Multiplex tetra-primer amplification refractory mutation system PCR to detect 6 common germline mutations of the MUTYH gene associated with polyposis and colorectal cancer (Articolo in rivista)

Type

• Prodotto della ricerca (Classe)
• Articolo in rivista (Classe)

Label

• Multiplex tetra-primer amplification refractory mutation system PCR to detect 6 common germline mutations of the MUTYH gene associated with polyposis and colorectal cancer (Articolo in rivista) (literal)

Anno

• 2006-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1373/clinchem.2005.060137 (literal)

Alternative label

• Piccioli P; Serra M; Gismondi V; Pedemonte S; Loiacono F; Lastraioli S; Bertario L; De Angioletti M; Varesco L; Notaro R. (2006)
  Multiplex tetra-primer amplification refractory mutation system PCR to detect 6 common germline mutations of the MUTYH gene associated with polyposis and colorectal cancer
  in Clinical chemistry (Baltim. Md.)
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Piccioli P; Serra M; Gismondi V; Pedemonte S; Loiacono F; Lastraioli S; Bertario L; De Angioletti M; Varesco L; Notaro R. (literal)

Pagina inizio

• 739 (literal)

Pagina fine

• 743 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 52 (literal)

Rivista

• Clinical chemistry (Rivista)

Note

• ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• Laboratory of Human Genetics, Medical Oncology C, and Hereditary Tumors Unit, IST, Istituto Nazionale per la Ricerca sul Cancro, Genoa, Italy; Preventive-Predictive Medicine Unit, Istituto Nazionale Tumori, Milan, Italy; Istituto di Genetica e Biofisica \"Adriano Buzzati Traverso\", Consiglio Nazionale delle Ricerche, Naples, Italy (literal)

Titolo

• Multiplex tetra-primer amplification refractory mutation system PCR to detect 6 common germline mutations of the MUTYH gene associated with polyposis and colorectal cancer (literal)

Abstract

• 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 mutations. Results: All mutations were easily detected with both the specific and multiplex T-ARMS-PCR assays. Results were confirmed by DNA HPLC analysis in all 54 patients, and each mutation was confirmed by direct DNA sequencing. Conclusions: T-ARMS-PCR does not require any special equipment, and it provides rapid, reproducible, and cost-effective detection of common MUTYH mutations. Multiplex T-ARMS-PCR allows the detection of 6 common MUTYH mutations with use of as few as 3 single tube PCR reactions. It could be useful to carry out large population-based epidemiologic studies. (literal)

Prodotto di

• Institute of genetics and biophysics \"Adriano Buzzati Traverso\" (IGB) (Istituto)
• Approccio multidisciplinare per la definizione di networks molecolari regolanti tratti ad eredità mendeliana e multifattoriale (SV.P18.005.002) (Modulo)

Autore CNR

• MARIA DE ANGIOLETTI (Persona)

Incoming links:

Prodotto

• Institute of genetics and biophysics \"Adriano Buzzati Traverso\" (IGB) (Istituto)
• Approccio multidisciplinare per la definizione di networks molecolari regolanti tratti ad eredità mendeliana e multifattoriale (SV.P18.005.002) (Modulo)

Autore CNR di

• MARIA DE ANGIOLETTI (Persona)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Clinical chemistry (Rivista)