Gynecological cancers, including ovarian, cervical, uterine, and endometrial cancers, remain some of the most complex malignancies to study. While survival has improved in many cancers, uterine corpus cancer is trending upward; in 2025, the U.S. is expected to see 69,120 new cases and 13,860 deaths, and mortality increased about 1.5% per year from 2013 to 2022. These trends point to the need for deeper molecular data to guide translational research.

Next-generation sequencing offers oncology researchers tools to explore gynecological cancers at multiple levels, from broad tumor profiling panels to single-cell resolution. With these approaches, researchers can generate high-resolution molecular data; identify clinically relevant variants; and connect genomic findings to disease mechanisms.

Tumor Profiling in Gynecological Cancers with TSO 500

For researchers studying ovarian, endometrial, or cervical tumors, a key question is simple: how do you capture the full spectrum of clinically relevant alterations in a single assay?

The TruSight Oncology 500 (TSO 500) assay addresses this with broad coverage across hundreds of cancer-related genes. It detects multiple variant types in one workflow, including SNVs, indels, CNVs, and gene fusions, and it reports TMB and MSI.

In gynecological cancers, these insights are especially valuable for profiling alterations in genes such as TP53, BRCA1/2, and mismatch repair genes. With a detailed molecular profile, researchers can better stratify tumor subtypes; connect genomic signatures with outcomes; and identify biomarkers that guide translational studies.

Single-Cell Sequencing for Tumor Heterogeneity

Another practical question: why use single-cell sequencing in gynecological cancers?

Tumor heterogeneity is a defining feature of ovarian and endometrial cancers. In 2025, ovarian cancer alone is expected to cause 20,890 new cases and 12,730 deaths in the U.S., underscoring the need for sharper molecular tools. Within a single tumor, diverse cell populations can influence progression, immune evasion, or therapy resistance. Bulk sequencing averages these signals; rare but clinically important populations can be missed. Single-cell RNA sequencing provides the resolution to reveal these dynamics.

With single-cell approaches, researchers can:

• Map interactions within the tumor microenvironment, including immune infiltration and stromal activity
• Identify rare or resistant subpopulations that may drive recurrence
• Trace clonal evolution to understand how tumors adapt over time

In high-grade serous ovarian cancer, single-cell studies have uncovered distinct tumor and immune cell states that do not appear in bulk data.

Multiomics: Linking Profiles to Cellular Function

A natural extension of these approaches is to ask how combining tumor profiling with single-cell data strengthens gynecological cancer research.

The value lies in integration. TSO 500 provides comprehensive coverage of genomic alterations; single-cell sequencing reveals how these alterations manifest across specific cell types within the tumor. Together, these methods allow researchers to:

• Connect genomic variants with expression patterns that are specific to cell type
• Identify pathways of therapeutic resistance across tumor subclones
• Build stronger foundations for biomarker discovery and translational research

This layered perspective extends beyond cataloging variants; it clarifies how molecular changes are translated into cellular behavior.

Partnering to Support Oncology Research

Ultimately, researchers want to know what support to expect from an NGS service provider.

At Signios Bio, we provide sequencing services designed for oncology research. Our portfolio spans whole-genome and RNA sequencing, specialized oncology panels such as TSO 500, and single-cell workflows. Each project includes dedicated bioinformatics expertise, so you have accuracy, interpretability, and confidence in your results.

Explore how NGS services can support your gynecological cancer research. Learn more at signiosbio.com

References

1. American Cancer Society. Cancer Facts & Figures 2025. Uterine corpus estimates and trend data.
2. American Cancer Society. Key Statistics for Ovarian Cancer, 2025.
3. Illumina. TruSight Oncology 500 product documentation and data sheets; assay detects SNVs, indels, CNVs, fusions; reports TMB and MSI.
4. Izar B, Tirosh I, Stover EH, et al. A single-cell landscape of high-grade serous ovarian cancer. Nature Medicine. 2020;26(8):1271–1279.
5. Marusyk A, Polyak K. Tumor heterogeneity: causes and consequences. Biochim Biophys Acta. 2010;1805(1):105–117.
6. SEER Program. Cancer Stat Facts: Uterine Cancer; Ovarian Cancer. Supplemental baseline incidence and mortality context.