Blaszyk H, Vaughn C B, Hartmann A, McGovern R M, Schroeder J J, Cunningham J, Schaid D, Sommer S S, Kovach J S
Department of Oncology, Mayo Clinic and Foundation, Rochester, MN 55905.
Lancet. 1994 May 14;343(8907):1195-7. doi: 10.1016/s0140-6736(94)92403-1.
The pattern of acquired mutations in the p53 gene can be used to study differences in factors contributing to carcinogenesis. We investigated mutations in exons 5-9 and adjacent intronic regions in 47 breast cancers of black women from Michigan, a population with the highest breast-cancer mortality in the US. The 16 mutations detected differed from those of other populations. In particular, the black women had an excess of A:T-->G:C transitions compared with rural white US midwest women. While the causes of the different pattern of acquired mutation remain to be determined, this molecular epidemiological approach detects the consequences of mutagenic processes in specific populations. Mutation patterns will constrain hypotheses to mechanisms consistent with the observed biochemical alterations.
p53基因中获得性突变的模式可用于研究致癌因素的差异。我们调查了来自密歇根州的47例黑人女性乳腺癌患者外显子5 - 9及相邻内含子区域的突变情况，该群体是美国乳腺癌死亡率最高的人群。检测到的16种突变与其他人群的不同。特别是，与美国中西部农村白人女性相比，黑人女性中A:T→G:C转换过多。虽然获得性突变模式不同的原因尚待确定，但这种分子流行病学方法可检测特定人群中诱变过程的后果。突变模式将限制与观察到的生化改变相一致的机制的假设。
