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.
Liquid biopsy, powered by Next-Generation Sequencing (NGS), is revolutionizing how lung cancer is detected and managed. Unlike traditional tissue biopsies, which are often invasive and sometimes difficult to perform, liquid biopsy works by analyzing tiny fragments of tumor DNA (ctDNA) or tumor cells (CTCs) that are released into the bloodstream. This non-invasive approach allows clinicians to uncover critical genetic information about the tumor, making it possible to guide treatment and monitor disease with greater ease and precision.
| Type of Cancer | Gene | Drug |
|---|---|---|
| Non–small cell lung cancer (NSCLC) | ALK | Alectinib,crizotinib, ceritinib, lorlatinib, dabrafenib+trametinib |
| Non–small cell lung cancer (NSCLC) | BRAF | Dabrafenib+trametinib |
| Non–small cell lung cancer (NSCLC) | EGFR | Erlotinib, Osimertinib, gefitinib, erlotinib, afatinib, mobocertinib, amivantamb |
| Non–small cell lung cancer (NSCLC) | ERBB2 | Fam-trastuzumab deruxtecan-nxki |
Colorectal cancer (CRC) is the third most commonly diagnosed malignancy and the second leading cause of cancer-related mortality worldwide. Liquid biopsy, particularly when combined with Next-Generation Sequencing (NGS), has emerged as a powerful non-invasive strategy for molecular profiling, therapy guidance, and disease monitoring in CRC.
| Type of Cancer | Gene | Drug |
|---|---|---|
| Colorectal Cancer | EGFR | Cetuximab, Panitumumab |
| Colorectal Cancer | KRAS | Cetuximab, Panitumumab |
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.
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.
| 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) |
*The panel’s performance is from the Illumina platform.
High-Fidelity Coverage for Confident Variant Detection
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.
Mutation Burden Landscape Across Breast Cancer Genes
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.
Efficient On-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.
Uniform BRCA1 Exon Coverage with G2M ctDNA Breast Cancer Panel
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.
Mutation Hotspots Driving Breast Cancer Genomics
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.
| Commercial Name | Cat No. | Pack Size | Platform |
|---|---|---|---|
| ctDNA Lung NGS Test Kit | G710028-1 | 24 T | Illumina |
| G710028-2 | 96 T | Illumina | |
| G710028-3 | 96 T – EZY | Illumina – EZY | |
| ctDNA Lung NGS Test Kit | G710028-4 | 24 T | MGI |
| G710028-5 | 96 T | MGI | |
| G710028-6 | 96 T – EZY | MGI – EZY | |
| ctDNA Lung NGS Test Kit | G710028-7 | 24 T | Aviti |
| G710028-8 | 96 T | Aviti | |
| G710028-9 | 96 T – EZY | Aviti – EZY | |
| ctDNA Lung NGS Test Kit | G710028-10 | 24 T | Thermo |
| G710028-11 | 96 T | Thermo | |
| G710028-12 | 96 T – EZY | Thermo – EZY |
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.
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