An Hee Jung, Kim Nam Keun, Oh Doyeun, Kim Sae Hyun, Park Min Jung, Jung Moon Young, Kang Haeyoun, Kim Seung Gi, Lee Kyung Po, Lee Kyung Sik
Department of Pathology, Pochon CHA University, 351 Yatapdong Bundang-gu, Sungnam, Kyonggi-do 463-712, South Korea.
Pathol Int. 2005 Feb;55(2):48-52. doi: 10.1111/j.1440-1827.2005.01789.x.
The amplification and overexpression of Her2 proto-oncogene have been found to be associated with the development and progression of human breast cancer. A polymorphic valine allele at codon 655 of the Her2 gene (Her2(V655)) was suggested by some authors to be a susceptible genetic factor for the development of breast cancer. The Her2 polymorphism at codon 655 was investigated in 304 Korean women including 177 patients with breast cancer. The association between Her2 genotype and Her2 protein overexpression was also examined in breast cancers by immunohistochemistry. Her2(V655) was not associated with a significant breast cancer risk (odds ratio (OR), 1.792; 95% confidence interval (CI), 0.459-6.991). The frequency of homozygous or heterozygous valine allele increased in stage 2 patients (OR, 1.67; 95% CI, 0.67-4.19), and patients in stages 3 and 4 (OR, 3.36; 95% CI, 0.85-13.42) compared to patients in stage 0. However, an association between the presence of the valine allele and the overexpression of Her2 protein could not be demonstrated. These results suggest that Her2 polymorphism at codon 655 is not associated with the development of breast cancer in Korean women. However, there is a possibility that the valine allele at codon 655 might be related to increased risk of breast cancer progression.
已发现Her2原癌基因的扩增和过表达与人类乳腺癌的发生和发展相关。一些作者认为,Her2基因第655密码子处的一个多态性缬氨酸等位基因(Her2(V655))是乳腺癌发生的一个易感遗传因素。对304名韩国女性进行了研究,其中包括177名乳腺癌患者,调查了第655密码子处的Her2多态性。还通过免疫组织化学检查了乳腺癌中Her2基因型与Her2蛋白过表达之间的关联。Her2(V655)与显著的乳腺癌风险无关(优势比(OR)为1.792;95%置信区间(CI)为0.459 - 6.991)。与0期患者相比,2期患者(OR为1.67;95%CI为0.67 - 4.19)以及3期和4期患者(OR为3.36;95%CI为0.85 - 13.42)中纯合或杂合缬氨酸等位基因的频率增加。然而,缬氨酸等位基因的存在与Her2蛋白过表达之间未显示出关联。这些结果表明,第655密码子处的Her2多态性与韩国女性乳腺癌的发生无关。然而,第655密码子处的缬氨酸等位基因有可能与乳腺癌进展风险增加有关。