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Open research questions in Genetic factors in colorectal cancer

337 gap statements mined from Genetic factors in colorectal cancer papers in our 7.9M-paper local library, which holds 1,159 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

  • The cancer risk for individuals homozygous for the APC I1307K variant is unknown. Published data is based on small sample sizes. There is a need for a large clinical cohort to detect small effect sizes.

    An update on APC I1307K homozygosity: observations from a large multigene panel testing cohort · 2026 · DOI

  • One challenge is the lack of validated bladder cancer-specific criteria for evaluating patients for Lynch syndrome. Another challenge is the limited evidence on the effectiveness of urologic surveillance in patients with Lynch syndrome. The paper also highlights the need for prospective validation of the proposed framework in unselected bladder cancer populations.

    When should bladder cancer prompt evaluation for Lynch syndrome? An evidence-informed clinical framework · 2026 · DOI

  • The study had to deal with a limited sample size of 116 formalin-fixed paraffin-embedded tumoral tissue biopsies. The study had to consider the potential limitations of the multiplex PCR technique used.

    Microsatellite Instability and BAT-26 Marker Expression in a Mexican Prostate Cancer Population with Different Gleason Scores · 2025 · DOI

  • However, the extent to which CRC and adenomas associate with systemic immune signatures against microbes remains unclear.

    Systemic antibody repertoires target specific microbial antigens in patients with colorectal cancer · 2026 · DOI

  • Pathogenic variants in the exonuclease (proofreading) domain of DNA polymerase {varepsilon} (POLE) are frequently detected in colorectal cancers (CRC) with high tumor mutational burden (TMB), yet their functional role in intestinal tumorigenesis remains unknown.

    Inflammation is an essential trigger for POLE-driven ultramutated colorectal cancer · 2026 · DOI

  • Early detection of adenomas is essential for reducing the incidence of CRC; however, effective biomarkers for the adenoma–carcinoma transition are currently lacking.

    The role of SARS1 in the progression of colorectal cancer: insights from clinical data and organoid models · 2026 · DOI

  • SARS1 represents a candidate marker reflecting adenoma-to-carcinoma progression; however, its clinical utility as a diagnostic or prognostic tool requires independent validation in larger, independent, adequately powered cohorts, and its precise functional mechanisms warrant further investigation.

    The role of SARS1 in the progression of colorectal cancer: insights from clinical data and organoid models · 2026 · DOI

  • IMPACT: These findings suggest that incorporating ancestry into screening, trials, and precision oncology may improve equity, though outcome-linked prospective studies and implementation research are warranted.

    The Landscape of Genomic and Socioeconomic Variables in Patients with Colorectal Cancer Based on Genetic Ancestry · 2026 · DOI

  • Although The Cancer Genome Atlas-colon adenocarcinoma (TCGA-COAD) is a widely used dataset, its comparability to other ethnically different populations remains unclear.

    Uniform Processing of Diverse Sequencing Data: A Cross-Population Comparison of Colon Cancer Genomic Landscapes from The Cancer Genome Atlas and a Chinese Cohort · 2026 · DOI

  • Shared mutations indicate a common clonal origin, underscoring the role of established colorectal driver mutations in the early development of these tumours, while the mechanisms underlying NEC differentiation remain poorly understood and may involve non-genetic factors.

    Origin and evolution of colorectal mixed neuroendocrine–non-neuroendocrine neoplasms (MiNEN) · 2026 · DOI

  • Clinical recommendations for I1307K heterozygotes vary across countries and expert groups, reflecting differences in population frequencies, modest risk estimates and limited data in non-AJ individuals.

    APC I1307K and clinical management: insights from UK Biobank association analysis of colorectal and other cancer risks in Ashkenazi and non-Ashkenazi whites · 2025 · DOI

  • Clonal hematopoiesis of indeterminate potential (CHIP) has been shown to be associated with the occurrence of solid tumors, but its relationship with colorectal cancer still needs to be studied.

    Clonal Hematopoiesis of Indeterminate Potential as a Predictor of Colorectal Cancer Risk: Insights from the UK Biobank Cohort · 2025 · DOI

  • SPS is the most prevalent polyposis condition; however, its genetic basis remains poorly characterized.

    Low Yield of Genetic Testing in Serrated Polyposis Syndrome · 2025 · DOI

  • Previous studies have found that the molecular motor Mysoin 5b (MYO5B) is decreased at the level of mRNA in CRC, but the mechanism behind this reduction remains unknown.

    The Molecular Motor Myosin 5B and Its Folding Chaperone UNC45A Are Decreased in Colorectal Cancer · 2025 · DOI

  • Aims Little is known about the molecular features of visible polyps with low-grade intestinal-type dysplasia in patients with inflammatory bowel disease (IBD).

