Liquid Biopsy

ctDNA Breast Cancer

Liquid Biopsy NGS Assay

Cancer is one of the leading causes of death worldwide, yet many types still don’t have regular screening programs. Even when screening is available, many people at higher risk find the tests difficult or uncomfortable to follow. Newer blood-based tests, like liquid biopsies, are showing promise for early detection of cancers. Liquid biopsy is a method where circulating tumor DNA (ctDNA) shed from the tumor is extracted and sequenced. This unveils the necessary information regarding cancer causing mutations in the related genes enhancing clinicians to decide the best course of treatment.

IVD Instrument

Panel Overview


G2M offers a panel for liquid biopsy covering major cancer types like Lung, Breast and Colorectal cancer. This panel gives a detailed insight on cancer-related genes to uncover known as well as novel variants for further investigation.

Key features & highlights:

  • Focused Comprehensively Validated Panel:Covers all relevant genes with the ability to detect ultra-low VAF mutations, delivering clinical-grade precision you can trust.
  • Low Input: Process compatible with low input quality compromised samples.
  • Robust and Rapid Workflow: Hybridization enhancer technology and enzyme-based library preparation enables quick turnaround time.
  • Hassle-Free Data and Reporting: User-friendly software for data upload, automated and cloud-based analysis followed by report generation.

ctDNA Breast Cancer

Breast Cancer Detection and Monitoring Powered by Liquid Biopsy and NGS Breast cancer is characterized by the uncontrolled proliferation of malignant epithelial cells within the breast tissue, leading to tumor formation. Although rare in men, it remains predominantly a disease of women and represents a major global health burden. Breast cancer is represented by substantial heterogeneity, encompassing diverse genetic alterations and distinct histopathological subtypes. Despite advances in research, the precise molecular mechanisms driving its initiation and progression remain incompletely understood. The biggest risk factors include simply being female and increasing age. Other factors like family history, gene mutations, race/ethnicity, pregnancy history, breast feeding history and unhealthy lifestyle can also raise the likelihood of developing breast cancer. Research shows that inherited genetic factors contribute to about 5-10% of all breast cancer cases and follow an autosomal dominant inheritance pattern, but in women under 30, they may explain up to 25% of diagnoses. Among these, mutations in the BRCA1 and BRCA2 genes are the most well-recognized causes of hereditary breast cancer risk.

How Genes Affect Breast Cancer:

Hereditary breast cancer risk is largely determined by the specific gene affected. Pathogenic variants in BRCA1 and BRCA2 are transmitted in an autosomal dominant manner, whereby a single mutant allele is sufficient to confer increased susceptibility. Although breast cancer predominantly affects women, these germline mutations can be inherited from either the maternal or paternal lineage.

In breast cancer, cell-free circulating tumor DNA (ctDNA) is emerging as a powerful, noninvasive biomarker that may reduce the need for traditional tissue biopsies. Through liquid biopsy, ctDNA shed by tumors into the bloodstream can be analyzed to track genetic changes. Using next-generation sequencing (NGS), even very small amounts of ctDNA can be detected with high accuracy, enabling the identification of both specific gene mutations and broader, genome-wide alterations that drive breast cancer. This helps in guiding targeted therapies and personalized treatment choices. The ctDNA Breast Cancer Panel analyzes key genes linked to tumor growth and treatment response. This table highlights important genes along with the targeted therapies that may be considered.

Type of Cancer Gene Drug
Breast cancer, Metastatic Castrate Resistant Prostate Cancer, Ovarian Cancer BRCA1 Olaparib, Rucaparib, Niraparib + Abiraterone acetate
Ovarian Cancer, Breast cancer BRCA2 Talazoparib
Breast Cancer ERBB2 Trastuzumab, Pertuzumab, Ado-trastuzumab emtansine
Breast Cancer ESR1 Elacestrant (Orserdu)

Designed for ease and precision, the Genes2me ctDNA Breast Cancer Panel uses a blood/plasma draw to analyze tumor-derived DNA fragments in the bloodstream. This is a hybridization-based solution for targeted sequencing employing NGS. The screening method involves using circulating tumor cells that are used as biomarkers to detect breast cancer. With a fast turnaround time this product provides detection and identifies critical mutations in 63 clinically relevant breast cancer genes spanning 115 Kb of genome size (whole coding sequence) that covers all major mutations like SNV and InDels linked to breast cancer. It is ideal for early diagnosis and detection, prognosis prediction, detecting mutations and structural alterations, minimal residual disease (MRD), tumor mutational burden, and tumor evolution tracking.

