Cancer Research and Treatment

Original Articles

Prognostic Performance of the Next-Generation Sequencing-Based Multigene Assay in Early Breast Cancer Patients Treated According to the 21-Gene Assay Results: Eunhye Kang, Jong-Ho Cheun, Jeeyeon Lee, Jiwon Koh, Hyunwoo Lee, Ji-Young Park, Hee Jin Lee, Byeongju Kang, Woong Ki Park, Jeongeun Son, Bumjoon Kim, Woosung Chung, Wonshik Han, Han-Byoel Lee, Sae Byul Lee, Jai Min Ryu; Received October 28, 2024 Accepted December 22, 2024 Published online December 23, 2024; DOI: https://doi.org/10.4143/crt.2024.1035 [Accepted]

Abstract PDF: Purpose
Multigene assays guide treatment decisions in early-stage hormone receptor-positive breast cancer. OncoFREE, a next-generation sequencing assay using 179 genes, was developed for this purpose. This study aimed to evaluate the concordance between the Oncotype DX (ODX) Recurrence Score (RS) and the OncoFREE Decision Index (DI) and to compare their performance.
Materials and Methods
We retrospectively collected tumor blocks from patients who underwent ODX and treatment between 2012 and 2022 at four tertiary hospitals and performed OncoFREE on these samples. Distant metastasis-free survival (DMFS) was compared using RS and DI, with score cut-offs of 25 and 20, respectively.
Results
Among 838 patients, a strong correlation was observed between RS and DI (Pearson correlation coefficient 0.83). At a median follow-up of 54 months, patients with high DI had significantly worse DMFS compared to those with low DI (log-rank p < 0.001, hazard ratio [HR] 5.73, 95% confidence interval [CI] 1.87–17.57; multivariable p=0.048, HR 3.45, 95% CI 1.01–11.76). In 513 patients aged ≤50 years, DMFS was significantly different as a function of DI (p=0.035, HR 3.98, 95% CI 1.00–15.89) but not RS (p=0.792). Among 376 patients aged ≤50 years who avoided chemotherapy based on low RS, 64 with high DI had worse DMFS (p=0.015, HR 5.91, 95% CI 1.17–29.78).
Conclusion
OncoFREE showed strong concordance with ODX and effectively identified high-risk patients, particularly in younger individuals. It could be an affordable alternative to ODX for guiding treatment in hormone receptor-positive early breast cancer.

730 View
127 Download

Breast cancer

Evaluation of a Direct Reverse Transcription Loop-Mediated Isothermal Amplification Method without RNA Extraction (Direct RT-LAMP) for the Detection of Lymph Node Metastasis in Early Breast Cancer: In Hee Lee, Jin Hyang Jung, Soo Jung Lee, Jeeyeon Lee, Ho Yong Park, Ji-Young Park, Jee Young Park, Jae-hwan Jung, Hyunchul Lee, Hyo-Sung Jeon, Yee Soo Chae; Cancer Res Treat. 2022;54(1):174-181. Published online April 26, 2021; DOI: https://doi.org/10.4143/crt.2020.749

Abstract PDF Supplementary Material PubReader ePub

Purpose
Assessing lymph node metastasis, tumor-derived DNA, or tumor-derived RNA has previously been studied in place of immunohistochemical assay. Because a direct reverse transcription loop-mediated isothermal amplification method (direct RT-LAMP) has been previously developed in order to rapidly identify viruses in place of RNA extraction, our team hypothesized that a direct RT-LAMP assay can be employed as a substitute in order to detect tumor involvement of lymph nodes within breast cancer patients.
Materials and Methods
A total amount of 92 lymph nodes removed across 40 patients possessing breast cancer were collected at Kyungpook National University Chilgok Hospital between the months of November 2015 and February 2016. All samples were then evaluated and contrasted via both a direct RT-LAMP assay and routine histopathologic examination.
Results
The sensitivity and specificity of the direct RT-LAMP assay were 85.7% and 100%, respectively. The positive predictive value and negative predictive value were 100% and 94.4%, respectively.
Conclusion
Direct RT-LAMP assay is capable of facilitating the detection of sentinel lymph node metastasis within breast cancer patients intraoperatively possessing an excellent sensitivity via a cost-effective and time-saving manner.

