Cancer Research and Treatment

Original Articles

Breast cancer

A 10-Gene Signature to Predict the Prognosis of Early-Stage Triple-Negative Breast Cancer: Chang Min Kim, Kyong Hwa Park, Yun Suk Yu, Ju Won Kim, Jin Young Park, Kyunghee Park, Jong-Han Yu, Jeong Eon Lee, Sung Hoon Sim, Bo Kyoung Seo, Jin Kyeoung Kim, Eun Sook Lee, Yeon Hee Park, Sun-Young Kong; Cancer Res Treat. 2024;56(4):1113-1125. Published online May 10, 2024; DOI: https://doi.org/10.4143/crt.2024.100

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Purpose
Triple-negative breast cancer (TNBC) is a particularly challenging subtype of breast cancer, with a poorer prognosis compared to other subtypes. Unfortunately, unlike luminal-type cancers, there is no validated biomarker to predict the prognosis of patients with early-stage TNBC. Accurate biomarkers are needed to establish effective therapeutic strategies.
Materials and Methods
In this study, we analyzed gene expression profiles of tumor samples from 184 TNBC patients (training cohort, n=76; validation cohort, n=108) using RNA sequencing.
Results
By combining weighted gene expression, we identified a 10-gene signature (DGKH, GADD45B, KLF7, LYST, NR6A1, PYCARD, ROBO1, SLC22A20P, SLC24A3, and SLC45A4) that stratified patients by risk score with high sensitivity (92.31%), specificity (92.06%), and accuracy (92.11%) for invasive disease-free survival. The 10-gene signature was validated in a separate institution cohort and supported by meta-analysis for biological relevance to well-known driving pathways in TNBC. Furthermore, the 10-gene signature was the only independent factor for invasive disease-free survival in multivariate analysis when compared to other potential biomarkers of TNBC molecular subtypes and T-cell receptor β diversity. 10-gene signature also further categorized patients classified as molecular subtypes according to risk scores.
Conclusion
Our novel findings may help address the prognostic challenges in TNBC and the 10-gene signature could serve as a novel biomarker for risk-based patient care.

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Significance of Multi-Cancer Genome Profiling Testing for Breast Cancer: A Retrospective Analysis of 3326 Cases from Japan’s National Database
Kyoka Kawabata, Hinano Nishikubo, Saki Kanei, Rika Aoyama, Yuki Tsukada, Tomoya Sano, Daiki Imanishi, Takashi Sakuma, Koji Maruo, Yurie Yamamoto, Qiang Wang, Zhonglin Zhu, Canfeng Fan, Masakazu Yashiro
Genes.2024; 15(6): 792. CrossRef

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Rare cancer

Clinical Features of Li-Fraumeni Syndrome in Korea: Ran Song, Sun-Young Kong, Wonyoung Choi, Eun-Gyeong Lee, Jaeyeon Woo, Jai Hong Han, Seeyoun Lee, Han-Sung Kang, So-Youn Jung; Cancer Res Treat. 2024;56(1):334-341. Published online August 9, 2023; DOI: https://doi.org/10.4143/crt.2023.794

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Purpose
Li-Fraumeni syndrome (LFS) is a hereditary disorder caused by germline mutation in TP53. Owing to the rarity of LFS, data on its clinical features are limited. This study aimed to evaluate the clinical characteristics and prognosis of Korean patients with LFS.
Materials and Methods
Patients who underwent genetic counseling and confirmed with germline TP53 mutation in the National Cancer Center in Korea between 2011 and 2022 were retrospectively reviewed. Data on family history with pedigree, types of mutation, clinical features, and prognosis were collected.
Results
Fourteen patients with LFS were included in this study. The median age at diagnosis of the first tumor was 32 years. Missense and nonsense mutations were observed in 13 and one patients, respectively. The repeated mutations were p.Arg273His, p.Ala138Val, and pPro190Leu. The sister with breast cancer harbored the same mutation of p.Ala138Val. Seven patients had multiple primary cancers. Breast cancer was most frequently observed, and other types of tumor included sarcoma, thyroid cancer, pancreatic cancer, brain tumor, adrenocortical carcinoma, ovarian cancer, endometrial cancer, colon cancer, vaginal cancer, skin cancer, and leukemia. The median follow-up period was 51.5 months. Two and four patients showed local recurrence and distant metastasis, respectively. Two patients died of leukemia and pancreatic cancer 3 and 23 months after diagnosis, respectively.
Conclusion
This study provides information on different characteristics of patients with LFS, including types of mutation, types of cancer, and prognostic outcomes. For more appropriate management of these patients, proper genetic screening and multidisciplinary discussion are required.

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Consensus Statement: Recommendations on Actionable Biomarker Testing for Thyroid Cancer Management
Ozgur Mete, Andrée Boucher, Kasmintan A. Schrader, Omar Abdel-Rahman, Houda Bahig, Cheryl Ho, Olfat Kamel Hasan, Bernard Lemieux, Eric Winquist, Ralph Wong, Jonn Wu, Nicole Chau, Shereen Ezzat
Endocrine Pathology.2024; 35(4): 293. CrossRef

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General

Establishment of Patient-Derived Organoids Using Ascitic or Pleural Fluid from Cancer Patients: Wonyoung Choi, Yun-Hee Kim, Sang Myung Woo, Yebeen Yu, Mi Rim Lee, Woo Jin Lee, Jung Won Chun, Sung Hoon Sim, Heejung Chae, Hyoeun Shim, Keun Seok Lee, Sun-Young Kong; Cancer Res Treat. 2023;55(4):1077-1086. Published online June 12, 2023; DOI: https://doi.org/10.4143/crt.2022.1630

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Purpose
Patient-derived tumor cells can be a powerful resource for studying pathophysiological mechanisms and developing robust strategies for precision medicine. However, establishing organoids from patient-derived cells is challenging because of limited access to tissue specimens. Therefore, we aimed to establish organoids from malignant ascites and pleural effusions.
Materials and Methods
Ascitic or pleural fluid from pancreatic, gastric, and breast cancer patients was collected and concentrated to culture tumor cells ex vivo. Organoids were considered to be successfully cultured when maintained for five or more passages. Immunohistochemical staining was performed to compare the molecular features, and drug sensitivity was assayed to analyze the clinical responses of original patients.
Results
We collected 70 fluid samples from 58 patients (pancreatic cancer, n=39; gastric cancer, n=21; and breast cancer, n=10). The overall success rate was 40%; however, it differed with types of malignancy, with pancreatic, gastric, and breast cancers showing 48.7%, 33.3%, and 20%, respectively. Cytopathological results significantly differed between successful and failed cases (p=0.014). Immunohistochemical staining of breast cancer organoids showed molecular features identical to those of tumor tissues. In drug sensitivity assays, pancreatic cancer organoids recapitulated the clinical responses of the original patients.
Conclusion
Tumor organoids established from malignant ascites or pleural effusion of pancreatic, gastric, and breast cancers reflect the molecular characteristics and drug sensitivity profiles. Our organoid platform could be used as a testbed for patients with pleural and peritoneal metastases to guide precision oncology and drug discovery.

