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Biochemistry, Genetics and Molecular Biology · Research topic

Open research questions in Cancer Genomics and Diagnostics

246 unresolved questions extracted from the limitations and future-work sections of 613 Cancer Genomics and Diagnostics papers in our library. Each links back to the study that raised it.

What the literature leaves open

  • Investigation of molecular and tissue-quality factors, - Development of more accurate models for CRC-PDX engraftment prediction

    Limits of Predicting Colorectal Cancer PDX Engraftment: A Specimen-Grouped Machine Learning Analysis of 1007 Establishment Attempts · 2026 · DOI

  • Positive post-treatment ctDNA was associated with inferior survival and preceded clinical detection in most cases, supporting ctDNA integration into surveillance strategies, though prospective validation is warranted.

    Methylation-Based ctDNA for Post-Treatment Surveillance of Non-Viral Head and Neck Cancer · 2026 · DOI

  • Tumor-informed circulating tumor DNA (ctDNA) enables detection of molecular residual disease (MRD) after curative resection of colorectal cancer (CRC), but whether early intervention improves outcomes remains uncertain.

    Post-adjuvant chemotherapy in ctDNA-positive patients with resected colorectal cancer: a randomized phase 3 trial · 2026 · DOI

  • Although comprehensive genomic profiling (CGP) can identify emerging resistance alterations, its clinical utility in patients with known actionable driver alterations remains unclear.

    Comprehensive Genomic Profiling Beyond Driver Testing in Non‐Squamous Non‐Small Cell Lung Cancer With Known Drivers · 2026 · DOI

  • Importantly, studies have shown that reliance on genomic analysis alone is insufficient to achieve optimal targeted therapy, underscoring the need for multi-layered molecular interrogation.

    Integrated and Comprehensive Diagnostics: An Emerging Paradigm in Precision Oncology · 2026 · DOI

  • This review examines illustrative examples of noncoding mutations in cancer, focusing on both key regulatory elements and risk-associated variants that remain poorly understood, and compares key artificial intelligence models developed over the last decade for identifying functional noncoding variants, predicting gene expression impacts, and uncovering cancer-associated mutations.

    Illuminating the Noncoding Genome in Cancer Using Artificial Intelligence · 2025 · DOI

  • Our functional understanding of the impact of EMT on cancer has been limited by the lack of effective tools to ablate tumor cells as they become mesenchymal.

    To EMT or Not to EMT: Ablation of Mesenchymal Tumor Cell Lineages Reveals the Essential Role of EMT in Pancreatic Cancer Initiation and Evolution · 2025 · DOI

  • While cbDNA shows potential as a diagnostic and prognostic biomarker, the lack of consensus in methodologies and populations studied calls for standardized approaches and large cohorts to establish cbDNA as a reliable CVD biomarker.

    Circulating bacterial DNA in cardiovascular disease · 2025 · DOI

  • Future research should focus on identifying the source of cbDNA and its pathological relevance, utilizing advanced sequencing techniques and standardized cohorts for conclusive findings.

    Circulating bacterial DNA in cardiovascular disease · 2025 · DOI

  • Although restrictive eligibility criteria contribute to this issue, the role of selection bias related to prognostic risk remains unclear.

    Evaluating generalizability of oncology trial results to real-world patients using machine learning-based trial emulations · 2025 · DOI

  • However, the exclusive fragmentation pattern of DNA-derived cell-free repetitive elements (cfREs) remains unclear.

    Comprehensive fragmentation of cell-free repetitive DNA for enhanced cancer detection in plasma · 2025 · DOI

  • While many driver genes were identified decades ago, and most cancers can be classified based on morphology and progression, there is still a significant gap in knowledge about genetic aberrations and nuclear DNA damage.

    Translational Advances in Oncogene and Tumor-Suppressor Gene Research · 2025 · DOI

  • Nonetheless, ctDNA profiling in concordance with standard solid tumor comprehensive genomic profiling (CGP) is poorly characterized for STSs.

    Unlocking the Potential of ctDNA in Sarcomas: A Review of Recent Advances · 2025 · DOI

  • In this way, we have identified over 105,000 novel SMs that had not been reported in previous TCGA studies.

    Pan-cancer discovery of somatic mutations from RNA sequencing data · 2024 · DOI

  • It remains unknown whether offering WGS to every child with suspected cancer can change patient management.

    Benefits for children with suspected cancer from routine whole-genome sequencing · 2024 · DOI

  • However, the broader clinical application of cfDNA is currently impeded by a lack of standardization in the preanalytical procedures for cfDNA analysis.

    The impact of preanalytical variables on the analysis of cell-free DNA from blood and urine samples · 2024 · DOI

  • However, its utility before and after liver transplant (LT) for patients with primary and secondary liver cancers is still underexplored.

    Circulating Tumor DNA Profiling in Liver Transplant for Hepatocellular Carcinoma, Cholangiocarcinoma, and Colorectal Liver Metastases: A Programmatic Proof of Concept · 2024 · DOI

  • While the use of ctDNA as a screening method for the asymptomatic population would be highly advantageous due to its minimally invasive nature, the available data on its clinical benefit are still insufficient.

    Circulating Tumor DNA in Early and Metastatic Breast Cance—Current Role and What Is Coming Next · 2024 · DOI

  • However, the feasibility of implementing this approach in a clinical setting remains to be seen.

    Circulating Tumor DNA in Early and Metastatic Breast Cance—Current Role and What Is Coming Next · 2024 · DOI

  • Since hypothesis-driven AI is still in its infancy, open questions such as how to better incorporate new knowledge and biological perspectives to ameliorate bias and improve interpretability in the design of AI algorithms still need to be addressed.

    The Rise of Hypothesis-Driven Artificial Intelligence in Oncology · 2024 · DOI

  • Liquid biopsy is rapidly becoming an indispensable tool in the oncologist’s arsenal; however, this technique remains elusive in a publicly funded healthcare system, and real-world evidence is needed to demonstrate utility and feasibility.

    Point of Care Liquid Biopsy for Cancer Treatment—Early Experience from a Community Center · 2024 · DOI

  • Background: Precision oncology treatments are being applied more commonly in breast and gynecological oncology through the implementation of Molecular Tumor Boards (MTBs), but real-world clinical outcome data remain limited.

    NGS-Guided Precision Oncology in Breast Cancer and Gynecological Tumors—A Retrospective Molecular Tumor Board Analysis · 2024 · DOI

  • Larger studies are warranted to facilitate the building of highly accurate response-predictive and prognostic models that are generalizable to other datasets and clinical settings.

    Integrating Imaging and Circulating Tumor DNA Features for Predicting Patient Outcomes · 2024 · DOI

  • However, the utility of ctDNA in enhancing pCR prediction for a W&W strategy warrants further investigation.

    Circulating Tumor DNA for Prediction of Complete Pathological Response to Neoadjuvant Radiochemotherapy in Locally Advanced Rectal Cancer (NEORECT Trial) · 2024 · DOI

  • The complexity of the mechanisms underlying different cancers. The need for accurate and efficient pan-cancer screening models. The limited compliance with single-cancer screening due to time and cost.

    Methylation entropy as a novel dimension in liquid biopsy: enhanced multimodal framework for cancer detection and tissue-of-origin classification · 2026 · DOI

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246 open questions have been extracted from the limitations and future-work passages of 613 Cancer Genomics and Diagnostics papers in our library. Each one below links back to the study that raised it, so you can read the original claim in context.

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