Lee Jong Woo, Soung Young Hwa, Kim Su Young, Nam Suk Woo, Park Won Sang, Lee Jung Young, Yoo Nam Jin, Lee Sug Hyung
Department of Pathology, College of Medicine, The Catholic University of Korea, Seoul, Korea.
APMIS. 2006 Jun;114(6):436-9. doi: 10.1111/j.1600-0463.2006.apm_383.x.
In addition to chromosomal translocation, the MYC gene in the N-terminal coding region showed clustered point mutations in Burkitt's lymphomas. A recent study showed that these point mutations inactivated the apoptosis activity of MYC and contributed to the tumor transformation. To see whether the point mutations of MYC are involved in tumors besides Burkitt's lymphomas, we analyzed the N-terminal cluster region of the mutations in 507 cancers from gastric, colorectal, breast and lung carcinomas, and acute leukemias, by polymerase chain reaction-based single-strand conformation polymorphism assay. However, there was no somatic mutation of the MYC gene in the cancers. The data suggest that the point mutation of the MYC gene in the N-terminal domain may be very rare and may not contribute to the development of common human cancers besides Burkitt's lymphomas.
除了染色体易位外，伯基特淋巴瘤中MYC基因的N端编码区还显示出簇状点突变。最近的一项研究表明，这些点突变使MYC的凋亡活性失活，并促成肿瘤转化。为了探究MYC的点突变是否除伯基特淋巴瘤外还参与其他肿瘤，我们通过基于聚合酶链反应的单链构象多态性分析，分析了来自胃癌、结直肠癌、乳腺癌、肺癌和急性白血病的507例癌症中该突变的N端簇区域。然而，这些癌症中未发现MYC基因的体细胞突变。数据表明，MYC基因N端结构域的点突变可能非常罕见，除伯基特淋巴瘤外，可能对常见人类癌症的发生没有作用。
