Mutation analysis of MUTYH in Japanese colorectal adenomatous polyposis patients
| Autor: | Keiko Taki, Masami Arai, Sachio Nomura, Kokichi Sugano, Yuri Sato, Ikufumi Tajima, Yuumi Ashihara, Mizuho Kita |
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| Rok vydání: | 2015 |
| Předmět: |
Male
0301 basic medicine Heterozygote Cancer Research Adenomatous polyposis coli Adenomatous Polyposis Coli Protein DNA Mutational Analysis Colorectal polyposis Gene mutation Germline DNA Glycosylases Familial adenomatous polyposis 03 medical and health sciences 0302 clinical medicine Germline mutation Asian People MUTYH Genetics Humans Medicine Genetic Predisposition to Disease Germ-Line Mutation Genetics (clinical) Aged biology business.industry MUTYH-Associated Polyposis medicine.disease 030104 developmental biology Adenomatous Polyposis Coli Oncology Case-Control Studies 030220 oncology & carcinogenesis Mutation biology.protein Cancer research Female business |
| Zdroj: | Familial Cancer. 15:261-265 |
| ISSN: | 1573-7292 1389-9600 |
| DOI: | 10.1007/s10689-015-9857-1 |
| Popis: | Germline MUTYH mutations were investigated in 14 Japanese colorectal polyposis patients without germ line adenomatous polyposis coli (APC) gene mutations. Three patients had a heterozygous IVS10-2A>G MUTYH mutation. The onset of MUTYH-associated polyposis (MAP) occurs later than that of familial adenomatous polyposis with germline APC mutation. Thus, we compared the carrier frequency of MUTYH IVS10-2A>G heterozygote in the APC mutation negative cases with that in 115 controls over 70 years of age who showed no apparent clinical manifestations of cancer and claimed that they had no history of cancer at the time of enrollment. The frequency of IVS10-2A>G heterozygote in APC germline mutation negative polyposis patients was significantly higher than control subject (p = 0.012, Chi square test). Although the sample size is still too small to conclude, the IVS10-2A>G MUTYH heterozygote might add to the risk of developing germline APC mutation negative polyposis. |
| Databáze: | OpenAIRE |
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