Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations.
Int J Cancer
; 116(1): 73-7, 2005 Aug 10.
Article
em En
| MEDLINE
| ID: mdl-15761860
ABSTRACT
The MYH gene has recently been shown to be associated with a recessive form of colorectal adenomatous polyposis. Two common mutations in the MYH gene have been identified that lend themselves to rapid screening. We have examined a series of 302 individuals comprising 120 control subjects, 120 patients diagnosed with adenomatous polyposis but without germline mutations in the APC gene and 62 patients diagnosed with familial adenomatous polyposis all harbouring confirmed causative APC germline mutations. The results reveal that MYH accounts for 16 percent of polyposis patients without germline mutations in the APC gene and that it does not appear to be a modifier gene in FAP patients diagnosed with APC germline mutations.
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Base de dados:
MEDLINE
Assunto principal:
Genes APC
/
Polipose Adenomatosa do Colo
Limite:
Adult
/
Aged
/
Child, preschool
/
Female
/
Humans
/
Male
/
Middle aged
País como assunto:
Oceania
Idioma:
En
Ano de publicação:
2005
Tipo de documento:
Article