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- Title
Characteristics of <italic>MUTYH</italic> variants in Japanese colorectal polyposis patients.
- Authors
Takao, Misato; Yamaguchi, Tatsuro; Eguchi, Hidetaka; Tada, Yuhki; Kohda, Masakazu; Koizumi, Koichi; Horiguchi, Shin-ichiro; Okazaki, Yasushi; Ishida, Hideyuki
- Abstract
Background: The base excision repair gene <italic>MUTYH</italic> 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 <italic>MUTYH</italic> variants, the aim of this study was to clarify the clinicopathological findings in Japanese patients with <italic>MUTYH</italic> gene variants who were detected by screening causative genes associated with hereditary colorectal polyposis.Methods: After obtaining informed consent, genetic testing was performed using target enrichment sequencing of 26 genes, including <italic>MUTYH</italic>.Results: Of the 31 Japanese patients with suspected hereditary colorectal polyposis, eight <italic>MUTYH</italic> variants were detected in five patients. <italic>MUTYH</italic> hotspot variants known for Caucasians, namely p.G396D and p.Y179D, were not among the detected variants.Of five patients, two with biallelic <italic>MUTYH</italic> variants were diagnosed with <italic>MUTYH</italic>-associated polyposis, while two others had monoallelic <italic>MUTYH</italic> 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.Conclusions: Two patients with biallelic <italic>MUTYH</italic> variants and two others with monoallelic <italic>MUTYH</italic> variants were identified among Japanese colorectal polyposis patients. Hotspot variants of the <italic>MUTYH</italic> gene for Caucasians were not hotspots for Japanese patients.
- Subjects
COLON polyps; DNA repair; JAPANESE people; PHENOTYPES; COLON cancer risk factors; NUCLEOTIDE sequencing; GENETICS; DISEASES
- Publication
International Journal of Clinical Oncology, 2018, Vol 23, Issue 3, p497
- ISSN
1341-9625
- Publication type
Article
- DOI
10.1007/s10147-017-1234-7