    Molecular profiling of visible polypoid and invisible conventional intestinal-type low-grade dysplasia in patients with idiopathic inflammatory bowel disease · 2024 · DOI

  • Several authors have described an increased frequency of mismatch repair-deficient (dMMR) CRC in sub-Saharan Africa, but these tumours remain poorly characterised molecularly.

    Investigating somatic variants and pathways in mismatch repair-deficient (dMMR) colorectal carcinoma in South Africa · 2024 · DOI

  • Both genetic factors and lifestyle play a critical role in colorectal cancer, but the extent to which an increased genetic risk can be offset by a healthy lifestyle remains unclear.

    Polygenic Risk Score, Healthy Lifestyle Score, and Colorectal Cancer Risk: A Prospective Cohort Study · 2024 · DOI

  • Risk of gastric and small intestinal cancer in Lynch syndrome (LS) remains poorly understood.

    Risk of Gastric and Small Intestinal Cancer in Patients With Lynch Syndrome: Data From a Large, Community-Based US Population · 2024 · DOI

  • Meanwhile, the indications for EP have recently expanded to include ampullary carcinoma limited to the mucosa, which has a low risk of lymph node metastasis, and radiofrequency ablation is a promising option for ampullary adenomas with intraductal lesions that lowers the risk of malignancy while avoiding radical surgery.

    Postendoscopic papillectomy recurrence of familial adenomatous polyposis‐related ampullary adenomas: New or remnant lesions? · 2024 · DOI

  • Inherent selection bias may obscure differences, - Small sample sizes in publicly available population-based cohorts, - Limited size and scope of current case…

    An update on APC I1307K homozygosity: observations from a large multigene panel testing cohort · 2026 · DOI

  • Weitere Forschung zu neoadjuvanter Therapie - Weitere Forschung zu MSI-high/deficient mismatch repair (dMMR) tumors - Weitere Forschung zu microsatellite stable (MSS)/proficient MMR (pMMR)…

    Kurative Therapie des lokal fortgeschrittenen Kolonkarzinoms – multimodale Therapie · 2026 · DOI

  • Die Evidenz für adjuvante Therapie bei älteren Patienten ist eingeschränkt. Die Rolle von ctDNA in der MRD-Diagnostik ist noch nicht vollständig verstanden.

    Kurative Therapie des lokal fortgeschrittenen Kolonkarzinoms – multimodale Therapie · 2026 · DOI

  • The study had a limited sample size of 116 patients, - The diagnostic techniques for MSI may have affected the results, - The study only evaluated the Mexican…

    Microsatellite Instability and BAT-26 Marker Expression in a Mexican Prostate Cancer Population with Different Gleason Scores · 2025 · DOI

  • Ongoing developments in CRC screening include the exploration of novel markers, - The merging of CancerSeek with machine learning software to predict the origin of the primary tumor, - The use of machine learning and artificial intelligence to improve…

    Biomarkers in Colorectal Cancer: Actual and Future Perspectives · 2024 · DOI

  • Reported post-EP recurrence rates vary widely due to differences in definitions.

    Postendoscopic papillectomy recurrence of familial adenomatous polyposis‐related ampullary adenomas: New or remnant lesions? · 2024 · DOI

Most-cited papers in Genetic factors in colorectal cancer

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Open questions raised by papers listed on this page include: (1) The cancer risk for individuals homozygous for the APC I1307K variant is unknown (“An update on APC I1307K homozygosity: observations from a large multigene panel…”, 2026); (2) One challenge is the lack of validated bladder cancer-specific criteria for evaluating patients for Lynch syndrome (“When should bladder cancer prompt evaluation for Lynch syndrome? An…”, 2026); (3) The extent to which CRC and adenomas associate with systemic immune signatures against microbes remains unclear (“Systemic antibody repertoires target specific microbial antigens in patients…”, 2026); (4) Although The Cancer Genome Atlas-colon adenocarcinoma (TCGA-COAD) is a widely used dataset, its comparability to other ethnically different populations remains unclear (“Uniform Processing of Diverse Sequencing Data: A Cross-Population Comparison of…”, 2026); (5) Previous studies have found that the molecular motor Mysoin 5b (MYO5B) is decreased at the level of mRNA in CRC, but the mechanism behind this reduction remains unknown (“The Molecular Motor Myosin 5B and Its Folding Chaperone UNC45A Are Decreased in…”, 2025). 337 gap statements have been mined from Genetic factors in colorectal cancer papers in our 7.9M-paper local library, which holds 1,159 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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