4132/jptm.2024.08.14
  • 1,014 View
  • 131 Download
AbstractAbstract PDF
BRCA genes have well-known associations with breast and ovarian cancers. However, variations in the BRCA gene, especially germline variations, have also been reported in colorectal cancer (CRC). We present the case of a rectal cancer with a germline BRCA1 variation inherited from the paternal side. A 39-year-old male was admitted with rectal cancer. The patient underwent surgical resection and the pathologic diagnosis was adenocarcinoma. Next-generation sequencing was performed and a BRCA1 variant was detected. Reviewing the public database and considering the young age of the patient, the variant was suggested to be germline. The patient’s father had had prostate cancer and next-generation sequencing testing revealed an identical BRCA1 variant. In the BRCA cancer group, there is relatively little attention paid to male cancers. The accumulation of male CRC cases linked to BRCA variations may help clarify the potential pathological relationship between the two.
Review
Good Laboratory Standards for Clinical Next-Generation Sequencing Cancer Panel Tests
Jihun Kim, Woong-Yang Park, Nayoung K. D. Kim, Se Jin Jang, Sung-Min Chun, Chang-Ohk Sung, Jene Choi, Young-Hyeh Ko, Yoon-La Choi, Hyo Sup Shim, Jae-Kyung Won
J Pathol Transl Med. 2017;51(3):191-204.   Published online May 10, 2017
DOI: https://doi.org/10.4132/jptm.2017.03.14
  • 23,602 View
  • 1,077 Download
  • 32 Web of Science
  • 33 Crossref
AbstractAbstract PDF
Next-generation sequencing (NGS) has recently emerged as an essential component of personalized cancer medicine due to its high throughput and low per-base cost. However, no sufficient guidelines for implementing NGS as a clinical molecular pathology test are established in Korea. To ensure clinical grade quality without inhibiting adoption of NGS, a taskforce team assembled by the Korean Society of Pathologists developed laboratory guidelines for NGS cancer panel testing procedures and requirements for clinical implementation of NGS. This consensus standard proposal consists of two parts: laboratory guidelines and requirements for clinical NGS laboratories. The laboratory guidelines part addressed several important issues across multistep NGS cancer panel tests including choice of gene panel and platform, sample handling, nucleic acid management, sample identity tracking, library preparation, sequencing, analysis and reporting. Requirements for clinical NGS tests were summarized in terms of documentation, validation, quality management, and other required written policies. Together with appropriate pathologist training and international laboratory standards, these laboratory standards would help molecular pathology laboratories to successfully implement NGS cancer panel tests in clinic. In this way, the oncology community would be able to help patients to benefit more from personalized cancer medicine.

Citations

Citations to this article as recorded by  
  • Pragmatic nationwide master observational trial based on genomic alterations in advanced solid tumors: KOrean Precision Medicine Networking Group Study of MOlecular profiling guided therapy based on genomic alterations in advanced Solid tumors (KOSMOS)-II
    Sun Young Kim, Jee Hyun Kim, Tae-Yong Kim, Sook Ryun Park, Shinkyo Yoon, Soohyeon Lee, Se-Hoon Lee, Tae Min Kim, Sae-Won Han, Hye Ryun Kim, Hongseok Yun, Sejoon Lee, Jihun Kim, Yoon-La Choi, Kui Son Choi, Heejung Chae, Hyewon Ryu, Gyeong-Won Lee, Dae Youn
