Martin A M, Weber B L
Department of Medicine, Division of Hematology and Oncology, University of Pennsylvania, Philadelphia 19104, USA.
J Natl Cancer Inst. 2000 Jul 19;92(14):1126-35. doi: 10.1093/jnci/92.14.1126.
Breast cancer poses a serious public health problem, and it is hoped that identification of genetic and environmental factors that contribute to the development of breast cancer will enhance prevention efforts. Two breast cancer susceptibility genes (BRCA1 and BRCA2) have been identified, and germline mutations in these genes are thought to account for between 5% and 10% of all breast cancer cases. Current findings suggest that mutations in other highly penetrant genes may play an important role in breast cancer susceptibility, and studies aimed at the isolation of these genes are under way. In addition, common variants in a number of gene classes are thought to act as low-penetrance susceptibility alleles, and efforts to identify and characterize these variants are under way. This review discusses the genetic components of susceptibility to breast cancer from the standpoint of both human genetics and rat models.
乳腺癌是一个严重的公共卫生问题，人们希望识别出导致乳腺癌发生的遗传和环境因素能够加强预防工作。已发现两种乳腺癌易感基因（BRCA1和BRCA2），这些基因的种系突变被认为占所有乳腺癌病例的5%至10%。目前的研究结果表明，其他高外显率基因的突变可能在乳腺癌易感性中起重要作用，旨在分离这些基因的研究正在进行。此外，一些基因类别的常见变异被认为是低外显率易感等位基因，识别和表征这些变异的工作也正在进行。本文从人类遗传学和大鼠模型的角度讨论了乳腺癌易感性的遗传成分。
