PALB2/FANCN: Recombining Cancer and Fanconi Anemia

被引：146

作者：

Tischkowitz, Marc ^{[1
,2
,3
]}

Xia, Bing ^{[4
,5
]}

机构：

[1] McGill Univ, Program Canc Genet, Dept Oncol, Montreal, PQ, Canada

[2] Jewish Gen Hosp, Segal Canc Ctr, Lady Davis Inst, Montreal, PQ H3T1E2, Canada

[3] McGill Univ, Program Canc Genet, Dept Human Genet & Med, Montreal, PQ, Canada

[4] Univ Med & Dent New Jersey, Robert Wood Johnson Med Sch, New Brunswick, NJ USA

[5] Univ Med & Dent New Jersey, Canc Inst New Jersey, Dept Radiat Oncol, New Brunswick, NJ USA

来源：

CANCER RESEARCH | 2010年 / 70卷 / 19期

关键词：

BRCA2-INTERACTING PROTEIN PALB2; ONSET BREAST-CANCER; SUSCEPTIBILITY GENE; OVARIAN-CANCER; POLY(ADP-RIBOSE) POLYMERASE; HOMOLOGOUS RECOMBINATION; BIALLELIC MUTATIONS; GERMLINE MUTATIONS; PANCREATIC-CANCER; BRCA2;

D O I：

10.1158/0008-5472.CAN-10-1012

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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. Cancer Res; 70(19); 7353-9. (C) 2010 AACR.

引用

收藏

页码：7353 / 7359

页数：7

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