    BMC Cancer.2024;[Epub]     CrossRef
  • Reporting of somatic variants in clinical cancer care: recommendations of the Swiss Society of Molecular Pathology
    Yann Christinat, Baptiste Hamelin, Ilaria Alborelli, Paolo Angelino, Valérie Barbié, Bettina Bisig, Heather Dawson, Milo Frattini, Tobias Grob, Wolfram Jochum, Ronny Nienhold, Thomas McKee, Matthias Matter, Edoardo Missiaglia, Francesca Molinari, Sacha Ro
    Virchows Archiv.2024;[Epub]     CrossRef
  • Validation and Clinical Application of ONCOaccuPanel for Targeted Next-Generation Sequencing of Solid Tumors
    Moonsik Kim, Changseon Lee, Juyeon Hong, Juhee Kim, Ji Yun Jeong, Nora Jee-Young Park, Ji-Eun Kim, Ji Young Park
    Cancer Research and Treatment.2023; 55(2): 429.     CrossRef
  • Establishing molecular pathology curriculum for pathology trainees and continued medical education: a collaborative work from the Molecular Pathology Study Group of the Korean Society of Pathologists
    Jiwon Koh, Ha Young Park, Jeong Mo Bae, Jun Kang, Uiju Cho, Seung Eun Lee, Haeyoun Kang, Min Eui Hong, Jae Kyung Won, Youn-La Choi, Wan-Seop Kim, Ahwon Lee
    Journal of Pathology and Translational Medicine.2023; 57(5): 265.     CrossRef
  • Clinical applications of next-generation sequencing in the diagnosis of genetic disorders in Korea: a narrative review
    Jihoon G. Yoon, Man Jin Kim, Yong Jin Kwon, Jong-Hee Chae
    Journal of the Korean Medical Association.2023; 66(10): 613.     CrossRef
  • Obtaining spatially resolved tumor purity maps using deep multiple instance learning in a pan-cancer study
    Mustafa Umit Oner, Jianbin Chen, Egor Revkov, Anne James, Seow Ye Heng, Arife Neslihan Kaya, Jacob Josiah Santiago Alvarez, Angela Takano, Xin Min Cheng, Tony Kiat Hon Lim, Daniel Shao Weng Tan, Weiwei Zhai, Anders Jacobsen Skanderup, Wing-Kin Sung, Hwee
    Patterns.2022; 3(2): 100399.     CrossRef
  • Update on Molecular Diagnosis in Extranodal NK/T-Cell Lymphoma and Its Role in the Era of Personalized Medicine
    Ka-Hei (Murphy) Sun, Yin-Ting (Heylie) Wong, Ka-Man (Carmen) Cheung, Carmen (Michelle) Yuen, Yun-Tat (Ted) Chan, Wing-Yan (Jennifer) Lai, Chun (David) Chao, Wing-Sum (Katie) Fan, Yuen-Kiu (Karen) Chow, Man-Fai Law, Ho-Chi (Tommy) Tam
    Diagnostics.2022; 12(2): 409.     CrossRef
  • Defining Novel DNA Virus-Tumor Associations and Genomic Correlates Using Prospective Clinical Tumor/Normal Matched Sequencing Data
    Chad M. Vanderbilt, Anita S. Bowman, Sumit Middha, Kseniya Petrova-Drus, Yi-Wei Tang, Xin Chen, Youxiang Wang, Jason Chang, Natasha Rekhtman, Klaus J. Busam, Sounak Gupta, Meera Hameed, Maria E. Arcila, Marc Ladanyi, Michael F. Berger, Snjezana Dogan, Ahm
    The Journal of Molecular Diagnostics.2022; 24(5): 515.     CrossRef
  • Performance Evaluation of Three DNA Sample Tracking Tools in a Whole Exome Sequencing Workflow
    Gertjan Wils, Céline Helsmoortel, Pieter-Jan Volders, Inge Vereecke, Mauro Milazzo, Jo Vandesompele, Frauke Coppieters, Kim De Leeneer, Steve Lefever
    Molecular Diagnosis & Therapy.2022; 26(4): 411.     CrossRef
  • Clinical Quality Considerations when Using Next-Generation Sequencing (NGS) in Clinical Drug Development
    Timothé Ménard, Alaina Barros, Christopher Ganter
    Therapeutic Innovation & Regulatory Science.2021; 55(5): 1066.     CrossRef
  • Fast Healthcare Interoperability Resources (FHIR)–Based Quality Information Exchange for Clinical Next-Generation Sequencing Genomic Testing: Implementation Study
    Donghyeong Seong, Sungwon Jung, Sungchul Bae, Jongsuk Chung, Dae-Soon Son, Byoung-Kee Yi
