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Impaired 8-Hydroxyguanine Repair Activity of MUTYH Variant p.Arg109Trp Found in a Japanese Patient with Early-Onset Colorectal Cancer
المؤلفون المشاركون
Kono, Suminori
Sugimura, Haruhiko
Shinmura, Kazuya
Kato, Hisami
Nakamura, Satoki
Goto, Masanori
Tao, Hong
Suzuki, Rie
Matsuda, Tomonari
Yin, Guang
Morita, Makiko
المصدر
Oxidative Medicine and Cellular Longevity
العدد
المجلد 2014، العدد 2014 (31 ديسمبر/كانون الأول 2014)، ص ص. 1-12، 12ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2014-03-05
دولة النشر
مصر
عدد الصفحات
12
التخصصات الرئيسية
الملخص EN
Purpose.
The biallelic inactivation of the 8-hydroxyguanine repair gene MUTYH leads to MUTYH-associated polyposis (MAP), which is characterized by colorectal multiple polyps and carcinoma(s).
However, only limited information regarding MAP in the Japanese population is presently available.
Since early-onset colorectal cancer (CRC) is a characteristic of MAP and might be caused by the inactivation of another 8-hydroxyguanine repair gene, OGG1, we investigated whether germline MUTYH and OGG1 mutations are involved in early-onset CRC in Japanese patients.
Methods.
Thirty-four Japanese patients with early-onset CRC were examined for germline MUTYH and OGG1 mutations using sequencing.
Results.
Biallelic pathogenic mutations were not found in any of the patients; however, a heterozygous p.Arg19* MUTYH variant and a heterozygous p.Arg109Trp MUTYH variant were detected in one patient each.
The p.Arg19* and p.Arg109Trp corresponded to p.Arg5* and p.Arg81Trp, respectively, in the type 2 nuclear-form protein.
The defective DNA repair activity of p.Arg5* is apparent, while that of p.Arg81Trp has been demonstrated using DNA cleavage and supF forward mutation assays.
Conclusion.
These results suggest that biallelic MUTYH or OGG1 pathogenic mutations are rare in Japanese patients with early-onset CRC; however, the p.Arg19* and p.Arg109Trp MUTYH variants are associated with functional impairments.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Shinmura, Kazuya& Goto, Masanori& Tao, Hong& Kato, Hisami& Suzuki, Rie& Nakamura, Satoki…[et al.]. 2014. Impaired 8-Hydroxyguanine Repair Activity of MUTYH Variant p.Arg109Trp Found in a Japanese Patient with Early-Onset Colorectal Cancer. Oxidative Medicine and Cellular Longevity،Vol. 2014, no. 2014, pp.1-12.
https://search.emarefa.net/detail/BIM-1047068
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Shinmura, Kazuya…[et al.]. Impaired 8-Hydroxyguanine Repair Activity of MUTYH Variant p.Arg109Trp Found in a Japanese Patient with Early-Onset Colorectal Cancer. Oxidative Medicine and Cellular Longevity No. 2014 (Dec. 2014), pp.1-12.
https://search.emarefa.net/detail/BIM-1047068
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Shinmura, Kazuya& Goto, Masanori& Tao, Hong& Kato, Hisami& Suzuki, Rie& Nakamura, Satoki…[et al.]. Impaired 8-Hydroxyguanine Repair Activity of MUTYH Variant p.Arg109Trp Found in a Japanese Patient with Early-Onset Colorectal Cancer. Oxidative Medicine and Cellular Longevity. 2014. Vol. 2014, no. 2014, pp.1-12.
https://search.emarefa.net/detail/BIM-1047068
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1047068
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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