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The use of patient-derived xenografts and patient-derived organoids in the search for new therapeutic regimens for pancreatic carcinoma. A review
Emin Gayibov, Tomáš Sychra, Alžběta Spálenková, Pavel Souček, Martin Oliverius
Biomedicine & Pharmacotherapy.2025; 182: 117750. CrossRef
PRMT1 promotes pancreatic cancer development and resistance to chemotherapy
Bomin Ku, David Eisenbarth, Seonguk Baek, Tae-Keun Jeong, Ju-Gyeong Kang, Daehee Hwang, Myung-Giun Noh, Chan Choi, Sungwoo Choi, Taejun Seol, Hail Kim, Yun-Hee Kim, Sang Myung Woo, Sun-Young Kong, Dae-Sik Lim
Cell Reports Medicine.2024; 5(3): 101461. CrossRef
Establishment and Advancement of Pancreatic Organoids
Dong Hyeon Lee
Keimyung Medical Journal.2024; 43(1): 3. CrossRef
Organoid as a promising tool for primary liver cancer research: a comprehensive review
Xuekai Hu, Jiayun Wei, Pinyan Liu, Qiuxia Zheng, Yue Zhang, Qichen Zhang, Jia Yao, Jingman Ni
Cell & Bioscience.2024;[Epub] CrossRef
The use of organoids in creating immune microenvironments and treating gynecological tumors
Ling-Feng Zhou, Hui-Yan Liao, Yang Han, Yang Zhao
Journal of Translational Medicine.2024;[Epub] CrossRef
The pros and cons of mechanical dissociation and enzymatic digestion in patient-derived organoid cultures for solid tumor
Jing Ren, Mengli Liu, Mingjie Rong, Xuan Zhang, Gang Wang, Yihan Liu, Haijun Li, Shichao Duan
Cell Organoid.2024;[Epub] CrossRef
Organoid: Bridging the gap between basic research and clinical practice
Guihu Weng, Jinxin Tao, Yueze Liu, Jiangdong Qiu, Dan Su, Ruobing Wang, Wenhao Luo, Taiping Zhang
Cancer Letters.2023; 572: 216353. CrossRef

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Gastrointestinal cancer

Prevalence and Risk Factors of Germline Pathogenic Variants in Pancreatic Ductal Adenocarcinoma: Kum Hei Ryu, Sunhwa Park, Jung Won Chun, Eunhae Cho, Jongmun Choi, Dong-Eun Lee, Hyoeun Shim, Yun-Hee Kim, Sung-Sik Han, Sang-Jae Park, Sang Myung Woo, Sun-Young Kong; Cancer Res Treat. 2023;55(4):1303-1312. Published online April 3, 2023; DOI: https://doi.org/10.4143/crt.2023.291

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Purpose
The genetic attribution for pancreatic ductal adenocarcinoma (PDAC) has been reported as 5%-10%. However, the incidence of germline pathogenic variants (PVs) in Korean PDAC patients has not been thoroughly investigated. Therefore, we studied to identify the risk factors and prevalence of PV for future treatment strategies in PDAC.
Materials and Methods
Total of 300 (155 male) patients with a median age of 65 years (range, 33 to 90 years) were enrolled in National Cancer Center in Korea. Cancer predisposition genes, clinicopathologic characteristics, and family history of cancer were analyzed.
Results
PVs were detected in 20 patients (6.7%, median age 65) in ATM (n=7, 31.8%), BRCA1 (n=3, 13.6%), BRCA2 (n=3), and RAD51D (n=3). Each one patient showed TP53, PALB2, PMS2, RAD50, MSH3, and SPINK1 PV. Among them, two likely PVs were in ATM and RAD51D, respectively. Family history of various types of cancer including pancreatic cancer (n=4) were found in 12 patients. Three patients with ATM PVs and a patient with three germline PVs (BRCA2, MSH3, and RAD51D) had first-degree relatives with pancreatic cancer. Familial pancreatic cancer history and PVs detection had a significant association (4/20, 20% vs. 16/264, 5.7%; p=0.035).
Conclusion
Our study demonstrated that germline PVs in ATM, BRCA1, BRCA2, and RAD51D are most frequent in Korean PDAC patients and it is comparable to those of different ethnic groups. Although this study did not show guidelines for germline predisposition gene testing in patients with PDAC in Korea, it would be emphasized the need for germline testing for all PDAC patients.

Citations

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MLH1 Inhibits Metastatic Potential of Pancreatic Ductal Adenocarcinoma via Downregulation of GPRC5C
Wen-Jing Liu, Jun Lu, Wei-Xun Zhou, Jian-Zhou Liu, Li Zhou
Laboratory Investigation.2024; 104(9): 102107. CrossRef
Clinical Significance of PALB2 Pathogenic Germline Variant
Min-Chae Kang, R.N., Jong Eun Park, Mi-Ae Jang, Dongju Won, Boyoung Park, Seeyoun Lee, Dong Ock Lee, Kum Hei Ryu, Yoon-Jung Chang, Sun-Young Kong
Laboratory Medicine Online.2024; 14(4): 311. 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
Cancers.2024; 16(19): 3318. CrossRef
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review
Antonino Pantaleo, Giovanna Forte, Candida Fasano, Martina Lepore Signorile, Paola Sanese, Katia De Marco, Elisabetta Di Nicola, Marialaura Latrofa, Valentina Grossi, Vittoria Disciglio, Cristiano Simone
Cancers.2023; 16(1): 56. CrossRef

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Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test: Hee-Chul Shin, Han-Byoel Lee, Tae-Kyung Yoo, Eun-Shin Lee, Ryong Nam Kim, Boyoung Park, Kyong-Ah Yoon, Charny Park, Eun Sook Lee, Hyeong-Gon Moon, Dong-Young Noh, Sun-Young Kong, Wonshik Han; Cancer Res Treat. 2020;52(3):697-713. Published online February 4, 2020; DOI: https://doi.org/10.4143/crt.2019.559

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Purpose
Hereditary cancer syndrome means that inherited genetic mutations can increase a person's risk of developing cancer. We assessed the frequency of germline mutations using an nextgeneration sequencing (NGS)–based multiple-gene panel containing 64 cancer-predisposing genes in Korean breast cancer patients with clinical features of hereditary breast and ovarian cancer syndrome (HBOC).
Materials and Methods
A total of 64 genes associated with hereditary cancer syndrome were selected for development of an NGS-based multi-gene panel. Targeted sequencing using the multi-gene panel was performed to identify germline mutations in 496 breast cancer patients with clinical features of HBOC who underwent breast cancer surgery between January 2002 and December 2017.
Results
Of 496 patients, 95 patients (19.2%) were found to have 48 deleterious germline mutations in 16 cancer susceptibility genes. The deleterious mutations were found in 39 of 250 patients (15.6%) who had breast cancer and another primary cancer, 38 of 169 patients (22.5%) who had a family history of breast cancer (≥ 2 relatives), 16 of 57 patients (28.1%) who had bilateral breast cancer, and 29 of 84 patients (34.5%) who were diagnosed with breast cancer at younger than 40 years of age. Of the 95 patients with deleterious mutations, 60 patients (63.2%) had BRCA1/2 mutations and 38 patients (40.0%) had non-BRCA1/2 mutations. We detected two novel deleterious mutations in BRCA2 and MLH1.
Conclusion
NGS-based multiple-gene panel testing improved the detection rates of deleterious mutations and provided a cost-effective cancer risk assessment.

