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Erschienen in: Medical Oncology 3/2013

01.09.2013 | Original Paper

Pattern of clinically relevant mutations in consecutive series of Russian colorectal cancer patients

verfasst von: Grigoriy A. Yanus, Anna V. Belyaeva, Alexandr O. Ivantsov, Ekatherina Sh. Kuligina, Evgeny N. Suspitsin, Natalia V. Mitiushkina, Svetlana N. Aleksakhina, Aglaya G. Iyevleva, Olga A. Zaitseva, Olga S. Yatsuk, Tatiana V. Gorodnova, Tatiana N. Strelkova, Sofia A. Efremova, Alla Yu. Lepenchuk, Altn N. Ochir-Garyaev, Moisey B. Paneyah, Dmitriy E. Matsko, Alexandr V. Togo, Evgeny N. Imyanitov

Erschienen in: Medical Oncology | Ausgabe 3/2013

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Abstract

One hundred and ninety-five consecutive surgically treated Russian colorectal cancer (CRC) patients were retrospectively analyzed for the presence of mutations in KRAS, NRAS, BRAF and PIK3CA genes as well as for the microsatellite instability status. Comparison between high-resolution melting analysis, co-amplification at lower denaturation temperature PCR, DNA sequencing and allele-specific PCR for the detection of KRAS codon 12/13 mutations revealed that none of these methods alone provided satisfactory results in 100 % of the analyzed cases; this experience supports the use of more than one mutation-detecting technique at least in some circumstances. KRAS codon 12/13 substitutions were detected in 70 (35.9 %) CRC cases. Other mutations in the RAS/RAF genes occurred in 22 (11.3 %) cases and included rare KRAS (n = 6), NRAS (n = 8) and BRAF (n = 8) alterations. 5 BRAF mutations affected codon 600, while the remaining 3 potentially functional substitutions were located in the position 594. Twenty-four (12.3 %) CRC cases carried mutations in the PIK3CA, and 18 of these tumors also contained activating alteration in the RAS/RAF genes (p = 0.007). Only 3 (1.5 %) CRC cases showed high-level microsatellite instability (MSI-H) as determined by a panel of mononucleotide markers. Overall, the distribution of potentially predictive mutations in Russian CRC cases is similar to the one observed in other patient series of European descent. Noticeable occurrence of D594G mutation in BRAF oncogene and low frequency of MSI-H may deserve specific attention.
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Metadaten
Titel
Pattern of clinically relevant mutations in consecutive series of Russian colorectal cancer patients
verfasst von
Grigoriy A. Yanus
Anna V. Belyaeva
Alexandr O. Ivantsov
Ekatherina Sh. Kuligina
Evgeny N. Suspitsin
Natalia V. Mitiushkina
Svetlana N. Aleksakhina
Aglaya G. Iyevleva
Olga A. Zaitseva
Olga S. Yatsuk
Tatiana V. Gorodnova
Tatiana N. Strelkova
Sofia A. Efremova
Alla Yu. Lepenchuk
Altn N. Ochir-Garyaev
Moisey B. Paneyah
Dmitriy E. Matsko
Alexandr V. Togo
Evgeny N. Imyanitov
Publikationsdatum
01.09.2013
Verlag
Springer US
Erschienen in
Medical Oncology / Ausgabe 3/2013
Print ISSN: 1357-0560
Elektronische ISSN: 1559-131X
DOI
https://doi.org/10.1007/s12032-013-0686-5

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