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Biochemistry, Genetics and Molecular Biology · Research topic

Open research questions in Cancer Genomics and Diagnostics

720 gap statements mined from Cancer Genomics and Diagnostics papers in our 7.9M-paper local library, which holds 3,381 papers on the topic — drawn mostly from each paper's own stated research gap, future-work, challenge and limitation notes, and its abstract. The ones listed below are a selection still marked open; each names the study that raised it, with a DOI link where the paper has one.

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What the literature leaves open

  • One challenge is the methodological heterogeneity between studies, which can influence apparent biomarker performance. Another challenge is the presence of biological and clinical confounders, such as hematuria, which can alter the relative abundance of tumor-derived molecules. The paper also identifies the need for standardization and clinical validation as a major challenge.

    Urinary DNA Extraction in Uro-Oncology and Selected Non-Urological Malignancies: A Narrative Review · 2026 · DOI

  • There is a need for standardized preanalytical workflows in liquid biopsy testing. Pre-analytical variability can affect clinical interpretation. There is a lack of comparison between different automated extraction methods for cfDNA extraction.

    Comparative evaluation of two automated magnetic-bead cfDNA extraction workflows in early colorectal cancer · 2026 · DOI

  • Current methods for genetic mutation detection in colorectal cancer have limitations in terms of sensitivity, time consumption, and cost. There is a need for a rapid, cost-effective, and high-throughput detection method for KRAS mutations.

    Analysis of Colorectal Cancer Gene Mutations and Application of Long Blocker Displacement Amplification Technology for High-Throughput Mutation Detection · 2025 · DOI

  • Limited sensitivity and specificity of serum alpha-fetoprotein for HCC diagnosis and monitoring. Need for a more accurate and reliable diagnostic tool for HCC. Gap in understanding the clinical potential of cell-free DNA and circulating tumor cells in HCC diagnosis and treatment monitoring.

    Cell-Free DNA Versus Circulating Tumor Cells: A Pilot Study of Alpha-Fetoprotein Analysis for Diagnosis and Treatment Monitoring in Hepatocellular Carcinoma · 2025 · DOI

  • Limited less invasive approaches for EGFR mutation profiling. Need for novel methods to detect EGFR mutations in CTCs.

    Establishment of a Flow Cytometry Protocol for Binarily Detecting Circulating Tumor Cells with EGFR Mutation · 2025 · DOI

  • The lack of standardization in procedures for detecting circulating nucleic acids. The need for optimizing detection limits and establishing clinical utility across disease stages. The challenge of developing effective methods for early detection and monitoring of CRC.

    Recent Technologies towards Diagnostic and Therapeutic Applications of Circulating Nucleic Acids in Colorectal Cancers · 2024 · DOI

  • Although these effects have been characterized for selected TFs and mutagenic processes, their prevalence across TFs and cancer types remains poorly understood.

    A pan-cancer catalog of mutagenesis at transcription factor binding sites · 2026 · DOI

  • Cancer genomics studies have widely demonstrated the impact of CIN on tumour genome evolution over a timescale of years, but the acute (daily) impact of CIN as a mutational force in cancer remains poorly explored.

    Chromosomal instability drives continual flux in cancer genomes · 2026 · DOI

  • Despite growing evidence, its clinical utility in urogenital cancers remains insufficiently defined.

    Advancing Precision Oncology: The Role of Molecular and Genetic Markers in Liquid Biopsy for Urogenital Cancers · 2026 · DOI

  • Although previous pan-cancer studies have characterized the molecular landscape of cancer, the effects of individual somatic mutations across different tissues remain insufficiently explored.

    Panorama: a database for the oncogenic evaluation of somatic mutations in pan-cancer · 2026 · DOI

  • While circulating tumor DNA(ctDNA) and circulating tumor cells (CTC) have been widely studied in blood, their role in peritoneal lavage fluid (PLF) remains unexplored.

    Effectiveness of circulating tumor cells and circulating tumor DNA in peritoneal lavage fluid for predicting metachronous peritoneal metastasis of gastric cancer · 2025 · DOI

  • The impact of MTAP alterations in gastrointestinal (GI) cancers remains unknown although hypothetically druggable.

    Clinicopathological characterisation of MTAP alterations in gastrointestinal cancers · 2024 · DOI

  • Research on the distribution and nature of extrachromosomal DNA molecules (EcDNAm) in early LC is scarce.

    The distribution of the extrachromosomal DNA molecules in early lung cancer · 2024 · DOI

  • The detection rate of KRAS mutations in plasma, especially in early lesions, remains unclear, with reports showing a detection rate of approximately 10%5.

    Comprehensive sequencing of circulating tumour DNA in resectable pancreatic cancer · 2024 · DOI

  • While similar strategies have shown favorable early results for specific sarcoma subtypes, LP-WGS has not been evaluated for applicability to the broader population of patients who have a sarcoma.