Citations

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Next-Generation Sequencing in Breast Cancer Patients: Real-World Data for Precision Medicine
Hyunwoo Lee, Yoon Ah Cho, Deok Geun Kim, Eun Yoon Cho
Cancer Research and Treatment.2024; 56(1): 149. CrossRef
Identification of pathogenic germline variants in a large Chinese lung cancer cohort by clinical sequencing
Zhe Yu, Zirui Zhang, Jun Liu, Xiaoying Wu, Xiaojun Fan, Jiaohui Pang, Hua Bao, Jiani Yin, Xue Wu, Yang Shao, Zhengcheng Liu, Fang Liu
Molecular Oncology.2024; 18(5): 1301. CrossRef
Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand
Chalermkiat Kansuttiviwat, Pongtawat Lertwilaiwittaya, Ekkapong Roothumnong, Panee Nakthong, Peerawat Dungort, Chutima Meesamarnpong, Warisara Tansa-Nga, Khontawan Pongsuktavorn, Supakit Wiboonthanasarn, Warunya Tititumjariya, Nannipa Phuphuripan, Chittap
npj Genomic Medicine.2024;[Epub] CrossRef
Assessment of genome mutation analysis for tumor-informed detection of circulating tumor DNA in patients with breast cancer
Mugip Rahaman Abdul Wahab, Thirunavukkarasu Palaniyandi, Swarnakala Thamada, Sandhiya Viswanathan, Gomathy Baskar, Hemapreethi Surendran, P Baraneedharan, J Kannan, Maddaly Ravi, Suba Rajinikanth, Mohamed A. El-Tayeb, Shaban Syed
Clinica Chimica Acta.2024; 561: 119818. CrossRef
Towards targeting the breast cancer immune microenvironment
Michael A. Harris, Peter Savas, Balaji Virassamy, Megan M. R. O’Malley, Jasmine Kay, Scott N. Mueller, Laura K. Mackay, Roberto Salgado, Sherene Loi
Nature Reviews Cancer.2024; 24(8): 554. CrossRef
Genetic Testing Among Breast Cancer Patients in the Eastern Region of Saudi Arabia: Single-Center Experience
Ghadeer Al Ghareeb, Zainab Al Nass, Salma Abu-Grain, Alia Alnaji, Hani Almohanna, Hadi Al Shaikh Nasser, Saad Al Shahrani
Journal of Epidemiology and Global Health.2024; 14(3): 1351. CrossRef
The Genomic and Biologic Landscapes of Breast Cancer and Racial Differences
Sapthala P Loku Galappaththi, Kelly R. Smith, Enas S. Alsatari, Rachel Hunter, Donna L. Dyess, Elba A. Turbat-Herrera, Santanu Dasgupta
International Journal of Molecular Sciences.2024; 25(23): 13165. CrossRef
Clinical usefulness of NGS multi-gene panel testing in hereditary cancer analysis
Federico Anaclerio, Lucrezia Pilenzi, Anastasia Dell’Elice, Rossella Ferrante, Simona Grossi, Luca Maria Ferlito, Camilla Marinelli, Simona Gildetti, Giuseppe Calabrese, Liborio Stuppia, Ivana Antonucci
Frontiers in Genetics.2023;[Epub] CrossRef
Triple-negative breast cancer: epidemiology, molecular mechanisms, and modern vaccine-based treatment strategies
Asad Mustafa Karim, Jeong Eun Kwon, Tanveer Ali, Jinsoo Jang, Irfan Ullah, Yeong-Geun Lee, Dae Won Park, Juha Park, Jin Woo Jeang, Se Chan Kang
Biochemical Pharmacology.2023; 212: 115545. CrossRef
Klinische Anwendungsbeispiele einer Next-Generation-Sequencing-basierten Multi-Genpanel-Analyse
Dietmar Enko, Erich Schaflinger, Daniel J. Müller
DMW - Deutsche Medizinische Wochenschrift.2023; 148(11): 695. CrossRef
A study of clinical and molecular characteristics in bilateral primary breast cancer
Bin Li, Weiqi Xu, Jianing Cao, Duancheng Guo, Zhonghua Tao, Juan Jin, Xichun Hu
Cancer Medicine.2023; 12(15): 15881. CrossRef
Klinische Anwendungsbeispiele einer Next-Generation-Sequencing-basierten Multi-Genpanel-Analyse
Dietmar Enko, Erich Schaflinger, Daniel J. Müller
TumorDiagnostik & Therapie.2023; 44(06): 401. CrossRef
Frequency of germline pathogenic variants in breast cancer predisposition genes among young Turkish breast cancer patients
Aysun Dauti Isiklar, Lamiya Aliyeva, Ahmet Yesilyurt, Aykut Soyder, Gul Basaran
Breast Cancer Research and Treatment.2023; 202(2): 297. CrossRef
Investigation of germline variants in Bahraini women with breast cancer using next-generation sequencing based-multigene panel
Ghada Al-Kafaji, Ghufran Jassim, Amani AlHajeri, Amna Mohamed Tayeb Alawadhi, Mariam Fida, Ibrahim Sahin, Faisal Alali, Elias Fadel, Amy McCart Reed
PLOS ONE.2023; 18(9): e0291015. CrossRef
Low prevalence of germline TP53 and PALB2 mutations in unselected cohort of breast cancer patients from Brunei Darussalam
Siti Nur Idayu Matusin, Zen Huat Lu, Mas Rina Wati Haji Abdul Hamid
F1000Research.2023; 12: 1537. CrossRef
Should all patients undergoing genetic testing for hereditary breast cancer syndromes be offered a multigene panel?
Erica L. Silver, Mariana Niell-Swiller
Current Opinion in Obstetrics & Gynecology.2022; 34(1): 36. CrossRef
The emerging roles of NGS in clinical oncology and personalized medicine
Bashdar Mahmud Hussen, Sara Tharwat Abdullah, Abbas Salihi, Dana Khdr Sabir, Karzan R. Sidiq, Mohammed Fatih Rasul, Hazha Jamal Hidayat, Soudeh Ghafouri-Fard, Mohammad Taheri, Elena Jamali
Pathology - Research and Practice.2022; 230: 153760. CrossRef
Increased incidence of pathogenic variants in ATM in the context of testing for breast and ovarian cancer predisposition
P. Macquere, S. Orazio, F. Bonnet, N. Jones, V. Bubien, J. Chiron, D. Lafon, E. Barouk-Simonet, J. Tinat, L. Venat-Bouvet, P. Gesta, M. Longy, N. Sevenet
Journal of Human Genetics.2022; 67(6): 339. CrossRef
Novel Insights From the Germline Landscape of Breast Cancer in Brazil
Daniel Barbalho, Renata Sandoval, Erika Santos, Janina Pisani, Carla Quirino, Bernardo Garicochea, Benedito Rossi, Maria Isabel Achatz
Frontiers in Oncology.2022;[Epub] CrossRef
Evaluation of a Four-Gene Panel for Hereditary Cancer Risk Assessment
Angela Secondino, Flavio Starnone, Iolanda Veneruso, Maria Di Tella, Serena Conato, Carmine De Angelis, Sabino De Placido, Valeria D’Argenio
Genes.2022; 13(4): 682. CrossRef
Multi-gene panel testing increases germline predisposing mutations’ detection in a cohort of breast/ovarian cancer patients from Southern Italy
Marcella Nunziato, Federica Di Maggio, Matilde Pensabene, Maria Valeria Esposito, Flavio Starnone, Carmine De Angelis, Alessandra Calabrese, Massimiliano D’Aiuto, Gerardo Botti, Sabino De Placido, Valeria D’Argenio, Francesco Salvatore
Frontiers in Medicine.2022;[Epub] CrossRef
Targeted Sequencing of Germline Breast Cancer Susceptibility Genes for Discovering Pathogenic/Likely Pathogenic Variants in the Jakarta Population
Sonar Soni Panigoro, Rafika Indah Paramita, Kristina Maria Siswiandari, Fadilah Fadilah
Diagnostics.2022; 12(9): 2241. CrossRef
Frequency of Pathogenic Germline Mutations in Early and Late Onset Familial Breast Cancer Patients Using Multi-Gene Panel Sequencing: An Egyptian Study
Auhood Nassar, Abdel-Rahman N. Zekri, Mahmoud M. Kamel, Mostafa H. Elberry, Mai M. Lotfy, Mohamed G. Seadawy, Zeinab K. Hassan, Hany K. Soliman, Ahmed M. Lymona, Amira Salah El-Din Youssef
Genes.2022; 14(1): 106. CrossRef
Germline molecular data in hereditary breast cancer in Brazil: Lessons from a large single-center analysis
Renata Lazari Sandoval, Ana Carolina Rathsam Leite, Daniel Meirelles Barbalho, Daniele Xavier Assad, Romualdo Barroso, Natalia Polidorio, Carlos Henrique dos Anjos, Andréa Discaciati de Miranda, Ana Carolina Salles de Mendonça Ferreira, Gustavo dos Santos
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Molecular Diagnosis of Neurofibromatosis by Multigene Panel Testing
Zeng-Yun-Ou Zhang, Yuan-Yuan Wu, Xin-ying Cai, Wen-Liang Fang, Feng-Li Xiao
Frontiers in Genetics.2021;[Epub] CrossRef
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach
Pratibha Bhai, Michael A. Levy, Kathleen Rooney, Deanna Alexis Carere, Jack Reilly, Jennifer Kerkhof, Michael Volodarsky, Alan Stuart, Mike Kadour, Karen Panabaker, Laila C. Schenkel, Hanxin Lin, Peter Ainsworth, Bekim Sadikovic
Frontiers in Genetics.2021;[Epub] CrossRef
Impact of deleterious variants in other genes beyond BRCA1/2 detected in breast/ovarian and pancreatic cancer patients by NGS-based multi-gene panel testing: looking over the hedge
M. Bono, D. Fanale, L. Incorvaia, D. Cancelliere, A. Fiorino, V. Calò, A. Dimino, C. Filorizzo, L.R. Corsini, C. Brando, G. Madonia, A. Cucinella, R. Scalia, N. Barraco, F. Guadagni, E. Pedone, G. Badalamenti, A. Russo, V. Bazan
ESMO Open.2021; 6(4): 100235. CrossRef
Summary of BARD1 Mutations and Precise Estimation of Breast and Ovarian Cancer Risks Associated with the Mutations
Malwina Suszynska, Piotr Kozlowski
Genes.2020; 11(7): 798. CrossRef
Detection of Germline Mutations in a Cohort of 139 Patients with Bilateral Breast Cancer by Multi-Gene Panel Testing: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2
Daniele Fanale, Lorena Incorvaia, Clarissa Filorizzo, Marco Bono, Alessia Fiorino, Valentina Calò, Chiara Brando, Lidia Rita Corsini, Nadia Barraco, Giuseppe Badalamenti, Antonio Russo, Viviana Bazan
Cancers.2020; 12(9): 2415. CrossRef