    Journal of Medical Internet Research.2021; 23(4): e26261.     CrossRef
  • Status of Next-Generation Sequencing-Based Genetic Diagnosis in Hematologic Malignancies in Korea (2017-2018)
    JinJu Kim, Ja Young Lee, Jungwon Huh, Myung-Hyun Nam, Myungshin Kim, Young-Uk Cho, Sun-Young Kong, Seung-Tae Lee, In-Suk Kim
    Laboratory Medicine Online.2021; 11(1): 25.     CrossRef
  • MSI-Testung
    Josef Rüschoff, Gustavo Baretton, Hendrik Bläker, Wolfgang Dietmaier, Manfred Dietel, Arndt Hartmann, Lars-Christian Horn, Korinna Jöhrens, Thomas Kirchner, Ruth Knüchel, Doris Mayr, Sabine Merkelbach-Bruse, Hans-Ulrich Schildhaus, Peter Schirmacher, Mark
    Der Pathologe.2021; 42(4): 414.     CrossRef
  • Molecular biomarker testing for non–small cell lung cancer: consensus statement of the Korean Cardiopulmonary Pathology Study Group
    Sunhee Chang, Hyo Sup Shim, Tae Jung Kim, Yoon-La Choi, Wan Seop Kim, Dong Hoon Shin, Lucia Kim, Heae Surng Park, Geon Kook Lee, Chang Hun Lee
    Journal of Pathology and Translational Medicine.2021; 55(3): 181.     CrossRef
  • MSI testing
    Josef Rüschoff, Gustavo Baretton, Hendrik Bläker, Wolfgang Dietmaier, Manfred Dietel, Arndt Hartmann, Lars-Christian Horn, Korinna Jöhrens, Thomas Kirchner, Ruth Knüchel, Doris Mayr, Sabine Merkelbach-Bruse, Hans-Ulrich Schildhaus, Peter Schirmacher, Mark
    Der Pathologe.2021; 42(S1): 110.     CrossRef
  • 16S rDNA microbiome composition pattern analysis as a diagnostic biomarker for biliary tract cancer
    Huisong Lee, Hyeon Kook Lee, Seog Ki Min, Won Hee Lee
    World Journal of Surgical Oncology.2020;[Epub]     CrossRef
  • Risk Stratification Using a Novel Genetic Classifier IncludingPLEKHS1Promoter Mutations for Differentiated Thyroid Cancer with Distant Metastasis
    Chan Kwon Jung, Seung-Hyun Jung, Sora Jeon, Young Mun Jeong, Yourha Kim, Sohee Lee, Ja-Seong Bae, Yeun-Jun Chung
    Thyroid.2020; 30(11): 1589.     CrossRef
  • Biomarker testing for advanced lung cancer by next-generation sequencing; a valid method to achieve a comprehensive glimpse at mutational landscape
    Anurag Mehta, Smreti Vasudevan, Sanjeev Kumar Sharma, Manoj Panigrahi, Moushumi Suryavanshi, Mumtaz Saifi, Ullas Batra
    Applied Cancer Research.2020;[Epub]     CrossRef
  • Application Areas of Traditional Molecular Genetic Methods and NGS in relation to Hereditary Urological Cancer Diagnosis
    Dmitry S. Mikhaylenko, Alexander S. Tanas, Dmitry V. Zaletaev, Marina V. Nemtsova
    Journal of Oncology.2020; 2020: 1.     CrossRef
  • Assembling and Validating Bioinformatic Pipelines for Next-Generation Sequencing Clinical Assays
    Jeffrey A SoRelle, Megan Wachsmann, Brandi L. Cantarel
    Archives of Pathology & Laboratory Medicine.2020; 144(9): 1118.     CrossRef
  • Standard operating procedure for somatic variant refinement of sequencing data with paired tumor and normal samples
    Erica K. Barnell, Peter Ronning, Katie M. Campbell, Kilannin Krysiak, Benjamin J. Ainscough, Lana M. Sheta, Shahil P. Pema, Alina D. Schmidt, Megan Richters, Kelsy C. Cotto, Arpad M. Danos, Cody Ramirez, Zachary L. Skidmore, Nicholas C. Spies, Jasreet Hun
    Genetics in Medicine.2019; 21(4): 972.     CrossRef
  • A DNA pool of FLT3-ITD positive DNA samples can be used efficiently for analytical evaluation of NGS-based FLT3-ITD quantitation - Testing several different ITD sequences and rates, simultaneously
    Zoltán A. Mezei, Dávid Tornai, Róza Földesi, László Madar, Andrea Sümegi, Mária Papp, Péter Antal-Szalmás