Panel Performance

Features Performance
Coverage uniformity (0.2X) >99%
Reproducibility (%) 96.3
Sensitivity (%) 96
On Target Ratio (%) 70-85

Panel Specifications


Parameter Description
Gene count 63 (14 DNA fusions)
Covered region Whole CDS
Target size 440 Kb
Mutation types SNV / InDels / CNV
Sample type Blood / Plasma
Platform compatibility Illumina, Thermo Fisher (Ion Torrent), MGI, Element Biosciences
Bioinformatics Support: Primary Analysis: FASTQ to annotated VCF
Secondary Analysis: CNVs, SNVs, InDel, Fusions
Tertiary Analysis: Clinical interpretation

Process Workflow


NGS workflow

Data Analysis and Reporting


High-Fidelity Coverage for Confident Variant Detection
ctDNA breast

Reliable and Uniform Coverage of Key Cancer Genes:

Coverage profiles of critical genes (ESR1, BRCA1, PIK3CA, ERBB2, and GATA3) exhibit strong concordance between mean (solid line) and median (dashed line) depth, demonstrating uniform sequencing and minimal bias across all target regions. This alignment highlights the assay’s robust performance and reliability, ensuring confident results across diverse breast cancer samples.

Efficient On-Target Capture for Liquid Biopsy Precision
ctDNA breast

Reliable Target Capture for Liquid Biopsy Precision:

The ctDNA breast cancer panel consistently delivers more than 75% on-target alignment, reflecting its smart design and efficient target capture. This ensures reliable mutation detection from low-input samples, enabling early diagnosis, treatment monitoring, and scalable diagnostic utility.

Mutation Burden Landscape Across Breast Cancer Genes
ctDNA breast

Mutation Dynamics Shaping Breast Cancer Genomics:

Distribution of variant allele frequencies (VAFs) in 158 breast cancer samples reveals distinct mutation patterns. Genes such as AR, CCND1, and FGFR1 exhibit higher median VAFs with broad variability, indicating a substantial mutation burden and potential influence on disease progression. Conversely, APC, EGFR, and KIT show lower, more uniform VAFs, suggesting a stable or limited role in the overall genomic architecture.

Mutation Hotspots Driving Breast Cancer Genomics
Gene-wise coverage

Mutation Spectrum in ctDNA Breast Cancer Panel:

Oncoplot showcasing the 12 most frequently mutated genes in ctDNA breast cancer samples. Missense mutations (green) dominate, followed by in-frame deletions (yellow), while multi-hit events (black) indicate multiple mutation types within the same gene. The right panel summarizes mutation frequency per gene.

Uniform BRCA1 Exon Coverage with G2M ctDNA Breast Cancer Panel
ctDNA breast

Consistent BRCA1 Coverage Across Critical Exons:

The figure illustrates read coverage for BRCA1 exons 3, 4, and 5. The top panel highlights the BRCA1 target region (green), the middle panel displays per-base coverage depth achieved by the G2M ctDNA Breast Cancer Panel (blue), and the bottom panel represents the gene’s coding regions as annotated by RefSeq (orange). This visualization underscores uniform coverage across clinically significant exons, ensuring reliable variant detection.

Ordering Information


Commercial Name Cat No. Pack Size Platform
ctDNA-Breast NGS Test Kit G710011-1 24 T Illumina
G710011-2 96 T Illumina
G710011-3 96 T – EZY Illumina – EZY
ctDNA-Breast NGS Test Kit G710011-4 24 T MGI
G710011-5 96 T MGI
G710011-6 96 T – EZY MGI – EZY
ctDNA-Breast NGS Test Kit G710011-7 24 T Aviti
G710011-8 96 T Aviti
G710011-9 96 T – EZY Aviti – EZY
ctDNA-Breast NGS Test Kit G710011-10 24 T Thermo
G710011-11 96 T Thermo
G710011-12 96 T – EZY Thermo – EZY

Resources to get started


Download useful documents and technical information of Liquid Biopsy ctDNA Breast Cancer.

Product Enquiry Form


Since its inception in 2016, Genes2me has been constantly striving towards setting a benchmark in the diagnostics space by introducing premium quality (Made in India) diagnostic kits which are CE-IVD, ISO-13485:2016, and ISO 9001:2015 certified, assuring our clients of unparalleled quality and compliance with international standards.

All products listed in the catalogue are the products of Genes2Me Private Limited. Apart from that, all other product names, trademarks and logos wherever used in the catalogue are the property of their respective owners.


© 2025 Genes2me. All rights reserved.