High-resolution melting analysis (HRMA) provides a valid approach to efficiently detect DNA genetic and somatic mutations. In this study, HRMA was used for the screening of 116 colorectal cancers (CRCs) to detect hot-spot mutations in the KRAS and BRAF oncogenes. Mutational hot spots on the PIK3CA gene, exons 9 and 20, were also screened. Direct sequencing was used to confirm and characterize HRMA results. HRMA revealed abnormal melting profiles in 65 CRCs (56.0%), 16 of them harboring mutations in 2 different genes simultaneously. The frequency of mutations was 17.2% for PIK3CA (11.2% in exon 9 and 6.0% in exon 20), 43.1% for KRAS exon 2, and 9.5% in exon 15 of the BRAF gene. We found a significant association between PIK3CA and KRAS mutations (P = .008), whereas KRAS and BRAF mutations were mutually exclusive (P = .001). This report describes a novel approach for the detection of PIK3CA somatic mutations by HRMA.

High-resolution melting analysis for rapid detection of KRAS, BRAF, and PIK3CA gene mutations in colorectal cancer / Lisa Simi; Nicola Pratesi; Marina Vignoli; Roberta Sestini; Fabio Cianchi; Rosa Valanzano; Stefania Nobili; Enrico Mini; Mario Pazzagli; Claudio Orlando. - In: AMERICAN JOURNAL OF CLINICAL PATHOLOGY. - ISSN 0002-9173. - STAMPA. - 130:(2008), pp. 247-253. [10.1309/LWDY1AXHXUULNVHQ]

High-resolution melting analysis for rapid detection of KRAS, BRAF, and PIK3CA gene mutations in colorectal cancer.

SIMI, LISA;SESTINI, ROBERTA;CIANCHI, FABIO;VALANZANO, ROSA;NOBILI, STEFANIA;MINI, ENRICO;PAZZAGLI, MARIO;ORLANDO, CLAUDIO
2008

Abstract

High-resolution melting analysis (HRMA) provides a valid approach to efficiently detect DNA genetic and somatic mutations. In this study, HRMA was used for the screening of 116 colorectal cancers (CRCs) to detect hot-spot mutations in the KRAS and BRAF oncogenes. Mutational hot spots on the PIK3CA gene, exons 9 and 20, were also screened. Direct sequencing was used to confirm and characterize HRMA results. HRMA revealed abnormal melting profiles in 65 CRCs (56.0%), 16 of them harboring mutations in 2 different genes simultaneously. The frequency of mutations was 17.2% for PIK3CA (11.2% in exon 9 and 6.0% in exon 20), 43.1% for KRAS exon 2, and 9.5% in exon 15 of the BRAF gene. We found a significant association between PIK3CA and KRAS mutations (P = .008), whereas KRAS and BRAF mutations were mutually exclusive (P = .001). This report describes a novel approach for the detection of PIK3CA somatic mutations by HRMA.
2008
130
247
253
Lisa Simi; Nicola Pratesi; Marina Vignoli; Roberta Sestini; Fabio Cianchi; Rosa Valanzano; Stefania Nobili; Enrico Mini; Mario Pazzagli; Claudio Orlando
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/336862
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