ArticleInternational journal of clinical oncology2018
Characteristics of MUTYH variants in Japanese colorectal polyposis patients.
Article in International journal of clinical oncology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.
- Japanese society for cancer of the colon and rectum (JSCCR) guidelines 2024 for the clinical practice of hereditary colorectal cancer.International journal of clinical oncology · 2026Guideline
- Clinicopathological and genotypic characteristics of colorectal cancer patients carrying a germline MUTYH mutation.Revista da Associacao Medica Brasileira (1992) · 2026Article
- MUTYH and KLF6 gene expression fluctuations in tumor tissue and tumor margins tissues of colorectal cancer.Journal of the Egyptian National Cancer Institute · 2022Article
- MUTYH-associated tumor syndrome: The other face of MAP.Oncogene · 2022Review
- Classification of the canonical splice alterationCold Spring Harbor molecular case studies · 2022Article
- APC germline variant analysis in the adenomatous polyposis phenotype in Japanese patients.International journal of clinical oncology · 2021Article
- Germline Profiling and Molecular Characterization of Early Onset Metastatic Colorectal Cancer.Frontiers in oncology · 2020Article
- Epigenetic profiling of MUTYH, KLF6, WNT1 and KLF4 genes in carcinogenesis and tumorigenesis of colorectal cancer.BioMedicine · 2019Article
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundThe base excision repair gene MUTYH is the causative gene of colorectal polyposis syndrome, which is an autosomal recessive disorder associated with a high risk of colorectal cancer. Since few studies have investigated the genotype-phenotype association in Japanese patients with MUTYH variants, the aim of this study was to clarify the clinicopathological findings in Japanese patients with MUTYH gene variants who were detected by screening causative genes associated with hereditary colorectal polyposis.
methodsAfter obtaining informed consent, genetic testing was performed using target enrichment sequencing of 26 genes, including MUTYH.
resultsOf the 31 Japanese patients with suspected hereditary colorectal polyposis, eight MUTYH variants were detected in five patients. MUTYH hotspot variants known for Caucasians, namely p.G396D and p.Y179D, were not among the detected variants.Of five patients, two with biallelic MUTYH variants were diagnosed with MUTYH-associated polyposis, while two others had monoallelic MUTYH variants. One patient had the p.P18L and p.G25D variants on the same allele; however, supportive data for considering these two variants 'pathogenic' were lacking.
conclusionsTwo patients with biallelic MUTYH variants and two others with monoallelic MUTYH variants were identified among Japanese colorectal polyposis patients. Hotspot variants of the MUTYH gene for Caucasians were not hotspots for Japanese patients.
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