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Multiplex Tetra-Primer Amplification Refractory Mutation System PCR to Detect 6 Common Germline Mutations of the MUTYH Gene Associated with Polyposis and Colorectal Cancer
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Background: We describe a simple tetra-primer amplification refractory mutation system PCR (T-ARMS-PCR) for detecting MUTYH mutations, which are associated with colorectal adenomas and colorectal cancer.
Methods: We designed specific T-ARMS-PCR assays for 6 mutations (Y165C, G382D, 1395_7delGGA, Y90X, 1103delC, and R231H) selected on the basis of the frequency of their occurrence. We also designed a set of 3 multiplex T-ARMS PCR assays, each for detection of 2 mutations. We tested DNA samples from patients with attenuated or classic adenomatous polyposis coli and no detectable APC germline ...
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Variable Phenotypic Expression of Identical MYH Germline Mutations in Siblings with Attenuated Familial Adenomatous Polyposis
; Germline mutations in the Mutant-Y-homologue (MYH...case of siblings with identical germline mutations in the MYH gene, one of whom developed...two siblings with identical MYH germline mutations with distinct manifestations of...
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Challenges of Genetic Testing.
; ...testing for somatic cell mutations and germline mutations, because the issues are different...result from the inheritable nature of germline mutations and are complicated by family dynamics...certain groups. Information about germline mutations can have effects beyond just the...
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Detection of APC Gene Deletions Using Quantitative Multiplex PCR of Short Fluorescent Fragments
; ...dominant inherited disease caused by germline mutations in the adenomatosis polyposis coli...third decade of life (1). Truncating germline mutations in the APC gene (5q21-22) are responsible...decade. AFAP is mainly associated with germline mutations at the 5' and 3' ends of the ...
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Challenges of Genetic Testing.(Brief Article)
; ...testing for somatic cell mutations and germline mutations, because the issues are different...result from the inheritable nature of germline mutations, mixed in with the fact that there...certain groups. Information about germline mutations can affect things beyond just the...
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Facing Genetic Testing Fears.(Brief Article)
; ...testing for somatic cell mutations and germline mutations, because the issues are different...results from the inheritable nature of germline mutations, mixed in with the fact that there...certain groups. Information about germline mutations can affect things beyond just the...
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Melanoma genetics needs focus, more research
; ...in 2002 explored the frequency of germline mutations and familial melanoma by geographic...precipitously with age. Predictors Germline mutations such as CDKN2A are predictive of...atypical mole syndrome. The presence of germline mutations such as CDKN2A also is indicative...
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World Scene: Canada
; ...researchers report. A study in mice shows that cigarette smoke caused changes in the DNA of sperm cells, the researchers said in this week's issue of the journal Cancer Research. Such mutations, know as germline mutations, are known to be permanent.
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Tracking melanoma to p16
; ...examined the similarities and differences in somatic and germline mutations and the role UV exposure plays in somatic mutations. This...think it's the alteration of p 16 or its pathway, because germline mutations increase the overall frequency of melanoma." Even though...
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Women with Hereditary Ovarian Cancer Have Longer Survival Rates, Earlier Diagnosis, Memorial Sloan-Kettering Researchers Find
; ...Hereditary Ovarian Cancers Associated with Germline Mutations in BRCA1 or BRCA2." The researchers...ovarian carcinomas, resulting from germline mutations of the BRCA1 and BRCA2 genes, have...consisted of 88 patients with damaging germline mutations and the control group contained ...
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One-Step Analysis of Ten Functional Haplotype Combinations of the Basic RET Promoter with a LightCycler Assay
; ...and Hirschsprung disease (HSCR) (1). In addition to RET germline mutations, associations of several polymorphisms of the RET protooncogene...from a within-gene interaction in patients harboring RET germline mutations (4). We have demonstrated (5) that variants of two RET...
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