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Outcomes of Pregnancy after Breast Cancer in Korean Women: A Large Cohort Study: Moo Hyun Lee, Young Ae Kim, Jin Hyuk Hong, So-Youn Jung, Sunmi Lee, Sun-Young Kong, Boyoung Park, Eun Sook Lee; Cancer Res Treat. 2020;52(2):426-437. Published online September 3, 2019; DOI: https://doi.org/10.4143/crt.2018.382

Abstract PDF Supplementary Material PubReader ePub

Purpose
The purpose of this study was to determine the rate and outcomes of pregnancies subsequent to breast cancer in Korea, and the effect of such pregnancies on the prognosis of women who survived breast cancer and subsequently conceived. Materials and Methods We followed a total of 31,761 Korean women 45 years of age or younger who were treated for primary breast cancer from 2002 to 2010. We also included follow-up surveys that were conducted through December 2011. We identified recurrence and mortality from breast cancer using data linked to the Korea National Health Insurance database. We used propensity score matching of the study cohort to analyze the risks of recurrence and mortality from breast cancer depending on pregnancy.
Results
Within our sample, 992 women (3.1%) became pregnant after receiving treatment for breast cancer. Of those, 622 (67.5%) successfully delivered; the remaining 370 (32.5%) failed to deliver. After propensity score matching, we found that the women who became pregnant after breast cancer did not have a different risk of recurrence (hazard ratio [HR], 0.503; 95% confidence interval [CI], 0.434 to 0.584) and death (HR, 0.520; 95% CI, 0.397 to 0.681), compared with those who did not conceive after breast cancer treatment. Conclusion Our study is the first to report outcomes for Korean women who survived breast cancer and subsequently conceived. Women who survived breast cancer and subsequently became pregnant did not show a poorer survival outcome, compared with those who did not become pregnant.

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Conception and pregnancy among women with a live birth after breast cancer treatment: A survey study of young breast cancer survivors
Kimia Sorouri, Tal Sella, Shoshana M. Rosenberg, Maggie Loucks, Gregory Kirkner, Craig Snow, Kathryn J. Ruddy, Shari I. Gelber, Rulla M. Tamimi, Jeffrey M. Peppercorn, Lidia Schapira, Virginia F. Borges, Steven E. Come, Ellen Warner, Ann H. Partridge
Cancer.2024; 130(4): 517. CrossRef
Safe and successful pregnancy following breast cancer treatment in young patients 35 years old or under without invasive fertility preservation: a retrospective study
Ji Hye Kim, Yong Yeup Kim, Jai Hyun Chung, Woo Young Kim, Jae Bok Lee, Sang Uk Woo
Annals of Surgical Treatment and Research.2024; 106(4): 189. CrossRef
Female reproductive health in pediatric, adolescent, and young adult cancer survivors
Holly R. Hoefgen, Janie Benoit, Serena Chan, Yasmin Jayasinghe, Maryam Lustberg, Victoria Pohl, Amanda Saraf, Deb Schmidt, Leslie Coker Appiah
Pediatric Blood & Cancer.2023;[Epub] CrossRef
Pregnancy rate, maternal and neonatal outcomes among breast cancer survivors: A systematic review
Marzieh Azizi, Elham Ebrahimi, Zahra Behboodi Moghadam, Zohreh Shahhosseini, Maryam Modarres
Nursing Open.2023; 10(10): 6690. CrossRef
Breast Cancer in Pregnancy
Natalie Levey, Iris Krishna
Obstetrics and Gynecology Clinics of North America.2022; 49(1): 181. CrossRef
Prognosis of pregnancy after breast cancer diagnosis according to the type of treatment: A population-based study in Korea by the SMARTSHIP group
Soo Youn Bae, Jihyoun Lee, Ji Sung Lee, Jae Sun Yoon, Ku Sang Kim, Yoo Seok Kim, Zisun Kim, Jun Won Min, Eun-Jung Shim, Ilkyun Lee, Min Hyuk Lee, Sungmin Park
The Breast.2022; 63: 46. CrossRef
Update on Pregnancy Following Breast Cancer Diagnosis and Treatment
Marta Perachino, Francesca Poggio, Luca Arecco, Eva Blondeaux, Stefano Spinaci, Camilla Marrocco, Alessia Levaggi, Matteo Lambertini
The Cancer Journal.2022; 28(3): 176. CrossRef
Survival outcomes following pregnancy or assisted reproductive technologies after breast cancer: A population‐based study
J. Alejandro Rauh‐Hain, Jose Zubizarreta, Roni Nitecki, Alexander Melamed, Shuangshuang Fu, Kirsten Jorgensen, Paula C. Brady, Valerie L. Baker, Mariana Chavez‐MacGregor, Sharon H. Giordano, Nancy L. Keating
Cancer.2022; 128(17): 3243. CrossRef
Survival after breast cancer in women with a subsequent live birth: Influence of age at diagnosis and interval to subsequent pregnancy
Richard A. Anderson, Matteo Lambertini, Peter S. Hall, W. Hamish Wallace, David S. Morrison, Tom W. Kelsey
European Journal of Cancer.2022; 173: 113. CrossRef
Pregnancy After Breast Cancer: A Systematic Review and Meta-Analysis
Matteo Lambertini, Eva Blondeaux, Marco Bruzzone, Marta Perachino, Richard A. Anderson, Evandro de Azambuja, Philip D. Poorvu, Hee Jeong Kim, Cynthia Villarreal-Garza, Barbara Pistilli, Ines Vaz-Luis, Cristina Saura, Kathryn J. Ruddy, Maria Alice Franzoi,
Journal of Clinical Oncology.2021; 39(29): 3293. CrossRef

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Different Patterns of Risk Reducing Decisions in Affected or Unaffected BRCA Pathogenic Variant Carriers: Eun-Gyeong Lee, Hyok Jo Kang, Myong Cheol Lim, Boyoung Park, Soo Jin Park, So-Youn Jung, Seeyoun Lee, Han-Sung Kang, Sang-Yoon Park, Boram Park, Jungnam Joo, Jai Hong Han, Sun-Young Kong, Eun Sook Lee; Cancer Res Treat. 2019;51(1):280-288. Published online May 4, 2018; DOI: https://doi.org/10.4143/crt.2018.079

Abstract PDF PubReader ePub

Purpose
The purpose of this study was to investigate decision patterns to reduce the risks of BRCArelated breast and gynecologic cancers in carriers of BRCA pathogenic variants. We found a change in risk-reducing (RR) management patterns after December 2012, when the National Health Insurance System (NHIS) of Korea began to pay for BRCA testing and riskreducing salpingo-oophorectomy (RRSO) in pathogenic-variant carriers.
Materials and Methods
The study group consisted of 992 patients, including 705 with breast cancer (BC), 23 with ovarian cancer (OC), 10 with both, and 254 relatives of high-risk patients who underwent BRCA testing at the National Cancer Center of Korea from January 2008 to December 2016.We analyzed patterns of and factors in RR management.
Results
Of the 992 patients, 220 (22.2%) were carriers of BRCA pathogenic variants. About 92.3% (203/220) had a family history of BC and/or OC,which significantly differed between BRCA1 and BRCA2 carriers (p < 0.001). All 41 male carriers chose surveillance. Of the 179 female carriers, 59 of the 83 carriers (71.1%) with BC and the 39 of 79 unaffected carriers (49.4%) underwent RR management. None of the carriers affected with OC underwent RR management. Of the management types, RRSO had the highest rate (42.5%) of patient choice. The rate of RR surgery was significantly higher after 2013 than before 2013 (46.3% [74/160] vs. 31.6% [6/19], p < 0.001).
Conclusion
RRSO was the preferred management for carriers of BRCA pathogenic variants. The most important factors in treatment choice were NHIS reimbursement and/or the severity of illness.

