DNA METHYLATION IN BREAST CANCER

最近对乳腺癌易感基因BRCA1的克隆产生了意想不到的结果。虽然在有乳腺癌和卵巢癌易患家族史的受影响个人中发现了突变，但在没有家族史的乳腺癌患者中没有发现突变。我们已经确定了一种类型的改变，称为表观遗传学改变，在乳腺癌和卵巢癌中影响BRCA1。表观遗传变化是作用于基因而不会引起突变，但仍具有遗传变化稳定性的机制。我们计划检查乳腺肿瘤以寻找进一步的表观遗传学变化。这个项目对于我们理解乳腺癌的发展具有重要的意义。这一新的认识可能反过来为乳腺癌的治疗提供新的策略。

The recent cloning of the breast cancer predisposition gene, BRCA1 had an unexpected consequence. Whereas mutations were found in affected individuals from families showing a predisposition to breast and ovarian cancer, mutations were not identified in breast cancers from individuals with no family history. We have identified a type of change called an epigenetic change affecting BRCA1 in breast and ovarian cancers. Epigenetic changes are mechanisms which act at a gene without causing mutations but nevertheless have the stability of genetic change. We plan to examine breast tumours for further epigenetic changes. This project has important implications for our understanding of the development of breast cancer. This new understanding may in turn suggest new strategies for the treatment of breast cancer.