Mazurenko N N, Gagarin I M, Tsyganova I V, Mochal'nikova V V, Breder V V
Vopr Onkol. 2013;59(6):751-5.
KRAS mutations in patients with metastatic colorectal cancer (CRC) are a negative marker of the effectiveness of anti-EGFR therapy and have prognostic significance. KRAS genotyping was performed in the material from patients with metastatic CRC. KRAS mutations were determined in tumor DNA from archival biopsies of 573 patients using PCR and sequencing. Mutations in the exon 2 of the KRAS gene were detected in 36.3% of cases of CRC, while often in women (41.1%) than in men (31.2%). There were identified eight types of KRAS mutations, the most frequent--replacement of G12D (33.7%), G12V (32.7%) and G13D (12.5%). There were revealed differences in the frequency and spectrum of KRAS mutations in CRC of various locations; in tumors of the rectum dominated mutation G12V (39%). The Russian CRC patients find out a higher frequency of mutations G12V and a lower frequency of mutations G13D, than patients from Europe and it should be taken into account when assessing the response of CRC patients with different mutant KRAS status on chemotherapy and targeted therapy.
转移性结直肠癌（CRC）患者中的KRAS突变是抗表皮生长因子受体（EGFR）治疗有效性的阴性标志物，且具有预后意义。对转移性CRC患者的样本进行了KRAS基因分型。采用聚合酶链反应（PCR）和测序技术，在573例患者存档活检的肿瘤DNA中检测KRAS突变。在36.3%的CRC病例中检测到KRAS基因第2外显子的突变，女性（41.1%）的突变率高于男性（31.2%）。共鉴定出8种KRAS突变类型，最常见的是G12D（33.7%）、G12V（32.7%）和G13D（12.5%）的替换。不同部位的CRC中KRAS突变的频率和谱存在差异；直肠肿瘤中G12V突变占主导（39%）。与欧洲患者相比，俄罗斯CRC患者中G12V突变频率较高，G13D突变频率较低，在评估不同KRAS突变状态的CRC患者对化疗和靶向治疗的反应时应予以考虑。