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A Scoping Review of Primary Breast Cancer Risk Reduction Strategies in East and Southeast Asia
Filipa Alpeza, Christine Kim Yan Loo, Qingyuan Zhuang, Mikael Hartman, Serene Si Ning Goh, Jingmei Li
Cancers.2025; 17(2): 168. CrossRef
Risk-reducing decisions regarding germlineBRCApathogenic variant: focusing on the timing of genetic testing and RRSO
Akiko Abe, Hidetaka Nomura, Atsushi Fusegi, Mayu Yunokawa, Arisa Ueki, Eri Habano, Hiromi Arakawa, Keika Kaneko, Yuko Minoura, Hitoshi Inari, Takayuki Ueno, Hiroyuki Kanao
Journal of Medical Genetics.2024; 61(4): 392. CrossRef
BRCA Mutation Patients: Are There Other Predisposing Factors for Ovarian Cancer Occurrence? A Multicenter Retrospective Study
Vera Loizzi, Michele Mongelli, Francesca Arezzo, Isabella Romagno, Gerardo Cazzato, Ondina Popescu, Francesco Legge, Paolo Trerotoli, Erica Silvestris, Anila Kardhashi, Gennaro Cormio
Gynecologic and Obstetric Investigation.2024; 89(2): 87. CrossRef
Implementation of BRCA Test among Young Breast Cancer Patients in South Korea: A Nationwide Cohort Study
Yung-Huyn Hwang, Tae-Kyung Yoo, Sae Byul Lee, Jisun Kim, Beom Seok Ko, Hee Jeong Kim, Jong Won Lee, Byung Ho Son, Il Yong Chung
Cancer Research and Treatment.2024; 56(3): 802. CrossRef
Pattern Anlysis of Risk-Reducing Strategies in Unaffected Korean BRCA1/2 Mutation Carriers
Dabin Kim, Jai Min Ryu, Sang-Ah Han, Zisun Kim, Sung-Won Kim
Current Oncology.2024; 31(11): 6767. CrossRef
Impact of graphical display on the intention to undergo risk-reducing salpingo-oophorectomy and mastectomy in individuals positive for BRCA pathogenic variant
Yoon-Jung Choi, Younju Park, Boyoung Park, Heejung Chae, So-Youn Jung, Kum Hei Ryu, Myong Cheol Lim, Soo Jin Park, Yoon Jung Chang, Sun-Young Kong
Scientific Reports.2024;[Epub] CrossRef
Impact of the coverage of risk-reducing salpingo-oophorectomy by the national insurance system for women with BRCA pathogenic variants in Japan
Hidetaka Nomura, Akiko Abe, Atsushi Fusegi, Teruyuki Yoshimitsu, Satoki Misaka, Atsushi Murakami, Tsuyoshi Matsumoto, Shiho Tsumura, Motoko Kanno, Yoichi Aoki, Sachiho Netsu, Makiko Omi, Terumi Tanigawa, Sanshiro Okamoto, Kohei Omatsu, Mayu Yunokawa, Hiro
Scientific Reports.2023;[Epub] CrossRef
Characteristics of second primary breast cancer after ovarian cancer: a Korea central cancer registry retrospective study
Eun-Gyeong Lee, Jiwon Lim, Hyeong In Ha, Myong Cheol Lim, Yoon Jung Chang, Young-Joo Won, So-Youn Jung
Frontiers in Oncology.2023;[Epub] CrossRef
Differences in Willingness to Undergo BRCA1/2 Testing and Risk Reducing Surgery among the General Public, Cancer Patients, and Healthcare Professionals: A Large Population-Based Survey
Yoon Jung Chang, Seungyeon Cho, Jungnam Joo, Kum Hei Ryu, Sangwon Lee, Juhee Cho, Myong Cheol Lim, So-Youn Jung, Jai Hong Han, Eun Sook Lee, Sun-Young Kong
Journal of Personalized Medicine.2022; 12(5): 818. CrossRef
Management of patients with BRCA mutation from the point of view of a breast surgeon
M.L. Riis
Annals of Medicine and Surgery.2021; 65: 102311. CrossRef
Disparities between Uptake of Germline BRCA1/2 Gene Tests and Implementation of Post-test Management Strategies in Epithelial Ovarian, Fallopian Tube, or Primary Peritoneal Cancer Patients
Young Min Hur, Jaehee Mun, Mi-Kyung Kim, Maria Lee, Yun Hwan Kim, Seung-Cheol Kim
Journal of Korean Medical Science.2021;[Epub] CrossRef
Clinical significance of gene polymorphisms for hereditary predisposition to breast and ovarian cancer (review of literature)
D. I. Vodolazhsky, A. V. Mayakovskaya, A. V. Kubyshkin, K. A. Aliev, I. I. Fomochkina
Russian Clinical Laboratory Diagnostics.2021; 66(12): 760. CrossRef
Trends in Risk-Reducing Mastectomy and Risk-Reducing Salpingo-Oophorectomy in Korean Carriers of the BRCA1/2 Mutation
Sung Mi Jung, Jai Min Ryu, Hyung Seok Park, Ji Soo Park, Eunyoung Kang, Seeyoun Lee, Han-Byoel Lee, Hyun Jo Youn, Tae-Kyung Yoo, Jisun Kim, Jeong Eon Lee, Sang Ah Han, Dongwon Kim, Sung-Won Kim
Journal of Breast Cancer.2020; 23(6): 647. CrossRef

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Psychosocial Health of Disease-Free Breast Cancer Survivors Compared with Matched Non-cancer Controls: Boyoung Park, Moo Hyun Lee, Sun-Young Kong, Eun Sook Lee; Cancer Res Treat. 2019;51(1):178-186. Published online April 5, 2018; DOI: https://doi.org/10.4143/crt.2017.585

Abstract PDF PubReader ePub

Purpose
The present study investigated the psychosocial health of disease-free breast cancer survivors who receive health examinations compared to matched non-cancer controls in a community setting.
Materials and Methods
We used baseline data from the Health Examinee cohort, which is composed of subjects participating in health. The disease-free breast cancer survivors were defined as those who were ≥ 2 years from initial diagnosis of breast cancer who had completed treatment. Females without a history of cancer were randomly selected at 1:4 ratio by 5-year age groups, education, and household income as a comparison group. We analyzed results from the Psychosocial Well-being Index-Short Form (PWI-SF) as a psychosocial health measurement.
Results
A total of 347 survivors of breast cancer and 1,388 matched controls were included. Total scores on the PWI-SF were lower in breast cancer survivors than matched non-cancer controls (p=0.006), suggesting a lower level of psychosocial stress in breast cancer survivors. In comparison to the control group, prevalence of drinking, smoking and obesity were lower, while exercising for ≥ 150 min/wk was higher in breast cancer survivors (p < 0.05). These findings suggest that breast cancer survivors have better health behaviors than their noncancer controls. After adjusting for other sociodemographic variables, breast cancer survivors were 36% less likely to be included in the stress group (odds ratio, 0.64; 95% confidence interval, 0.42 to 0.98).
Conclusion
The disease-free breast cancer survivors resuming daily life demonstrated better psychosocial health status compared to matched non-cancer controls.

