MUTYH


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AcronymDefinition
MUTYHmutY Homolog (E. coli)
References in periodicals archive ?
2 December 2013 - US genetic diagnostics firm Invitae Corp said Monday it had filed a lawsuit against Myriad Genetics Inc (NASDAQ:MYGN), claiming the latter's patents on the BRCA1/2 and MUTYH genes are invalid and are not infringed by the plaintiff.
A very small percentage of chromosomal instability tumors are inherited and arise secondary to germline mutations in the APC gene (familial adenomatous polyposis; less than 1% of CRCs) or the MUTYH gene (MUTYH-associated polyposis; <1% of CRCs).
In some cases, AFAP is associated with biallelic germline mutations in the base-excision repair gene MUTYH [(or MYH) mutt homolog (Escherichia coli)] showing an autosomal recessive pattern (5).
We adapted this technique for the study of copy number alterations in the APC gene in a series of unrelated FAP patients with no previously detected point mutation of the APC or MUTYH genes.
Semiautomated sequencing of the entire coding region of APC and analysis of the 2 most prevalent MUTYH gene mutations (G382D and Y165C) revealed pathogenic mutations in the APC or MUTYH genes in 76 families (62 classic and 14 AFAP).
09) years] than APC/ MUTYH mutation-negative index cases [36.
Multiplex tetraprimer amplification refractory mutation system PCR to detect 6 common germline mutations of the MUTYH gene associated with polyposis and colorectal cancer.
MUTYH-associated polyposis (MAP) is an autosomal recessive syndrome associated with biallelic germline mutations in the base excision repair gene MUTYH (OMIM #608456) (1).
At least 23 different putative pathogenic mutations have been identified as widespread in the MUTYH gene (9).
The identification of germline mutations in both MUTYH alleles in patients with multiple colorectal adenomas or colorectal cancer has clinical relevance because their siblings may also have a very high risk of cancer.