Cancer Research and Treatment

Original Articles

Hematologic malignancy

Circulating Tumor DNA Reflects Histologic and Clinical Characteristics of Various Lymphoma Subtypes: Jin Ju Kim, Hye Min Kim, Hongkyung Kim, Soo-Jeong Kim, Seung-Tae Lee, Jong Rak Choi, Saeam Shin, Doh Yu Hwang; Cancer Res Treat. 2024;56(1):314-323. Published online July 17, 2023; DOI: https://doi.org/10.4143/crt.2023.667

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Purpose
We designed and evaluated the clinical performance of a plasma circulating tumor DNA (ctDNA) panel of 112 genes in various subtypes of lymphoma.
Materials and Methods
Targeted deep sequencing with an error-corrected algorithm was performed in ctDNA from plasma samples that were collected before treatment in 42 lymphoma patients. Blood buffy coat was utilized as a germline control. We evaluated the targeted gene panel using mutation detection concordance on the plasma samples with matched tissue samples analyzed the mutation profiles of the ctDNA.
Results
Next-generation sequencing analysis using matched tissue samples was available for 18 of the 42 patients. At least one mutation was detected in the majority of matched tissue biopsy samples (88.9%) and plasma samples (83.3%). A considerable number of mutations (40.4%) that were detected in the tissue samples were also found in the matched plasma samples. Majority of patients (21/42) were diffuse large B cell lymphoma patients. The overall detection rate of ctDNA in patients was 85.7% (36/42). The frequently mutated genes included PIM1, TET2, BCL2, KMT2D, KLHL6, HIST1H1E, and IRF8. A cutoff concentration (4,506 pg/mL) of ctDNA provided 88.9% sensitivity and 82.1% specificity to predict ctDNA mutation detection. The ctDNA concentration correlated with elevated lactate dehydrogenase level and the disease stage.
Conclusion
Our design panel can detect many actionable gene mutations, including those at low frequency. Therefore, liquid biopsy can be applied clinically in the evaluation of lymphoma patients, especially in aggressive lymphoma patients.

Citations

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Circulating tumor DNA as a powerful tool in diagnostics and treatment outcome prediction – focus on large B–cell lymphomas and follicular lymphomas
Iva Hamova, Maria Maco, Anton Tkachenko, Kristyna Kupcova, Adriana Velasova, Marek Trneny, Heidi Mocikova, Ondrej Havranek
Expert Review of Molecular Diagnostics.2025; 25(6): 275. CrossRef
Circulating tumor DNA refines risk stratification of neoadjuvant therapy-resistant breast tumors
Mark Jesus M. Magbanua, Nayelis A. Manon, Denise M. Wolf, Samuel Rivero-Hinojosa, Ziad Ahmed, Rosalyn W. Sayaman, Antony Tin, Derrick Renner, Ekaterina Kalashnikova, Lamorna Brown-Swigart, Gillian L. Hirst, Christina Yau, Wen Li, Claudine Isaacs, Rebecca
Nature Communications.2025;[Epub] CrossRef
Clinical applications of circulating tumor DNA in hematological malignancies: From past to the future
Jun-Ying Li, Li-Ping Zuo, Jian Xu, Chun-Yan Sun
Blood Reviews.2024; 68: 101237. CrossRef

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Breast cancer

Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer: Ji Soo Park, Saeam Shin, Yoon Jung Lee, Seung-Tae Lee, Eun Ji Nam, Jung Woo Han, Sun Hwa Lee, Tae Il Kim, Hyung Seok Park; Cancer Res Treat. 2022;54(4):1099-1110. Published online November 17, 2021; DOI: https://doi.org/10.4143/crt.2021.978

Abstract PDF Supplementary Material PubReader ePub

Purpose
The aim of the study was to evaluate the clinical implication of multigene panel testing of beyond BRCA genes in Korean patients with BRCA1/2 mutation-negative breast cancer.
Materials and Methods
Between 2016 and 2019, a total of 700 BRCA1/2 mutation-negative breast cancer patients received comprehensive multigene panel testing and genetic counseling. Among them, 347 patients completed a questionnaire about cancer worry, genetic knowledge, and preference for the method of genetic tests during pre- and post-genetic test counseling. The frequency of pathogenic and likely pathogenic variants (PV/LPV) were analyzed.
Results
At least one PV/LPV of 26 genes was found in 76 out of 700 patients (10.9 %). The rate for PV/LPV was 3.4% for high-risk genes (17 PALB2, 6 TP53, and 1 PTEN). PV/LPVs of clinical actionable genes for breast cancer management, high-risk genes and other moderate-risk genes such as ATM, BARD1, BRIP, CHEK2, NF1, and RAD51D, were observed in 7.4%. Patients who completed the questionnaire showed decreased concerns about the risk of additional cancer development (average score, 4.21 to 3.94; p < 0.001), influence on mood (3.27 to 3.13; p < 0.001), influence on daily functioning (3.03 to 2.94; p=0.006); and increased knowledge about hereditary cancer syndrome (66.9 to 68.8; p=0.025) in post-test genetic counseling. High cancer worry scales (CWSs) were associated with age ≤ 40 years and the identification of PV/LPV. Low CWSs were related to the satisfaction of the counselee.
Conclusion
Comprehensive multigene panel test with genetic counseling is clinically applicable. It should be based on interpretable genetic information, consideration of potential psychological consequences, and proper preventive strategies.