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Effect of perceived injustice-targeted pain neuroscience education compared with biomedically focused education in breast cancer survivors: a study protocol for a multicentre randomised controlled trial (BCS-PI trial)
Eva Roose, Eva Huysmans, Laurence Leysen, Kenza Mostaqim, Paul Van Wilgen, David Beckwée, Marijke De Couck, Annick Timmermans, Rinske Bults, Jo Nijs, Astrid Lahousse
BMJ Open.2024; 14(1): e075779. CrossRef
Effects of a Single Session of Mindfulness and Compassion on Skin Temperature in Breast Cancer Survivors
David A. Rodríguez, Nadia Martínez, Li Erandi Tepepa Flores, Benjamín Domínguez, Patricia Cortés, Ana L. Chávez
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Gender Difference in the Impact of Total Energy Intake on the Association between Low Fiber Intake and Mental Health in Middle-Aged and Older Adults
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Psychological factors influencing healthcare utilization in breast cancer survivors with pain
Eva Roose, Wilfried Cools, Laurence Leysen, Paul Van Wilgen, David Beckwée, Annick Timmermans, Rinske Bults, Jo Nijs, Marian Vanhoeij, Christel Fontaine, Astrid Lahousse, Eva Huysmans
Pain Medicine.2024; 25(12): 768. CrossRef
Determinants of Psychosocial Distress in Breast Cancer Patients at a Safety Net Hospital
Jessica K. Liu, Amy H. Kaji, Katherine G. Roth, Danielle M. Hari, James J. Yeh, Christine Dauphine, Junko Ozao-Choy, Kathryn T. Chen
Clinical Breast Cancer.2022; 22(1): 43. CrossRef
Self-Concept and Psychosocial Well-Being among Korean Women with BRCA1/2 Gene Mutations
Kyunghwa Lee, Doo Ree Kim
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Psychosocial stress accompanied by an unhealthy eating behavior is associated with abdominal obesity in Korean adults: A community-based prospective cohort study
Minji Kim, Yangha Kim
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Effect of Psychosocial Distress on the Rate of Kidney Function Decline
Jae Young Kim, Young Su Joo, Jong Hyun Jhee, Seung Hyeok Han, Tae-Hyun Yoo, Shin-Wook Kang, Jung Tak Park
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Sebastian Weiße, Svenja Quaester, Jürgen Dunst
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Induction Chemotherapy with Gemcitabine and Cisplatin Followed by Simultaneous Integrated Boost–Intensity Modulated Radiotherapy with Concurrent Gemcitabine for Locally Advanced Unresectable Pancreatic Cancer: Results from a Feasibility Study: Sang Myung Woo, Min Kyeong Kim, Jungnam Joo, Kyong-Ah Yoon, Boram Park, Sang-Jae Park, Sung-Sik Han, Ju Hee Lee, Eun Kyung Hong, Yun-Hee Kim, Hae Moon, Sun-Young Kong, Tae Hyun Kim, Woo Jin Lee; Cancer Res Treat. 2017;49(4):1022-1032. Published online January 19, 2017; DOI: https://doi.org/10.4143/crt.2016.495

Abstract PDF Supplementary Material PubReader ePub

Purpose
This study assessed the feasibility and compliance of induction chemotherapy with gemcitabine and cisplatin followed by simultaneous integrated boost–intensity modulated radiotherapy (SIB-IMRT) with concurrent gemcitabine in patients with locally advanced unresectable pancreatic cancer.
Materials and Methods
In this trial, patients received induction chemotherapy consisting of gemcitabine (1,000 mg/m²) and cisplatin (25 mg/m2) on days 1, 8, and 15 of each treatment cycle. Patients were subsequently treated with gemcitabine (300 mg/m²/wk) during SIB-IMRT. The patients received total doses of 55 and 44 Gy in 22 fractions to planning target volume 1 and 2, respectively. As an ancillary study, digital polymerase chain reaction was performed to screen for the seven most common mutations in codons 12 and 13 of the KRAS oncogene of circulating cell free DNA (cfDNA).
Results
Forty-four patients were enrolled between 2012 and 2015. Of these, 33 (75%) completed the treatment. The most common toxicities during induction chemotherapy were grades 3 and 4 neutropenia (18.2%), grade 3 nausea (6.8%) and vomiting (6.8%). The most common toxicities during SIB-IMRT were grade 3 neutropenia (24.2%) and grade 3 anemia (12.1%). Ten patients (23%) underwent a curative resection after therapy. Median overall survival was significantly longer in patients who underwent curative resection (16.8 months vs. 11 months, p < 0.01). The median cfDNA concentration was significantly lower after treatment (108.5 ng/mL vs. 18.4 ng/mL, p < 0.001).
Conclusion
Induction chemotherapy with gemcitabine and cisplatin followed by concurrent SIB-IMRT was well tolerated and active.

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Executive Summary of the American Radium Society Appropriate Use Criteria for Neoadjuvant Therapy for Nonmetastatic Pancreatic Adenocarcinoma
Krishan R. Jethwa, Ed Kim, Jordan Berlin, Christopher J. Anker, Leila Tchelebi, Gerard Abood, Christopher L. Hallemeier, Salma Jabbour, Timothy Kennedy, Rachit Kumar, Percy Lee, Navesh Sharma, William Small, Vonetta Williams, Suzanne Russo
American Journal of Clinical Oncology.2024; 47(4): 185. CrossRef
Kinetics of plasma cell-free DNA as a prospective biomarker to predict the prognosis and radiotherapy effect of esophageal cancer
Y. Li, J. Wu, Y. Feng, D. Wang, H. Tao, J. Wen, F. Jiang, P. Qian, Y. Liu
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Circulating tumor DNA: a help to guide therapeutic strategy in patients with borderline and locally advanced pancreatic adenocarcinoma?
Olivier Caliez, Daniel Pietrasz, Feryel Ksontini, Solène Doat, Jean-Marc Simon, Jean-Christophe Vaillant, Valerie Taly, Pierre Laurent-Puig, Jean-Baptiste Bachet
Digestive and Liver Disease.2022; 54(10): 1428. CrossRef
Circulating Tumor DNA Detection by Digital-Droplet PCR in Pancreatic Ductal Adenocarcinoma: A Systematic Review
Marisol Huerta, Susana Roselló, Luis Sabater, Ana Ferrer, Noelia Tarazona, Desamparados Roda, Valentina Gambardella, Clara Alfaro-Cervelló, Marina Garcés-Albir, Andrés Cervantes, Maider Ibarrola-Villava
Cancers.2021; 13(5): 994. CrossRef
Clinical Utility of Liquid Biopsy-Based Actionable Mutations Detected via ddPCR
Irina Palacín-Aliana, Noemí García-Romero, Adrià Asensi-Puig, Josefa Carrión-Navarro, Víctor González-Rumayor, Ángel Ayuso-Sacido
Biomedicines.2021; 9(8): 906. CrossRef
A review on the efficacy and safety of iodine-125 seed implantation in unresectable pancreatic cancers
Sheng-Nan Jia, Fu-Xing Wen, Ting-Ting Gong, Xin Li, Hui-Jie Wang, Ya-Min Sun, Ze-Cheng Yang
International Journal of Radiation Biology.2020; 96(3): 383. CrossRef
Efficacy and feasibility of proton beam radiotherapy using the simultaneous integrated boost technique for locally advanced pancreatic cancer
Tae Hyun Kim, Woo Jin Lee, Sang Myung Woo, Eun Sang Oh, Sang Hee Youn, Hye Young Jang, Sung-Sik Han, Sang-Jae Park, Yang-Gun Suh, Sung Ho Moon, Sang Soo Kim, Dae Yong Kim
Scientific Reports.2020;[Epub] CrossRef
Comprehensive Cancer Panel Sequencing Defines Genetic Diversity and Changes in the Mutational Characteristics of Pancreatic Cancer Patients Receiving Neoadjuvant Treatment
Kyong-Ah Yoon, Sang Myung Woo, Yun-Hee Kim, Sun-Young Kong, Min Kyoung Lee, Sung-Sik Han, Tae Hyun Kim, Woo Jin Lee, Sang-Jae Park
Gut and Liver.2019; 13(6): 683. CrossRef
Plasma Cell-Free DNA as a Predictive Marker after Radiotherapy for Hepatocellular Carcinoma
Sangjoon Park, Eun Jung Lee, Chai Hong Rim, Jinsil Seong
Yonsei Medical Journal.2018; 59(4): 470. CrossRef
Effectiveness and Safety of Simultaneous Integrated Boost-Proton Beam Therapy for Localized Pancreatic Cancer
Tae Hyun Kim, Woo Jin Lee, Sang Myung Woo, Hyunjung Kim, Eun Sang Oh, Ju Hee Lee, Sung-Sik Han, Sang-Jae Park, Yang-Gun Suh, Sung Ho Moon, Sang Soo Kim, Dae Yong Kim
Technology in Cancer Research & Treatment.2018;[Epub] CrossRef

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Clinically Significant Unclassified Variants in BRCA1 and BRCA2 Genes among Korean Breast Cancer Patients: Kyong-Ah Yoon, Boyoung Park, Byung Il Lee, Moon Jung Yang, Sun-Young Kong, Eun Sook Lee; Cancer Res Treat. 2017;49(3):627-634. Published online September 13, 2016; DOI: https://doi.org/10.4143/crt.2016.292

