NDLI: High-resolution melting analysis for rapid screening of and Spanish mutations

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High-resolution melting analysis for rapid screening of and Spanish mutations

Content Provider	Hyper Articles en Ligne (HAL)
Author	Juan, Inmaculada Esteban, Eva Palanca, Sarai Barragán, Eva Bolufer, Pascual
Abstract	The majority of and mutation detection procedures include screening methods, all of which are time-consuming. High-resolution melting (HRM) is a promising pre-screening method of gene scanning that combines simplicity and rapid identification of genetic variants. We evaluated HRM in the screening of / Spanish mutations. We studied 40 and 47 DNA samples with different Spanish mutations. We included a group of 20 unknown DNAs from patients with sporadic breast cancer (BC). The assay was performed with the LightCycler 480 Instrument (Roche). The HRM discriminates all the Spanish mutations studied from wild-type DNA. Besides, 54 out of 87 mutations were clearly differentiated from each other. In sporadic BC 11 polymorphisms and three unclassified variants were found in both genes. HRM is a valuable method for rapid screening of Spanish mutations and is capable of differentiating new genetic variants in PCR products.
Related Links	https://hal.science/hal-00478235/file/PEER_stage2_10.1007%252Fs10549-008-0073-7.pdf
ISSN	01676806
e-ISSN	15737217
DOI	10.1007/s10549-008-0073-7
Issue Number	2
Volume Number	115
Conference Proceedings	Breast Cancer Research and Treatment
Language	English
Publisher	HAL CCSD Springer Verlag
Publisher Date	2008-06-05
Access Restriction	Open
Subject Keyword	Screening Mutations Hereditary breast and ovarian cancer High-resolution melting
Content Type	Text
Resource Type	Conference Proceedings
Subject	Cancer Research Oncology

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