title: Detection of Rare Mutations by Routine Analysis of KRAS, NRAS, and BRAF Oncogenes.
abstract: Molecular genetic analysis of KRAS, NRAS, and BRAF genes was carried out in order to develop an optimal algorithm for detection of minor mutations. We analyzed 35 melanoma and 33 colorectal cancer specimens. Frequent G12D/V/A/C/S mutations were detected in KRAS. The most frequent BRAF mutation in melanoma was V600E, the percentage of rare mutations is significant for DNA diagnosis (24%). Identification of rare BRAF mutations 1790C→G (L597R), 1798_1799delinsAA (V600K), 1798_1799delinsAG (V600R), and 1799_1800delinsAA (V600E) and NRAS mutation 38G→T (G13V) was possible only by Sanger sequencing. The combination of real-time PCR and sequencing can improve analysis sensitivity and ensure concordance of the tested loci with the international recommendations.
authors.affiliation: N. A. Lopatkin Research Institute of Urology and Intervention Radiology, Affiliated Department of National Medical Research Radiological Center, Ministry of Health of the Russian Federation, Moscow, Russia. dimserg@mail.ru.|Research Center for Medical Genetics, Moscow, Russia. dimserg@mail.ru.
authors.forename: D S
authors.initials: DS
authors.lastname: Mikhailenko
authors.affiliation: N. A. Lopatkin Research Institute of Urology and Intervention Radiology, Affiliated Department of National Medical Research Radiological Center, Ministry of Health of the Russian Federation, Moscow, Russia.
authors.forename: G D
authors.initials: GD
authors.lastname: Efremov
authors.affiliation: N. A. Lopatkin Research Institute of Urology and Intervention Radiology, Affiliated Department of National Medical Research Radiological Center, Ministry of Health of the Russian Federation, Moscow, Russia.
authors.forename: N Yu
authors.initials: NY
authors.lastname: Safronova
authors.affiliation: Research Center for Medical Genetics, Moscow, Russia.
authors.forename: V V
authors.initials: VV
authors.lastname: Strelnikov
authors.affiliation: N. A. Lopatkin Research Institute of Urology and Intervention Radiology, Affiliated Department of National Medical Research Radiological Center, Ministry of Health of the Russian Federation, Moscow, Russia.
authors.forename: B Ya
authors.initials: BY
authors.lastname: Alekseev
mesh_terms: D000465:Algorithms; D001483:Base Sequence; D015179:Colorectal Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D004252:DNA Mutational Analysis; D005091:Exons; D020558:GTP Phosphohydrolases / Q000235:genetics*; D006801:Humans; D007438:Introns; D008545:Melanoma / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics; D016612:Paraffin Embedding; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D016283:Proto-Oncogene Proteins p21(ras) / Q000235:genetics*; D060888:Real-Time Polymerase Chain Reaction; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D016707:Tissue Fixation
chemical_list: C117307:KRAS protein, human; D008565:Membrane Proteins; D009363:Neoplasm Proteins; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf; D020558:GTP Phosphohydrolases; C579846:NRAS protein, human; D016283:Proto-Oncogene Proteins p21(ras)
keywords: oncogene; sequencing; somatic mutation