Abstract PDF PubReader ePub

Purpose
Unclassified variants (UVs) of BRCA1 and BRCA2 genes are not defined as pathogenic for breast cancer, and their clinical significance currently remains undefined. Therefore, this study was conducted to identify potentially pathogenic UVs by comparing their prevalence between breast cancer patients and controls.
Materials and Methods
A total of 328 breast cancer patients underwent BRCA1/2 genetic screening at the National Cancer Center of Korea. Genetic variants of BRCA genes that were categorized as unclassified according to the Breast CancerInformation Core databasewere selected based on allelic frequency, after which candidate variants were genotyped in 421 healthy controls. We also examined family members of the study participants. Finally, the effects of amino acid substitutions on protein structure and function were predicted in silico.
Results
Genetic tests revealed 33 UVs in BRCA1 and 47 in BRCA2. Among 15 candidates genotyped in healthy controls, c.5339T>C in BRCA1 and c.6029T>G, c.7522G>A in BRCA2 were not detected. Moreover, the c.5339T>C variant in the BRCA1 gene was detected in four patients with a family history of breast cancer. This nonsynonymous variant (Leu1780Pro) in the BRCA1 C-terminal domain was predicted to have an effect on BRCA1 protein structure/function.
Conclusion
This study showed that comparison of genotype frequency between cases and controls could help identify UVs of BRCA genes that are potentially pathogenic. Moreover, ourfindings suggest that c.5339T>C in BRCA1 might be a pathogenic variant for patients and their families.

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Molecular Characterization of BRCA1 c.5339T>C Missense Mutation in DNA Damage Response of Triple-Negative Breast Cancer
Jeong Dong Lee, Won-Ji Ryu, Hyun Ju Han, Tae Yeong Kim, Min Hwan Kim, Joohyuk Sohn
Cancers.2022; 14(10): 2405. CrossRef
Analysis of BRCA1/2 variants of unknown significance in the prospective Korean Hereditary Breast Cancer study
Joo Heung Kim, Sunggyun Park, Hyung Seok Park, Ji Soo Park, Seung-Tae Lee, Sung-Won Kim, Jong Won Lee, Min Hyuk Lee, Sue K. Park, Woo-Chul Noh, Doo Ho Choi, Wonshik Han, Sung Hoo Jung
Scientific Reports.2021;[Epub] CrossRef
Clinicopathological Features of Patients with the BRCA1 c.5339T>C (p.Leu1780Pro) Variant
Hyung Seok Park, Jai Min Ryu, Ji Soo Park, Seock-Ah Im, So-Youn Jung, Eun-Kyu Kim, Woo-Chan Park, Jun Won Min, Jeeyeon Lee, Ji Young You, Jeong Eon Lee, Sung-Won Kim
Cancer Research and Treatment.2020; 52(3): 680. CrossRef
Identification of Recurrent Variants in BRCA1 and BRCA2 across Multiple Cancers in the Chinese Population
Yue Jiang, Ting Tian, Chengxiao Yu, Wen Zhou, Junzhe Yang, Yifeng Wang, Yang Wen, Jiaping Chen, Juncheng Dai, Guangfu Jin, Hongxia Ma, Hongbing Shen, Zhibin Hu, Yu-Chang Tyan
BioMed Research International.2020;[Epub] CrossRef
Reinterpretation of BRCA1 and BRCA2 variants of uncertain significance in patients with hereditary breast/ovarian cancer using the ACMG/AMP 2015 guidelines
Min-Kyung So, Tae-Dong Jeong, Woosung Lim, Byung-In Moon, Nam Sun Paik, Seung Cheol Kim, Jungwon Huh
Breast Cancer.2019; 26(4): 510. CrossRef
BRCA gene mutations: A population based review
Ratika Samtani, Deepti Saksena
Gene Reports.2019; 15: 100380. CrossRef
Unclassified Variants of BRCA1 and BRCA2 in Korean Patients With Ovarian Cancer
Min Chul Choi, Ja-Hyun Jang, Sang Geun Jung, Hyun Park, Won Duk Joo, Seung Hun Song, Chan Lee, Je Ho Lee
International Journal of Gynecological Cancer.2018; 28(2): 308. CrossRef
Differences in attitudes toward genetic testing among the public, patients, and health-care professionals in Korea
Heesang Eum, Mangyeong Lee, Junghee Yoon, Juhee Cho, Eun Sook Lee, Kui Son Choi, Sangwon Lee, So-Youn Jung, Myong Cheol Lim, Sun-Young Kong, Yoon Jung Chang
European Journal of Human Genetics.2018; 26(10): 1432. CrossRef
Reclassification of BRCA1 and BRCA2 variants of uncertain significance: a multifactorial analysis of multicentre prospective cohort
Jee-Soo Lee, Sohee Oh, Sue Kyung Park, Min-Hyuk Lee, Jong Won Lee, Sung-Won Kim, Byung Ho Son, Dong-Young Noh, Jeong Eon Lee, Hai-Lin Park, Man Jin Kim, Sung Im Cho, Young Kyung Lee, Sung Sup Park, Moon-Woo Seong
Journal of Medical Genetics.2018; 55(12): 794. CrossRef
Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from ‘unknown significance’ to ‘Likely pathogenic’ based on clinical evidence in Korea
Jai Min Ryu, Goeun Kang, Seok Jin Nam, Seok Won Kim, Jonghan Yu, Se Kyung Lee, Soo Youn Bae, Sungmin Park, Hyun-June Paik, Jong-Won Kim, Sung-Shin Park, Jeong Eon Lee, Sung-Won Kim
The Breast.2017; 33: 109. CrossRef

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Nucleotide Excision Repair Gene ERCC2 and ERCC5 Variants Increase Risk of Uterine Cervical Cancer: Jungnam Joo, Kyong-Ah Yoon, Tomonori Hayashi, Sun-Young Kong, Hye-Jin Shin, Boram Park, Young Min Kim, Sang-Hyun Hwang, Jeongseon Kim, Aesun Shin, Joo-Young Kim; Cancer Res Treat. 2016;48(2):708-714. Published online June 22, 2015; DOI: https://doi.org/10.4143/crt.2015.098

Abstract PDF Supplementary Material PubReader ePub

Purpose
Defects in the DNA damage repair process can cause genomic instability and play an important role in cervical carcinogenesis. The purpose of this study was to analyze the association of 29 candidate single nucleotide polymorphisms (SNPs) in genes in the DNA repair pathway, TP53, and TP53BP1 with the risk of cervical cancer.
Materials and Methods
Twenty-nine SNPs in four genes in the DNA repair pathway (ERCC2, ERCC5, NBS1, and XRCC1), TP53, and TP53BP1 were genotyped for 478 cervical cancer patients and 922 healthy control subjects, and their effects on cervical carcinogenesis were analyzed.
Results
The most significant association was found for rs17655 in ERCC5, with an age-adjusted p-value < 0.0001, for which a strong additive effect of the risk allele C was observed (odds ratio, 2.01 for CC to GG). On the other hand, another significant polymorphism rs454421 in ERCC2 showed a dominant effect (odds ratio, 1.68 for GA+AA to GG) with an age-adjusted p-value of 0.0009. The association of these polymorphisms remained significant regardless of the age of onset. The significant result for rs17655 was also consistent for subgroups of patients defined by histology and human papillomavirus (HPV) types. However, for rs454421, the association was observed only in patients with squamous cell carcinoma and non-HPV 18 type.
Conclusion
The results of this study show a novel association of cervical cancer and the genes involved in the nucleotide excision pathway in the Korean population.

