Hartmann A, Rosanelli G, Blaszyk H, Cunningham J M, McGovern R M, Schroeder J J, Schaid D J, Kovach J S, Sommer S S
Department of Oncology, Mayo Clinic, Rochester, Minnesota 55905.
J Clin Invest. 1995 Feb;95(2):686-9. doi: 10.1172/JCI117714.
Since mutagens produce an extraordinary diversity of mutational patterns, differential mutational exposures among populations are expected to produce different patterns of mutation. Classical epidemiological methods have been successful in implicating specific mutagens in cancers such as those of lung and skin in which one mutagen predominates. In breast cancer, however, no mutagens have been implicated in an unequivocal manner. In an attempt to facilitate epidemiological studies, we have been studying the pattern of p53 gene mutations in breast cancers from multiple populations with high and low breast cancer incidences. We previously reported that breast cancers from Midwest United States, predominantly rural Caucasian women, have a different pattern of p53 gene mutation from populations of Western European women. Herein, we analyze patterns of p53 mutations from Graz, Austria, another population with a high incidence of breast cancer. Among the 60 Austrian breast cancers analyzed, 14 (23%) have a p53 gene mutation in exons 5-9 or in adjacent splice junctions. Analysis of the patterns of mutation shows differences between the "Western European" profile and the Austrian and Midwest United States groups (P = 0.027 and 0.024, respectively). The Austrian pattern is characterized by a high frequency of A:T-->T:A transversions (P = 0.006). The presence of distinct patterns of mutation among the limited number of analyzed populations of Western European origin supports the idea that differential mutagenic exposure and/or genetic differences contribute to breast cancer mutagenesis among geographically distinct Caucasians of Western European origin.
由于诱变剂会产生多种多样的突变模式,因此预计不同人群之间不同的诱变暴露会产生不同的突变模式。经典流行病学方法已成功地将特定诱变剂与某些癌症联系起来,比如在肺癌和皮肤癌中,有一种诱变剂占主导地位。然而,在乳腺癌中,尚未明确指出任何诱变剂。为了促进流行病学研究,我们一直在研究来自乳腺癌发病率高低不同的多个群体的乳腺癌中p53基因突变模式。我们之前报道过,来自美国中西部(主要是农村白人女性)的乳腺癌与西欧女性群体的p53基因突变模式不同。在此,我们分析了来自奥地利格拉茨的p53基因突变模式,这是另一个乳腺癌高发群体。在分析的60例奥地利乳腺癌中,有14例(23%)在外显子5 - 9或相邻剪接位点存在p53基因突变。对突变模式的分析表明,“西欧”模式与奥地利及美国中西部群体之间存在差异(P值分别为0.027和0.024)。奥地利模式的特点是A:T→T:A颠换频率较高(P = 0.006)。在有限数量的西欧裔分析群体中存在不同的突变模式,这支持了以下观点:不同的诱变暴露和/或基因差异导致了西欧裔地理上不同的白种人之间乳腺癌的诱变发生。