Citations

Citations to this article as recorded by

Prevalence of germline CHEK2 variants in East Asians and Koreans based on population genomic databases
Jong Eun Park, Taeheon Lee, Eun Hye Cho, Mi-Ae Jang, Dongju Won, Boyoung Park, Jung-Sook Ha, Do Hoon Kim, Kyoung-Bo Kim, Chang-Seok Ki, Sun-Young Kong
Breast Cancer.2026; 33(1): 80. CrossRef
Characterization of Copy Number Variants in Hereditary Cancer Patients Through NGS Shows a Distinctive PALB2 Contribution to the Diagnostic Yield
Lia Bonamici, Lucia Artuso, Marco Marino, Angela Toss, Diletta Sidoti, Elena Barbieri, Marta Venturelli, Isabella Marchi, Chiara Pescucci, Rossella Manfredini, Laura Papi, Massimo Dominici, Laura Cortesi, Elena Tenedini, Enrico Tagliafico, Finlay Macrae
Human Mutation.2026;[Epub] CrossRef
Risk-Reducing Mastectomy in BRCA1/2 and Other High-Risk Gene Carriers: Current Evidence and Practical Guidance
Jun-Hee Lee, Jai Min Ryu, Ji Soo Park, Joo Heung Kim, Chihwan David Cha, Kyung Jin Eoh, Yaewon Yang, Bom-Yi Lee, Sang-Ah Han, Sung-Won Kim
Journal of Breast Cancer.2026; 29(1): 1. CrossRef
Pathological features of BRCA-mutated breast cancer in Shenzhen, China: a single-center study
Jiayu Guan, Sihang Lin, Yanjia Liu, Wenbin Zhou
PeerJ.2026; 14: e20813. CrossRef
Evaluation of Team-Based Genetic Counseling Services in Korea
In Hee Choi, Su Min Ji, Seo Yeon Yang, Gu-Hwan Kim, Jinhee Lee, Sunyoung Choi, Beom Hee Lee
Journal of Korean Medical Science.2026;[Epub] CrossRef
A comparative study of molecular characteristics of pathogenic and uncertain significance variants of BRCA1/2 in Chinese breast cancer patients
Jiayu Guan, Jiamei Hu, Sihang Lin, Chen Chen, Yuwei Luo, Wenbin Zhou
BMC Research Notes.2026;[Epub] CrossRef
Impact of germline RAD51D mutations on breast cancer: Susceptibility to DNA-damaging agents
Seongyeon Jo, Wan Cheol Shim, Shinyoung Park, Taeyong Kweon, Won-Ji Ryu, Yumi Hwang, Min Woo Kim, Jee Hyun Ahn, Yoon Jung Lee, Sun Hwa Lee, Dongju Won, Eun Ji Nam, Jung Woo Han, Tae Il Kim, Ji Soo Park, Hyung Seok Park
Molecular Therapy Oncology.2026; 34(2): 201242. CrossRef
Evidence-based advancements in breast cancer genetic counseling: a review
Zahra Batool, Mohammad Amjad Kamal, Bairong Shen
Breast Cancer.2025; 32(2): 258. CrossRef
Exploring Literacy and Knowledge Gaps and Disparities in Genetics and Oncogenomics Among Cancer Patients and the General Population: A Scoping Review
Katerina Nikitara, Maria Luis Cardoso, Astrid Moura Vicente, Célia Maria Batalha Silva Rasga, Roberta De Angelis, Zeina Chamoun Morel, Arcangela De Nicolo, Maria Nomikou, Christina Karamanidou, Christine Kakalou
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Korean patients with hereditary cancer: a prospective multicentre cohort study protocol exploring psychosocial and health outcomes
Jun-Kyu Kim, Mi-Ae Jang, Jong Eun Park, Dongju Won, Jung-Sook Ha, Kyoung-Bo Kim, Boyoung Park, Sun-Young Kong
BMJ Open.2025; 15(2): e093905. CrossRef
PALB2 germline pathogenic variants: frequency, clinical features, and functional analysis of c.3350+5G>A variant in 3987 Korean cancer patients
M.-C. Kang, S. Lee, H. Kim, H.-S. Kang, S.-Y. Jung, J.-A. Hwang, J. Kwon, K.S. Lee, M.C. Lim, S.-Y. Park, S.H. Sim, W. Choi, J.E. Park, E.-H. Cho, S.-Y. Kong
ESMO Open.2025; 10(3): 104132. CrossRef
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Human epidermal growth factor receptor-2 expression and subsequent dynamic changes in patients with ovarian cancer
Yoo-Na Kim, Yun Soo Chung, Eunhyang Park, Seung Tae Lee, Jung-Yun Lee
Scientific Reports.2024;[Epub] CrossRef
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Cancer Research and Treatment.2024; 56(3): 802. CrossRef
Germline RAD51C and RAD51D Mutations in High-Risk Chinese Breast and/or Ovarian Cancer Patients and Families
Ava Kwong, Cecilia Yuen Sze Ho, Chun Hang Au, Sze Keong Tey, Edmond Shiu Kwan Ma
Journal of Personalized Medicine.2024; 14(8): 866. CrossRef
Prevalence Estimation of the PALB2 Germline Variant in East Asians and Koreans through Population Database Analysis
Jong Eun Park, Min-Chae Kang, Taeheon Lee, Eun Hye Cho, Mi-Ae Jang, Dongju Won, Boyoung Park, Chang-Seok Ki, Sun-Young Kong
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10,552 View
226 Download
18 Web of Science
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