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Mutation analysis of MUTYH in Japanese colorectal adenomatous polyposis patients
Keiko Taki1,2, Yuri Sato1, Sachio Nomura1,3
1Clinical Genetic Oncology, Cancer Institute Hospital of Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku, Tokyo, 135-8550, Japan.
Abstract:
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.
Insights
The MUTYH IVS10-2A>G heterozygote mutation may increase the risk of developing polyposis in patients without adenomatous polyposis coli (APC) gene mutations. This finding suggests a potential role for MUTYH in colorectal cancer development.
Area of Science:
- Genetics
- Oncology
- Gastroenterology
Background:
- Germline mutations in the MUTYH gene are associated with MUTYH-associated polyposis (MAP).
- Familial adenomatous polyposis (FAP) is primarily caused by germline mutations in the adenomatous polyposis coli (APC) gene.
- MAP typically presents with later onset compared to FAP.
Purpose of the Study:
- To investigate the frequency of the MUTYH IVS10-2A>G heterozygote mutation in Japanese colorectal polyposis patients lacking germline APC mutations.
- To compare this frequency with that in an age- and sex-matched control group.
Main Methods:
- Genomic DNA analysis was performed on 14 Japanese patients with colorectal polyposis and no identified germline APC mutations.
- Three patients were found to carry the heterozygous IVS10-2A>G MUTYH mutation.
- Carrier frequency was compared between polyposis patients and 115 controls over 70 years old using a Chi-square test.
Main Results:
- The heterozygous IVS10-2A>G MUTYH mutation was identified in three of the 14 patients.
- The frequency of the IVS10-2A>G heterozygote was significantly higher in APC mutation-negative polyposis patients compared to controls (p = 0.012).
Conclusions:
- The IVS10-2A>G MUTYH heterozygote may contribute to the risk of developing polyposis in individuals without germline APC mutations.
- Further studies with larger sample sizes are warranted to confirm this association and elucidate the underlying mechanisms.
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