Citations

Citations to this article as recorded by

Development and evaluation of an easy to use real-time reverse-transcription loop-mediated isothermal amplification assay for clinical diagnosis of West Nile virus
Marwa Khedhiri, Melek Chaouch, Kaouther Ayouni, Anissa Chouikha, Mariem Gdoura, Henda Touzi, Nahed Hogga, Alia Benkahla, Wasfi Fares, Henda Triki
Journal of Clinical Virology.2024; 170: 105633. CrossRef
Versatility of reverse transcriptase loop-mediated isothermal amplification (RT-LAMP) from diagnosis of early pathological infection to mutation detection in organisms
Srishti Sen, Priyanka Bhowmik, Shubhangi Tiwari, Yoav Peleg, Boudhayan Bandyopadhyay
Molecular Biology Reports.2024;[Epub] CrossRef

7,189 View
226 Download
2 Web of Science
2 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 Res Treat. 2020;52(3):680-688. Published online January 28, 2020; DOI: https://doi.org/10.4143/crt.2019.351

Abstract PDF Supplementary Material PubReader ePub

Purpose
Recent studies revealed the BRCA1 c.5339T>C, p.Leu1780Pro variant (L1780P) is highly suggested as a likely pathogenic. The aim of this study was to evaluate clinicopathologic features of L1780P with breast cancer (BC) using multicenter data from Korea to reinforce the evidence as a pathogenic mutation and to compare L1780P and other BRCA1/2mutations using Korean Hereditary Breast Cancer (KOHBRA) study data.
Materials and Methods
The data of 54 BC patients with L1780P variant from 10 institutions were collected and the clinicopathologic characteristics of the patients were reviewed. The hereditary breast and/or ovarian cancer–related characteristics of the L1780P variant were compared to those of BC patients in the KOHBRA study.
Results
The median age of all patients was 38 years, and 75.9% of cases showed triple-negative breast cancer. Comparison of cases with L1780P to carriers from the KOHBRA study revealed that the L1780P patients group was more likely to have family history (FHx) of ovarian cancer (OC) (24.1% vs. 19.6% vs. 11.2%, p < 0.001 and p=0.001) and a personal history of OC (16.7% vs. 2.9% vs. 1.3%, p=0.003 and p=0.001) without significant difference in FHx of BC and bilateral BC. The cumulative risk of contralateral BC at 10 years after diagnosis was 31.9%, while the cumulative risk of OC at 50 years of age was 20.0%. Patients with L1780P showed similar features with BRCA1 carriers and showed higher penetrance of OC than patients with other BRCA1 mutations.
Conclusion
L1780P should be considered as a pathogenic mutation. Risk-reducing salpingo-oophorectomy is highly recommended for women with L1780P.

Citations

Citations to this article as recorded by

Whole Exome-Wide Association Identifies Rare Variants in GALNT9 Associated with Middle Eastern Papillary Thyroid Carcinoma Risk
Rong Bu, Abdul K. Siraj, Saud Azam, Kaleem Iqbal, Zeeshan Qadri, Maha Al-Rasheed, Saif S. Al-Sobhi, Fouad Al-Dayel, Khawla S. Al-Kuraya
Cancers.2023; 15(17): 4235. CrossRef
Feasibility of targeted cascade genetic testing in the family members of BRCA1/2 gene pathogenic variant/likely pathogenic variant carriers
Jeeyeon Lee, Ji Yeon Ham, Ho Yong Park, Jin Hyang Jung, Wan Wook Kim, Byeongju Kang, Yee Soo Chae, Soo Jung Lee, In Hee Lee, Nan Young Lee
Scientific Reports.2022;[Epub] CrossRef
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
Discovery of BRCA1/BRCA2 founder variants by haplotype analysis
Won Kyung Kwon, Hyeok-Jae Jang, Jeong Eon Lee, Yeon Hee Park, Jai Min Ryu, Jonghan Yu, Ja-Hyun Jang, Jong-Won Kim
Cancer Genetics.2022; 266-267: 19. CrossRef
Local Laboratory Testing of Germline BRCA Mutations vs. Myriad: A Single-Institution Experience in Korea
Joohyun Hong, Jiyun Lee, Minsuk Kwon, Ji-Yeon Kim, Jong-Won Kim, Jin Seok Ahn, Young-Hyuck Im, Yeon Hee Park
Diagnostics.2021; 11(2): 370. 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
A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study
Kyung-Sun Park, Woochang Lee, Moon-Woo Seong, Sun-Young Kong, Kyung-A Lee, Jung-Sook Ha, Eun-Hae Cho, Sung-Hee Han, Inho Park, Jong-Won Kim
Cancers.2021; 13(9): 2192. CrossRef

9,178 View
189 Download
7 Web of Science
7 Crossref

First
Prev
Page of 1
Next
Last

Search