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[结直肠癌中的KRAS基因突变]

[KRAS gene mutation in colorectal cancer].

作者信息

Roa Iván, Sánchez Tamara, Majlis Alejandro, Schalper Kurt

出版信息

Rev Med Chil. 2013 Sep;141(9):1166-72. doi: 10.4067/S0034-98872013000900009.

Abstract

BACKGROUND

KRAS oncogene is involved in colorectal carcinogenesis in 22 to 45% of cases.

AIM

To determine the frequency, types and distribution of KRAS mutations in colorectal cancer.

MATERIAL AND METHODS

KRAS mutations studies were carried out in primary tumors and metastases of colo-rectal cancer from 56 women aged 60 ± 14 years and 53 men aged 61 ± 11 years. Formalin fixed and paraffin embedded tissue samples were evaluated using RFLP (Restriction Fragment Length Polymorphism) and direct sequencing.

RESULTS

Primary tumors were located in the colon and rectum in 82 (75.2%) and 24 cases (20%), respectively. In three cases the extraction site of the tumor sample was unknown. In 46 cases (42.2%) KRAS mutations were demonstrated. The main point mutations were located in codon 12 (80.4%), G12D (39.1%), G12V (24.2%), G12S (6.5%), G12A (4.3%); G12C (4.3%), G12R (2.1%) and 19.6% at codon 13 (G13D). No differences were demonstrated in the frequency and distribution of mutations by gender, age, primary versus metastatic tumors or tumor location.

CONCLUSIONS

In this series, 42% of colorectal cancer tissue samples had KRAS mutations. Their frequency and distribution are similar to those reported in the literature, except for G12C mutation.

摘要

背景

KRAS癌基因在22%至45%的结直肠癌病例中参与致癌过程。

目的

确定结直肠癌中KRAS突变的频率、类型和分布。

材料与方法

对56名年龄为60±14岁的女性和53名年龄为61±11岁的男性的结直肠癌原发肿瘤和转移灶进行KRAS突变研究。使用限制性片段长度多态性(RFLP)和直接测序对福尔马林固定石蜡包埋的组织样本进行评估。

结果

原发肿瘤分别位于结肠82例(75.2%)和直肠24例(20%)。3例肿瘤样本的取材部位不明。46例(42.2%)显示有KRAS突变。主要点突变位于密码子12(80.4%),G12D(39.1%),G12V(24.2%),G12S(6.5%),G12A(4.3%);G12C(4.3%),G12R(2.1%),密码子13(G13D)处为19.6%。在突变的频率和分布上,未显示出性别、年龄、原发肿瘤与转移瘤或肿瘤部位之间存在差异。

结论

在本系列研究中,42%的结直肠癌组织样本存在KRAS突变。除G12C突变外,其频率和分布与文献报道相似。

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