PALB2/FANCN：重组癌症与范可尼贫血。
PALB2/FANCN: recombining cancer and Fanconi anemia.
机构信息
Department of Oncology, McGill University, Montreal, Quebec, Canada.
出版信息
Cancer Res. 2010 Oct 1;70(19):7353-9. doi: 10.1158/0008-5472.CAN-10-1012. Epub 2010 Sep 21.
Abstract
Partner and localizer of BRCA2 (PALB2) was originally identified as a BRCA2-interacting protein that is crucial for key BRCA2 genome caretaker functions. It subsequently became clear that PALB2 was another Fanconi anemia (FA) gene (FANCN), and that monoallelic PALB2 mutations are associated with increased risk of breast and pancreatic cancer. Mutations in PALB2 have been identified in breast cancer families worldwide, and recent studies have shown that PALB2 also interacts with BRCA1. Here, we summarize the molecular functions and clinical phenotypes of this key DNA repair pathway component and discuss how its discovery has advanced our knowledge of both FA and adult cancer predisposition.
摘要
BRCA2（PALB2）的伴侣和定位蛋白最初被鉴定为 BRCA2 相互作用蛋白，对于关键的 BRCA2 基因组守护者功能至关重要。随后，人们清楚地认识到 PALB2 是另一种范可尼贫血（FA）基因（FANCN），单等位基因 PALB2 突变与乳腺癌和胰腺癌风险增加有关。PALB2 的突变已在世界各地的乳腺癌家族中被发现，最近的研究表明 PALB2 还与 BRCA1 相互作用。在这里，我们总结了这个关键的 DNA 修复途径成分的分子功能和临床表型，并讨论了它的发现如何推进我们对 FA 和成人癌症易感性的认识。
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