Detection of TP53/PIK3CA Mutations in Cell-Free Plasma DNA From Metastatic Breast Cancer Patients Using Next Generation Sequencing

Nakauchi, Chiaki; Kagara, Naofumi; Shimazu, Kenzo; Shimomura, Atsushi; Naoi, Yasuto; Shimoda, Masafumi; Kim, Seung Jin; Noguchi, Shinzaburo

doi:10.1016/j.clbc.2016.05.004

Cited by 30 publications

(26 citation statements)

References 22 publications

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“…A number of studies have utilized the use of cfDNA and CTCs, and identified genes that can be used as a marker for prognosis using liquid biopsy . For example, a retrospective study conducted by Maltoni et al analyzed the prognostic role of cfDNA quantity and integrity of frequently altered genes in breast cancer, some of which included HER2 , MYC and PI3KCA .…”

Section: Utilization Of Liquid Biopsy For Breast Cancer In the Clinicmentioning

confidence: 99%

“…160 A number of studies have utilized the use of cfDNA and CTCs, and identified genes that can be used as a marker for prognosis using liquid biopsy. 170,171 For example, a retrospective study conducted by They detected TP53 mutations in 84% of the tumor tissue samples and 81% of the plasma samples. In addition, they observed CTC counts above 1 in 70% of the patients and above 5 in 52% of the patients.…”

Section: Predicting Recurrence and Prognosis In Breast Cancermentioning

confidence: 99%

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Liquid biopsy in breast cancer: A comprehensive review

2019

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Breast cancer is the most common cancer among women worldwide. Due to its complexity in nature, effective breast cancer treatment can encounter many challenges. Traditional methods of cancer detection such as tissue biopsy are not comprehensive enough to capture the entire genomic landscape of breast tumors. However, with the introduction of novel techniques, the application of liquid biopsy has been enhanced, enabling the improvement of various aspects of breast cancer management including early diagnosis and screening, prediction of prognosis, early detection of relapse, serial sampling and efficient longitudinal monitoring of disease progress and response to treatment. Various components of tumor cells released into the blood circulation can be analyzed in liquid biopsy sampling, some of which include circulating tumor cells (CTCs), circulating tumor DNA (ctDNA), cell‐free RNA, tumor‐educated platelets and exosomes. These components can be utilized for different purposes. As an example, ctDNA can be sequenced for genetic profiling of the tumors to enhance individualized treatment and longitudinal screening. CTC plasma count analysis or ctDNA detection after curative tumor resection surgery could facilitate early detection of minimal residual disease, aiding in the initiation of adjuvant therapy to prevent recurrence. Furthermore, CTC plasma count can be assessed to determine the stage and prognosis of breast cancer. In this review, we discuss the advantages and limitations of the various components of liquid biopsy used in breast cancer diagnosis and will expand on aspects that require further focus in future research.

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Section: Utilization Of Liquid Biopsy For Breast Cancer In the Clinicmentioning

confidence: 99%

Section: Predicting Recurrence and Prognosis In Breast Cancermentioning

confidence: 99%

Liquid biopsy in breast cancer: A comprehensive review

2019

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“…Cell-free DNA (cfDNA) refers to fragmented DNA from cells that circulate in blood [ 14 – 16 ]. cfDNA in cancer patients include tumor-derived DNA (circulating tumor DNA: ctDNA), which can harbor tumor-specific genetic changes.…”

Section: Introductionmentioning

confidence: 99%

HER2 genomic amplification in circulating tumor DNA and estrogen receptor positivity predict primary resistance to trastuzumab emtansine (T-DM1) in patients with HER2-positive metastatic breast cancer

et al. 2018

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BackgroundTrastuzumab emtansine (T-DM1) is approved for the treatment of patients with human epidermal growth factor receptor 2 (HER2)-positive advanced breast cancer (ABC), and has high efficacy. However, some patients exhibit primary resistance to T-DM1, and thus methods that can predict resistance in clinical practice are needed. Genomic analysis of circulating tumor DNA (ctDNA) in plasma is a non-invasive and reproducible method. This study aimed to predict primary resistance to T-DM1 by combining genomic analysis of ctDNA and other clinicopathological features of patients with HER2-positive ABC.MethodsThe study population comprised 34 patients with HER2-positive ABC who had been treated with T-DM1. Correlations between clinicopathological characteristics of patients and primary resistance to T-DM1 were examined, and HER2 gene copy number and PIK3CA gene mutations were analyzed using plasma ctDNA samples obtained from 16 patients before T-DM1 administration.ResultsAmong the 34 patients, nine (26.5%) had progressive disease at the first efficacy analysis; these patients were considered to have primary resistance to T-DM1. No significant difference was found in the rate of primary resistance to T-DM1 between groups. Among 16 patients whose ctDNA was analyzed, four showed primary resistance to T-DM1. These four patients showed negative HER2 gene amplification in ctDNA and were ER-positive and/or PR-positive by immunohistochemistry.ConclusionsHER2 gene amplification in ctDNA and ER and PR status may predict primary resistance to T-DM1. A liquid biopsy before the initiation of T-DM1 treatment could be a non-invasive way to predict whether a patient would exhibit primary resistance to T-DM1.

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“…Next generation sequencing of somatic tumor specific mutations such as TP53/ PIK3CA and PI3Kgene mutations in circulating DNA has successfully demonstrated that tracking tumor-specific circulating free DNA may provide valuable, accurate and feasible tool for monitoring disease and therapy in breast cancer patients [6,7]. Genomic aberration specifically mutations have been detected in the hotspot regions of exon 9 and 20 of the PIK3CA in single circulating tumor cells of patients suffering from HER2-negative metastatic breast cancer [8].…”

Section: Circulating Dnamentioning

confidence: 99%

An Update on Breast Cancer Biomarkers

Wahid¹

2017

MOJI

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Breast cancer is the most common cancer that affects millions of people worldwide. Delayed diagnosis of these cancers has increased the morbidity and mortality. However, the vast research on cancer biomarkers during recent years provide a powerful and dynamic approach to understand the wide spectrum of cancers with applications in prognosis, diagnosis, screening, randomized clinical trials, and observational and analytic epidemiology. Cancer biomarkers have tremendously increased the efficacy of treatment and efficacy of detection. We have comprehensively summarized various biomarkers of breast cancer and highlighted recent research.

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Detection of TP53/PIK3CA Mutations in Cell-Free Plasma DNA From Metastatic Breast Cancer Patients Using Next Generation Sequencing

Cited by 30 publications

References 22 publications

Liquid biopsy in breast cancer: A comprehensive review

Liquid biopsy in breast cancer: A comprehensive review

HER2 genomic amplification in circulating tumor DNA and estrogen receptor positivity predict primary resistance to trastuzumab emtansine (T-DM1) in patients with HER2-positive metastatic breast cancer

An Update on Breast Cancer Biomarkers

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