对BRCA1和BRCA2功能的深入了解。

Insights into the functions of BRCA1 and BRCA2.

作者信息

Welcsh P L, Owens K N, King M C

机构信息

Departments of Medicine and Genetics, Box 357720, University of Washington, Seattle, WA 98195-7720, USA.

出版信息

Trends Genet. 2000 Feb;16(2):69-74. doi: 10.1016/s0168-9525(99)01930-7.

DOI:10.1016/s0168-9525(99)01930-7

PMID:10652533

Abstract

Since BRCA1 and BRCA2 were cloned five years ago, unraveling their normal functions has posed fascinating problems for cancer biologists. Both genes are novel, and little of their normal function was revealed by their sequence. Both genes contribute to homologous recombination and DNA repair, to embryonic proliferation, to transcriptional regulation and, for BRCA1, to ubiquitination. But questions regarding BRCA1 and BRCA2 biology remain, and their resolution is critical for clinical development. Why do ubiquitously expressed genes that participate in universal pathways lead, when mutant, specifically to breast and ovarian cancer? Why are the same genes required for embryonic proliferation and for tumor suppression?

摘要

自五年前BRCA1和BRCA2被克隆以来，阐明它们的正常功能一直是癌症生物学家面临的有趣问题。这两个基因都是新发现的，其序列几乎没有揭示它们的正常功能。这两个基因都参与同源重组和DNA修复、胚胎增殖、转录调控，对于BRCA1来说，还参与泛素化。但是关于BRCA1和BRCA2生物学的问题仍然存在，其解决对于临床发展至关重要。为什么参与普遍通路的广泛表达基因在发生突变时会特异性地导致乳腺癌和卵巢癌？为什么胚胎增殖和肿瘤抑制需要相同的基因？