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

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 analys...

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Published in:	Medical oncology (Northwood, London, England) Vol. 30; no. 3; p. 686
Main Authors:	Yanus, Grigoriy A., Belyaeva, Anna V., Ivantsov, Alexandr O., Kuligina, Ekatherina Sh, Suspitsin, Evgeny N., Mitiushkina, Natalia V., Aleksakhina, Svetlana N., Iyevleva, Aglaya G., Zaitseva, Olga A., Yatsuk, Olga S., Gorodnova, Tatiana V., Strelkova, Tatiana N., Efremova, Sofia A., Lepenchuk, Alla Yu, Ochir-Garyaev, Altn N., Paneyah, Moisey B., Matsko, Dmitriy E., Togo, Alexandr V., Imyanitov, Evgeny N.
Format:	Journal Article
Language:	English
Published:	Boston Springer US 01-09-2013 Springer Nature B.V
Subjects:	Class I Phosphatidylinositol 3-Kinases Codon Colorectal cancer Colorectal Neoplasms - genetics Colorectal Neoplasms - pathology Gene Frequency - genetics GTP Phosphohydrolases - genetics Hematology Humans Internal Medicine Medicine Medicine & Public Health Membrane Proteins - genetics Microsatellite Instability Mutation - genetics Oncology Original Paper Pathology Phosphatidylinositol 3-Kinases - genetics Proto-Oncogene Proteins - genetics Proto-Oncogene Proteins B-raf - genetics Proto-Oncogene Proteins p21(ras) ras Proteins - genetics Retrospective Studies Russia NRAS KRAS BRAF Microsatellite instability PIK3CA Colorectal cancer
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Summary:	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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1357-0560 1559-131X
DOI:	10.1007/s12032-013-0686-5