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Medline ® Abstract for Reference 134

of '结直肠癌的分子遗传学'

134
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MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps.
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Wang L, Baudhuin LM, Boardman LA, Steenblock KJ, Petersen GM, Halling KC, French AJ, Johnson RA, Burgart LJ, Rabe K, Lindor NM, Thibodeau SN
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Gastroenterology. 2004;127(1):9.
 
BACKGROUND&AIMS: MYH-associated polyposis is a recently described disease that is characterized by multiple colorectal adenomas and a recessive pattern of inheritance. Individuals with MYH-associated polyposis have biallelic mutations in MYH, a base excision repair gene, and are negative for germline mutations in the APC gene. In this study, the 2 most prevalent MYH mutations in white persons, Y165C and G382D, were analyzed for their presence in 984 subjects selected from 3 groups: 400 undergoing screening colonoscopy and found to have 0-3 polyps, 444 with colorectal cancer (CRC), and 140 referred for APC mutation analysis in which a germline mutation was not identified.
METHODS: Genotyping for Y165C and G382D was performed by Pyrosequencing.
RESULTS: Biallelic mutations for Y165C and/or G382D were not found in any of those undergoing screening colonoscopy with 0-3 polyps (n = 400), in those APC-negative patients with<20 adenomatous polyps (n = 26), or in those with CRC who were older than 50 years (n= 328). Furthermore, these 2 MYH mutations were not found among patients whose tumors showed the presence of defective DNA mismatch repair (n = 62). However, the presence of biallelic germline MYH mutations correlated with the presence of>or=20 adenomatous polyps. Interestingly, 2 of the 116 individuals with CRC diagnosed at 50 years of age or younger also presented with biallelic germline mutations in MYH.
CONCLUSIONS: These data suggest that screening of MYH should be considered not only in patients with multiple polyps but also in patients with early-onset CRC.
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Department of Laboratory Medicine, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA.
PMID