Concordance of Targeted Sequencing from Circulating Tumor DNA and Paired Tumor Tissue for Early Breast Cancer

Chi Cheng Huang; Yi Fang Tsai; Chun Yu Liu; Pei Ju Lien; Yen Shu Lin; Ta Chung Chao; Chin Jung Feng; Yen Jen Chen; Jiun I. Lai; Han Fang Cheng; Bo Fang Chen; Chih Yi Hsu; Jen Hwey Chiu; Ling Ming Tseng

doi:10.3390/cancers15184475

Concordance of Targeted Sequencing from Circulating Tumor DNA and Paired Tumor Tissue for Early Breast Cancer

Chi Cheng Huang, Yi Fang Tsai, Chun Yu Liu, Pei Ju Lien, Yen Shu Lin, Ta Chung Chao, Chin Jung Feng, Yen Jen Chen, Jiun I. Lai, Han Fang Cheng, Bo Fang Chen, Chih Yi Hsu, Jen Hwey Chiu, Ling Ming Tseng^*

^*此作品的通信作者

研究成果: Article › 同行評審

摘要

In this study, we evaluated the concordance of targeted sequencing between paired ctDNA and matched tumor samples from early breast cancers treated with curative intention. Molecular profiling was performed using the Oncomine Comprehensive Assay v3 and the Oncomine Breast cfDNA Assay v2. The liquid biopsy detection rate was 39% (all-stage breast cancers, n = 612). Among 246 early-stage patients assayed for both ctDNA and matched tumor, the cfDNA assay detected 73 (29.6%) and the comprehensive assay detected 201 (81.7%) breast cancers with at least one alteration (χ² test, p = 0.001). In total, 67 (25.6%) cases tested positive on both platforms, while the cfDNA and comprehensive assays detected an additional 10 (4%) and 138 (56%) cases, respectively. The most prevalent mutant genes were TP53 (68.3%) and KRAS (53.5%), while the PIK3CA (39.4%), AKT1 (45.9%), and ERBB2 (17.1%) mutations constituted biomarkers for FDA-approved therapeutics. Our study showed that tumor tissue should be the source of actionable mutation detection for early breast cancers, considering that the concordance rate between tumor and liquid biopsy was only one-quarter.

原文	English
文章編號	4475
期刊	Cancers
卷	15
發行號	18
DOIs	https://doi.org/10.3390/cancers15184475
出版狀態	Published - 9月 2023

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10.3390/cancers15184475

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Huang, C. C., Tsai, Y. F., Liu, C. Y., Lien, P. J., Lin, Y. S., Chao, T. C., Feng, C. J., Chen, Y. J., Lai, J. I., Cheng, H. F., Chen, B. F., Hsu, C. Y., Chiu, J. H., & Tseng, L. M. (2023). Concordance of Targeted Sequencing from Circulating Tumor DNA and Paired Tumor Tissue for Early Breast Cancer. Cancers, 15(18), 文章 4475. https://doi.org/10.3390/cancers15184475

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title = "Concordance of Targeted Sequencing from Circulating Tumor DNA and Paired Tumor Tissue for Early Breast Cancer",

abstract = "In this study, we evaluated the concordance of targeted sequencing between paired ctDNA and matched tumor samples from early breast cancers treated with curative intention. Molecular profiling was performed using the Oncomine Comprehensive Assay v3 and the Oncomine Breast cfDNA Assay v2. The liquid biopsy detection rate was 39% (all-stage breast cancers, n = 612). Among 246 early-stage patients assayed for both ctDNA and matched tumor, the cfDNA assay detected 73 (29.6%) and the comprehensive assay detected 201 (81.7%) breast cancers with at least one alteration (χ2 test, p = 0.001). In total, 67 (25.6%) cases tested positive on both platforms, while the cfDNA and comprehensive assays detected an additional 10 (4%) and 138 (56%) cases, respectively. The most prevalent mutant genes were TP53 (68.3%) and KRAS (53.5%), while the PIK3CA (39.4%), AKT1 (45.9%), and ERBB2 (17.1%) mutations constituted biomarkers for FDA-approved therapeutics. Our study showed that tumor tissue should be the source of actionable mutation detection for early breast cancers, considering that the concordance rate between tumor and liquid biopsy was only one-quarter.",

keywords = "concordance, ctDNA, early-stage breast cancer, liquid biopsy, targeted sequencing, tumor sequencing",

