PALB2/FANCN: recombining cancer and Fanconi anemia.
PALB2/FANCN: recombining cancer and Fanconi anemia.
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DOI：
10.1158/0008-5472.can-10-1012
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发表时间：
2010-10-01
期刊：
影响因子：
11.2
通讯作者：
Xia B
中科院分区：
文献类型：
--
作者：
Tischkowitz M;Xia B
PALB2 最初被鉴定为一种 BRCA2 相互作用蛋白，对于关键的 BRCA2 基因组看护功能至关重要。随后人们发现 PALB2 是另一个范可尼贫血 (FA) 基因 (FANCN)，并且单等位基因 PALB2 突变与乳腺癌和胰腺癌风险增加相关。 PALB2 突变已在全世界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，我们总结了这一关键 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增进了我们对 FA 和成人癌症易感性的了解。
PALB2 was originally identified as a BRCA2-interacting protein which 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.