Exploring the roles of PALB2 at the crossroads of DNA repair and cancer

被引：30
作者：
Pauty, Joris [1 ,2 ]
Rodrigue, Amelie [1 ,2 ]
Couturier, Anthony [1 ,2 ]
Buisson, Remi [3 ]
Masson, Jean-Yves [1 ,2 ]
机构：
[1] CHU Quebec Res Ctr, Genome Stabil Lab, Quebec City, PQ G1R 2J6, Canada
[2] Univ Laval, Dept Mol Biol Med Biochem & Pathol, Quebec City, PQ G1V 0A6, Canada
[3] Harvard Univ, Massachusetts Gen Hosp, Sch Med, Ctr Canc, Boston, MA 02129 USA
来源：
BIOCHEMICAL JOURNAL | 2014年 / 460卷
基金：
加拿大健康研究院;
关键词：
double-strand break repair; Fanconi's anaemia; genome integrity; partner and localizer of BRCA2 (PALB2); HOMOLOGY-DIRECTED REPAIR; FANCONI-ANEMIA PATHWAY; ONSET BREAST-CANCER; BRCA2-INTERACTING PROTEIN; SYNTHETICALLY LETHAL; EMBRYONIC LETHALITY; SUSCEPTIBILITY GENE; RAD52; INACTIVATION; GERMLINE MUTATIONS; HISTONE H2B;
D O I：
10.1042/BJ20140208
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
PALB2 [partner and localizer of BRCA2 (breast cancer early-onset 1)] has emerged as a key player in the maintenance of genome integrity. Biallelic mutations in PALB2 cause FA (Fanconi's anaemia) subtype FA-N, a devastating inherited disorder marked by developmental abnormalities, bone marrow failure and childhood cancer susceptibility, whereas monoallelic mutations predispose to breast, ovarian and pancreatic cancer. The tumour suppressor role of PALB2 has been intimately linked to its ability to promote HR (homologous recombination)mediated repair of DNA double-strand breaks. Because PALB2 lies at the crossroads between FA, HR and cancer susceptibility, understanding its function has become the primary focus of several studies. The present review discusses a current synthesis of the contribution of PALB2 to these pathways. We also provide a molecular description of FA- or cancer-associated PALB2 mutations.
引用
收藏
页码：331 / 342
页数：12
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