author = "Huang, {Chi Cheng} and Tsai, {Yi Fang} and Liu, {Chun Yu} and Lien, {Pei Ju} and Lin, {Yen Shu} and Chao, {Ta Chung} and Feng, {Chin Jung} and Chen, {Yen Jen} and Lai, {Jiun I.} and Cheng, {Han Fang} and Chen, {Bo Fang} and Hsu, {Chih Yi} and Chiu, {Jen Hwey} and Tseng, {Ling Ming}",

note = "Publisher Copyright: {\textcopyright} 2023 by the authors.",

year = "2023",

month = sep,

doi = "10.3390/cancers15184475",

language = "English",

volume = "15",

journal = "Cancers",

issn = "2072-6694",

publisher = "Multidisciplinary Digital Publishing Institute",

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TY - JOUR

T1 - Concordance of Targeted Sequencing from Circulating Tumor DNA and Paired Tumor Tissue for Early Breast Cancer

AU - Huang, Chi Cheng

AU - Tsai, Yi Fang

AU - Liu, Chun Yu

AU - Lien, Pei Ju

AU - Lin, Yen Shu

AU - Chao, Ta Chung

AU - Feng, Chin Jung

AU - Chen, Yen Jen

AU - Lai, Jiun I.

AU - Cheng, Han Fang

AU - Chen, Bo Fang

AU - Hsu, Chih Yi

AU - Chiu, Jen Hwey

AU - Tseng, Ling Ming

PY - 2023/9

Y1 - 2023/9

N2 - In this study, we evaluated the concordance of targeted sequencing between paired ctDNA and matched tumor samples from early breast cancers treated with curative intention. Molecular profiling was performed using the Oncomine Comprehensive Assay v3 and the Oncomine Breast cfDNA Assay v2. The liquid biopsy detection rate was 39% (all-stage breast cancers, n = 612). Among 246 early-stage patients assayed for both ctDNA and matched tumor, the cfDNA assay detected 73 (29.6%) and the comprehensive assay detected 201 (81.7%) breast cancers with at least one alteration (χ2 test, p = 0.001). In total, 67 (25.6%) cases tested positive on both platforms, while the cfDNA and comprehensive assays detected an additional 10 (4%) and 138 (56%) cases, respectively. The most prevalent mutant genes were TP53 (68.3%) and KRAS (53.5%), while the PIK3CA (39.4%), AKT1 (45.9%), and ERBB2 (17.1%) mutations constituted biomarkers for FDA-approved therapeutics. Our study showed that tumor tissue should be the source of actionable mutation detection for early breast cancers, considering that the concordance rate between tumor and liquid biopsy was only one-quarter.

AB - In this study, we evaluated the concordance of targeted sequencing between paired ctDNA and matched tumor samples from early breast cancers treated with curative intention. Molecular profiling was performed using the Oncomine Comprehensive Assay v3 and the Oncomine Breast cfDNA Assay v2. The liquid biopsy detection rate was 39% (all-stage breast cancers, n = 612). Among 246 early-stage patients assayed for both ctDNA and matched tumor, the cfDNA assay detected 73 (29.6%) and the comprehensive assay detected 201 (81.7%) breast cancers with at least one alteration (χ2 test, p = 0.001). In total, 67 (25.6%) cases tested positive on both platforms, while the cfDNA and comprehensive assays detected an additional 10 (4%) and 138 (56%) cases, respectively. The most prevalent mutant genes were TP53 (68.3%) and KRAS (53.5%), while the PIK3CA (39.4%), AKT1 (45.9%), and ERBB2 (17.1%) mutations constituted biomarkers for FDA-approved therapeutics. Our study showed that tumor tissue should be the source of actionable mutation detection for early breast cancers, considering that the concordance rate between tumor and liquid biopsy was only one-quarter.

KW - concordance

KW - ctDNA

KW - early-stage breast cancer

KW - liquid biopsy

KW - targeted sequencing

KW - tumor sequencing

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U2 - 10.3390/cancers15184475

DO - 10.3390/cancers15184475

M3 - Article

AN - SCOPUS:85172801125

SN - 2072-6694

VL - 15

JO - Cancers

JF - Cancers

IS - 18

M1 - 4475

ER -

Concordance of Targeted Sequencing from Circulating Tumor DNA and Paired Tumor Tissue for Early Breast Cancer

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