ISSN:
1573-2568
Keywords:
COLORECTAL POLYP
;
MICROSATELLITE INSTABILITY
;
HEREDITARY NONPOLYPOSIS COLORECTALCANCER
;
MISMATCH REPAIR GENE
;
TRANSFORMING GROWTH FACTOR-β TYPE IIRECEPTOR
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract Mutations in the transforming growthfactor-β type II receptor (RII) gene that remainuncorrected due to mutation and inactivation of mismatchrepair genes play an important role in hereditarynonpolyposis colorectal cancer (HNPCC) and in a subset ofsporadic colorectal cancers. Some colorectal cancersdevelop from colorectal polyps. To elucidate the role ofthe RII gene in the generation of colorectal polyps, we analyzed 137 colorectal polyps from 100patients for RII mutations and microsatelliteinstability (MSI). MSI was detected in three of 36polyps from 25 patients. For one of these three polyps,the mobilities of the PCR products between polyp and nonpolyptissues was different for only one microsatellitemarker, and for the other two polyps the mobilities weredifferent for more than two markers. These two polyps were obtained from one patient with ascendingcolon carcinoma and suspected HNPCC based on hisclinical profile and family history. An RII mutation wasdetected in only one of these two polyps. RII may play a minor role in sporadic colorectalpolyps. RII gene analysis in colorectal polyps may be auseful screening measure for potential HNPCCpatients.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1023/A:1018834404570
