ArticleInvestigational new drugs2020
Efficacy of immune checkpoint blockade in MUTYH-associated hereditary colorectal cancer.
Article in Investigational new drugs, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 32 citations in OpenAlex.
- KRAS-G12C: The neglected biomarker to detect patients with MUTYH-associated polyposis.International journal of cancer · 2026Article
- Multiparametric magnetic resonance imaging-based predictive model for chemotherapy response in colorectal cancer patients with gene mutations.World journal of gastrointestinal oncology · 2025Article
- Genetics, genomics and clinical features of adenomatous polyposis.Familial cancer · 2025Review
- Overview on biomarkers for immune oncology drugs.Exploration of targeted anti-tumor therapy · 2025Review
- Precision Medicine in the Era of Genetic Testing: Microsatellite Instability Evolved.Clinics in colon and rectal surgery · 2024Review
- Agnostic Administration of Targeted Anticancer Drugs: Looking for a Balance between Hype and Caution.International journal of molecular sciences · 2024Review
- Increased KRAS G12C Prevalence, High Tumor Mutational Burden, and Specific Mutational Signatures Are Associated With MUTYH Mutations: A Pan-Cancer Analysis.The oncologist · 2024Article
- Review
- Hereditary cancer syndromes.World journal of clinical oncology · 2023Review
- MUTYH-associated tumor syndrome: The other face of MAP.Oncogene · 2022Review
- Molecular testing for colorectal cancer: Clinical applications.World journal of gastrointestinal oncology · 2021Review
- Cancer Therapy Guided by Mutation Tests: Current Status and Perspectives.International journal of molecular sciences · 2021Review
- Review
- Article
- Review
- The Mechanism of Stimulating and Mobilizing the Immune System Enhancing the Anti-Tumor Immunity.Frontiers in immunology · 2021Review
- Clinical case of the neoadjuvant treatment with nivolumab in a patient with microsatellite unstable (MSI-H) locally advanced gastric cancer.BMJ case reports · 2020Article
- Complete Response to Immunotherapy in a Patient withCase reports in oncologyArticle
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Colorectal carcinomas (CRCs) caused by hereditary biallelic MUTYH gene mutations are characterized by elevated mutation load and high lymphocyte infiltration. Given that these tumor features are associated with the response to immune checkpoint inhibitors, we administered nivolumab to a CRC patient who carried two inactive MUTYH alleles (p.Y179C and p.G396D) and previously experienced failure of chemotherapy. This experimental treatment resulted in a pronounced tumor response. We further compared tumor lymphocyte infiltration in MUTYH-associated (n = 3), high-level microsatellite instability (MSI-H, n = 8) and microsatellite stable (MSS, n = 6) CRCs. Both MUTYH-driven and MSI-H CRCs showed noticeably higher lymphocyte densities than those of microsatellite stable tumors; this difference reached the level of statistical significance for the comparison of central areas of the tumors (p = 0.02 and 0.03, respectively) but not for the invasive tumor margins. Although MUTYH-associated tumors are exceptionally rare among unselected CRC cases, their share in CRC patients with somatic KRAS p.G12C substitution approaches 5-25%. These observations provide a rationale for further evaluation of the efficacy of the immune checkpoint blockade in MUTYH-driven CRC.
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