    Can a Liquid Biopsy Detect Circulating Tumor DNA With Low-passage Whole-genome Sequencing in Patients With a Sarcoma? A Pilot Evaluation · 2024 · DOI

  • Furthermore, it remains unclear whether CIN levels above a certain threshold in BC tumors could adversely affect tumor growth, or if lower to moderate levels of CIN might be associated with a more favorable prognosis for BC patients compared to elevated levels.

    Exploring chromosomal instability and clonal heterogeneity in breast cancer · 2024 · DOI

  • The lack of understanding of the genomic characterization and therapeutic targets in Chinese breast cancer patients. The need to investigate the age-associated germline mutation genes and their therapeutic effects.

    Age-related genomic characterization and therapeutic targets in Chinese breast cancer: insights from prospective targeted sequencing and clinical data analysis · 2026 · DOI

  • The limited understanding of tumor biology and its implications for treatment decisions. The need for a comprehensive review of the literature on tumor biology assessment in colorectal liver metastasis. The gap in current research on the role of genetic mutations and circulating tumor DNA in assessing tumor biology.

    Critical Evaluation of Treatment Response, Driver Mutations, and Circulating Tumor DNA as Markers of Tumor Biology in Colorectal Liver Metastasis · 2026 · DOI

  • Simply knowing a circle is elongated is insufficient; understanding its transcriptional and epigenetic activity is paramount.

    The Circular DNA Size Code · 2026 · DOI

  • The paper discusses the need for more research on the integration of these emerging technologies to address the challenges and limitations associated with their implementation.

    Integrating Artificial Intelligence, Circulating Tumor DNA, and Real-World Evidence to Optimize Hematologic Clinical Trials: Toward Adaptive and Learning Trial Designs · 2026 · DOI

  • Methodological heterogeneity, - Biological and clinical confounders, - Limited attention to variability in urine collection timing, input volume, centrifugation, fractionation, preservation, storage temperature, processing delay, freeze-thaw exposure, extraction chemistry, elution volume, DNA quantification, and downstream…

    Urinary DNA Extraction in Uro-Oncology and Selected Non-Urological Malignancies: A Narrative Review · 2026 · DOI

  • Broader external and prospective validation is required before clinical implementation - Evidence remains insufficient to support routine MRD-guided treatment decisions - Limited actionability of recurrent HCC alterations currently restricts routine treatment-guiding…

    Liquid Biopsy: Past, Present, and Future · 2026 · DOI

  • Use-case-driven development - Prospective utility studies - Longitudinal and multimodal interpretation - Integration with established diagnostic…

    Liquid Biopsy: Past, Present, and Future · 2026 · DOI

  • Further investigation of the therapeutic effects of age-associated germline mutation genes. Development of targeted therapies based on the study's findings.

    Age-related genomic characterization and therapeutic targets in Chinese breast cancer: insights from prospective targeted sequencing and clinical data analysis · 2026 · DOI

  • The transformation of breast cancer diagnostics from a single IHC-based assessment to a multi-omics, longitudinal pipeline is the hallmark of modern precision Gholipour Maralan Egyptian Journal of Medical Human Genetics (2026)…

    The multi-omic transformation of breast cancer diagnostics: a comprehensive narrative of the transition from immunohistochemistry to liquid biopsy and next-generation sequencing · 2026 · DOI

Most-cited papers in Cancer Genomics and Diagnostics

Most recent work

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Open questions raised by papers listed on this page include: (1) There is a need for standardized preanalytical workflows in liquid biopsy testing (“Comparative evaluation of two automated magnetic-bead cfDNA extraction…”, 2026); (2) Although these effects have been characterized for selected TFs and mutagenic processes, their prevalence across TFs and cancer types remains poorly understood (“A pan-cancer catalog of mutagenesis at transcription factor binding sites”, 2026); (3) Although previous pan-cancer studies have characterized the molecular landscape of cancer, the effects of individual somatic mutations across different tissues remain insufficiently explored (“Panorama: a database for the oncogenic evaluation of somatic mutations in…”, 2026); (4) The lack of understanding of the genomic characterization and therapeutic targets in Chinese breast cancer patients (“Age-related genomic characterization and therapeutic targets in Chinese breast…”, 2026); (5) There is a need for a rapid, cost-effective, and high-throughput detection method for KRAS mutations (“Analysis of Colorectal Cancer Gene Mutations and Application of Long Blocker…”, 2025). 720 gap statements have been mined from Cancer Genomics and Diagnostics papers in our 7.9M-paper local library, which holds 3,381 papers on the topic; the gaps come from whichever of those papers state one. They are mostly the research gaps the authors state and the papers' abstracts, plus future-work, limitations and challenges passages. The ones listed below are a selection still marked open; each names the study that raised it, with a DOI link where the paper has one, so you can read the original claim in context.

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