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Feng Ye, Yuwen Xie, Mingdao Lin, Yang Liu, Yuan Fang, Keli Chen, Yaowei Zhang, Yi Ding
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Agneesh Pratim Das, Sandeep Saini, Shrishty Tyagi, Nisha Chaudhary, Subhash Mohan Agarwal
Reproductive Sciences.2023; 30(4): 1118. CrossRef
Genetic polymorphisms in DNA repair genes and their association with risk of cervical cancer: A systematic review and meta‐analysis
Xueting Shao, Xiaole Yang, Ying Liu, Qingxia Song, Xin Pan, Wansu Chen, Wei Jiang, Dan Xu, Yuanyuan Song, Renshou Chen
Journal of Obstetrics and Gynaecology Research.2022; 48(9): 2405. CrossRef
Association of nonsynonymous SNPs of nucleotide excision repair genes ERCC4 rs1800067 (G/A) and ERCC5 rs17655 (G/C) as predisposing risk factors for gallbladder cancer
Kumari Anjali, Tarun Kumar, Puneet Kumar, Gopeshwar Narayan, Sunita Singh
Digestive and Liver Disease.2022; 54(11): 1533. CrossRef
Rare germline variants in DNA repair-related genes are accountable for papillary thyroid cancer susceptibility
Catia Mio, Antonella Verrienti, Valeria Pecce, Marialuisa Sponziello, Giuseppe Damante
Endocrine.2021; 73(3): 648. CrossRef
A meta-analysis of XRCC1 single nucleotide polymorphism and susceptibility to gynecological malignancies
Xue Qin Zhang, Li Li
Medicine.2021; 100(50): e28030. CrossRef
The association of integration patterns of human papilloma virus and single nucleotide polymorphisms on immune- or DNA repair-related genes in cervical cancer patients
Jungnam Joo, Yosuke Omae, Yuki Hitomi, Boram Park, Hye-Jin Shin, Kyong-Ah Yoon, Hiromi Sawai, Makoto Tsuiji, Tomonori Hayashi, Sun-Young Kong, Katsushi Tokunaga, Joo-Young Kim
Scientific Reports.2019;[Epub] CrossRef
The Pivotal Role of DNA Repair in Infection Mediated-Inflammation and Cancer
Ayse Z. Sahan, Tapas K. Hazra, Soumita Das
Frontiers in Microbiology.2018;[Epub] CrossRef
Somatic mutation load and spectra: A record of DNA damage and repair in healthy human cells
Natalie Saini, Dmitry A. Gordenin
Environmental and Molecular Mutagenesis.2018; 59(8): 672. CrossRef

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Case Report

A Case of Locally Advanced Breast Cancer Complicated by Pulmonary Tumor Thrombotic Microangiopathy: Hak Jin Kim, Mi Hyang Kwak, Sun-Young Kong, Moon-Woo Seong, Han-Sung Kang, Keun Seok Lee, Jungsil Ro; Cancer Res Treat. 2012;44(4):267-270. Published online December 31, 2012; DOI: https://doi.org/10.4143/crt.2012.44.4.267

Abstract PDF PubReader ePub

Pulmonary tumor thrombotic microangiopathy (PTTM) is a rare, malignancy-related complication that causes marked pulmonary hypertension, right heart failure, and death. We report on a patient with locally advanced breast cancer whose course was complicated by fatal PTTM based on clinical and laboratory findings.

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Rohit H. Godbole, Rajan Saggar, Nader Kamangar
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Microangiopathie thrombotique tumorale pulmonaire
M. Merad, A. Alibay, S. Ammari, S. Antoun, A. Bouguerba, S. Ayed, F. Vincent
Revue des Maladies Respiratoires.2017; 34(10): 1045. CrossRef
Ante-mortem diagnosis of pulmonary tumour thrombotic microangiopathy in a patient with unrecognised extramammary Paget's disease
Aya Banno, Keijiro Chiba, Hiroko Kasai, Keiichi Nagami
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Pulmonary Tumor Thrombotic Microangiopathy Associated with Advanced Gastric Cancer Successfully Treated with Chemotherapy
Seung-Hyun Yoo, Kwonoh Park, Ji Yeon Hong, Ji Yeon Kim, Jang Won Park, Yong Won Park, Kyung-Hun Lee, Kyung-So Jeon
The Ewha Medical Journal.2014; 37(2): 146. CrossRef
A Case of Pulmonary Tumor Thrombotic Microangiopathy Diagnosed by Transbronchial Lung Biopsy and Treated with Chemotherapy and Long-Term Oxygen and Anticoagulation Therapies
Atsushi Kitamura, Naoki Nishimura, Torahiko Jinta, Rika Suda, Yasuhiko Yamano, Genta Ishikawa, Yutaka Tomishima, Tsuyoshi Hamaoka, Koyu Suzuki, Naohiko Chohnabayashi
Case Reports in Pulmonology.2013; 2013: 1. CrossRef

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Original Articles

Serum HER2 as a Response Indicator to Various Chemotherapeutic Agents in Tissue HER2 Positive Metastatic Breast Cancer: Sun-Young Kong, Do Hoon Lee, Eun Sook Lee, Susan Park, Keun Seok Lee, Jungsil Ro; Cancer Res Treat. 2006;38(1):35-39. Published online February 28, 2006; DOI: https://doi.org/10.4143/crt.2006.38.1.35

Abstract PDF PubReader ePub

Purpose

The aim of study was to evaluate the usefulness of serum HER2 as a therapeutic response indicator in patients with HER2 positive metastatic breast cancer (MBC).

Materials and Methods

The levels of serum HER2 and CA15.3 were assayed in 148 serial serum samples from 50 HER2 positive MBC patients at both the baseline and follow-ups. The changes in the levels of serum HER2 and CA15.3 in relation to the tumor responses to the various chemotherapy regimens were monitored.

Results

The levels of serum HER2 and CA15.3 were elevated in 82% and 62% of tissue HER2 positive patients, respectively, prior to therapies, with the changes in both tumor markers showing statistical significance in relation to the tumor responses (p<0.01) in patients with elevated baseline serum markers.

Conclusion

The level of serum HER2 could be a valuable response indicator, not only for trastuzumab containing therapy, but also for other common MBC chemotherapeutic agents. Also, as it is more frequently elevated, the serum level of HER2 may also be a more useful tumor marker than CA15.3 in HER2 positive MBC.

Citations

Citations to this article as recorded by

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Amphiregulin confers trastuzumab resistance via AKT and ERK activation in HER2-positive breast cancer
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Oncotarget.2016; 7(39): 63571. CrossRef
Serum HER2 levels are increased in cats with mammary carcinomas and predict tissue HER2 status
Maria Soares, Rita Ribeiro, Shabir Najmudin, Andreia Gameiro, Rita Rodrigues, Fátima Cardoso, Fernando Ferreira
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Hematologic malignancy

Cyclophosphamide, Bortezomib, and Dexamethasone Consolidation in Patients with Multiple Myeloma after Stem Cell Transplantation: The KMM130 Study: Jongheon Jung, Kihyun Kim, Sung-Hoon Jung, Sung-Soo Yoon, Jae Hoon Lee, Jin Seok Kim, Ho-Jin Shin, Soo-Mee Bang, Sang Kyun Sohn, Cheolwon Suh, Dok Hyun Yoon, Sun-Young Kong, Chang-Ki Min, Hyeon-Seok Eom, The Korean Multiple Myeloma Working Party; Cancer Res Treat. 2023;55(2):693-703.; DOI: https://doi.org/10.4143/crt.2022.952

Abstract PDF Supplementary Material PubReader ePub

Purpose
A three-drug combination of cyclophosphamide, bortezomib, and dexamethasone (CVD) shows significant efficacy and manageable toxicity as induction therapy in patients with multiple myeloma.
Materials and Methods
In this phase II study, we enrolled 45 patients who achieved a very good partial response (VGPR) or partial response (PR) after autologous stem cell transplantation (ASCT) and evaluated the efficacy and toxicity of CVD consolidation. CVD consolidation comprised three cycles of cyclophosphamide 300 mg/m² orally on days 1, 8, and 15, and bortezomib 1.3 mg/m² subcutaneously on days 1, 8, 15, and 22, along with dexamethasone 20 mg orally or intravenously on days 1 and 2, 8 and 9, 15 and 16, and 22 and 23.
Results
At enrollment, 39 patients (86.7%) showed VGPR, and nine (13.3%) presented with PR. Nineteen patients (45.2%) achieved a complete response or better as their best response after the end of consolidation. Overall, 22 of 42 patients (52.4%) experienced an improved response status with CVD consolidation. Three-year overall survival and progression-free survival rates were 89.0% and 42.7%, respectively. The most common non-hematologic toxicities were peripheral neuropathy and infection (20.5%), with no grade ≥ 3 neuropathy observed.
Conclusion
These results showed that CVD consolidation therapy improved the response with reasonable toxicity in patients with residual disease after ASCT. This trial was registered with the Clinical Research Information Service, Republic of Korea (KCT0001327).

Citations

Citations to this article as recorded by

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Morie A. Gertz
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Li Lin, Dong Chen, Shuangyue Li, Tiantian Wang
Heliyon.2024; 10(13): e33935. CrossRef

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