    Journal of Biotechnology.2019; 303: 25.     CrossRef
  • Pharmacogenomic Testing: Clinical Evidence and Implementation Challenges
    Catriona Hippman, Corey Nislow
    Journal of Personalized Medicine.2019; 9(3): 40.     CrossRef
  • Cancer Panel Assay for Precision Oncology Clinic: Results from a 1-Year Study
    Dohee Kwon, Binnari Kim, Hyeong Chan Shin, Eun Ji Kim, Sang Yun Ha, Kee-Taek Jang, Seung Tae Kim, Jeeyun Lee, Won Ki Kang, Joon Oh Park, Kyoung-Mee Kim
    Translational Oncology.2019; 12(11): 1488.     CrossRef
  • Analytical Evaluation of an NGS Testing Method for Routine Molecular Diagnostics on Melanoma Formalin-Fixed, Paraffin-Embedded Tumor-Derived DNA
    Irene Mancini, Lisa Simi, Francesca Salvianti, Francesca Castiglione, Gemma Sonnati, Pamela Pinzani
    Diagnostics.2019; 9(3): 117.     CrossRef
  • Benchmark Database for Process Optimization and Quality Control of Clinical Cancer Panel Sequencing
    Donghyeong Seong, Jongsuk Chung, Ki-Wook Lee, Sook-Young Kim, Byung-Suk Kim, Jung-Keun Song, Sungwon Jung, Taeseob Lee, Donghyun Park, Byoung-Kee Yi, Woong-Yang Park, Dae-Soon Son
    Biotechnology and Bioprocess Engineering.2019; 24(5): 793.     CrossRef
  • Use of the Ion PGM and the GeneReader NGS Systems in Daily Routine Practice for Advanced Lung Adenocarcinoma Patients: A Practical Point of View Reporting a Comparative Study and Assessment of 90 Patients
    Simon Heeke, Véronique Hofman, Elodie Long-Mira, Virginie Lespinet, Salomé Lalvée, Olivier Bordone, Camille Ribeyre, Virginie Tanga, Jonathan Benzaquen, Sylvie Leroy, Charlotte Cohen, Jérôme Mouroux, Charles Marquette, Marius Ilié, Paul Hofman
    Cancers.2018; 10(4): 88.     CrossRef
  • Use of the Ion AmpliSeq Cancer Hotspot Panel in clinical molecular pathology laboratories for analysis of solid tumours: With emphasis on validation with relevant single molecular pathology tests and the Oncomine Focus Assay
    Ahwon Lee, Sung-Hak Lee, Chan Kwon Jung, Gyungsin Park, Kyo Young Lee, Hyun Joo Choi, Ki Ouk Min, Tae Jung Kim, Eun Jung Lee, Youn Soo Lee
    Pathology - Research and Practice.2018; 214(5): 713.     CrossRef
  • Recent Advancement of the Molecular Diagnosis in Pediatric Brain Tumor
    Jeong-Mo Bae, Jae-Kyung Won, Sung-Hye Park
    Journal of Korean Neurosurgical Society.2018; 61(3): 376.     CrossRef
  • The long tail of molecular alterations in non-small cell lung cancer: a single-institution experience of next-generation sequencing in clinical molecular diagnostics
    Caterina Fumagalli, Davide Vacirca, Alessandra Rappa, Antonio Passaro, Juliana Guarize, Paola Rafaniello Raviele, Filippo de Marinis, Lorenzo Spaggiari, Chiara Casadio, Giuseppe Viale, Massimo Barberis, Elena Guerini-Rocco
    Journal of Clinical Pathology.2018; 71(9): 767.     CrossRef
  • Clinical laboratory utilization management and improved healthcare performance
    Christopher Naugler, Deirdre L. Church
    Critical Reviews in Clinical Laboratory Sciences.2018; 55(8): 535.     CrossRef
  • Development of HLA-A, -B and -DR Typing Method Using Next-Generation Sequencing
    Dong Hee Seo, Jeong Min Lee, Mi Ok Park, Hyun Ju Lee, Seo Yoon Moon, Mijin Oh, So Young Kim, Sang-Heon Lee, Ki-Eun Hyeong, Hae-Jin Hu, Dae-Yeon Cho
    The Korean Journal of Blood Transfusion.2018; 29(3): 310.     CrossRef
  • Value-based genomics
    Jun Gong, Kathy Pan, Marwan Fakih, Sumanta Pal, Ravi Salgia
    Oncotarget.2018; 9(21): 15792.     CrossRef

J Pathol Transl Med : Journal of Pathology and Translational Medicine
TOP