| Literature DB >> 30638972 |
Mandy Ducy1, Laura Sesma-Sanz2, Laure Guitton-Sert2, Anahita Lashgari2, Yuandi Gao2, Nadine Brahiti2, Amélie Rodrigue2, Guillaume Margaillan3, Marie-Christine Caron2, Jacques Côté2, Jacques Simard3, Jean-Yves Masson4.
Abstract
Partner and Localizer of BRCA2 (PALB2) has emerged as an important and versatile player in genome integrity maintenance. Biallelic mutations in PALB2 cause Fanconi anemia (FA) subtype FA-N, whereas monoallelic mutations predispose to breast, and pancreatic familial cancers. Herein, we review recent developments in our understanding of the mechanisms of regulation of the tumor suppressor PALB2 and its functional domains. Regulation of PALB2 functions in DNA damage response and repair occurs on multiple levels, including homodimerization, phosphorylation, and ubiquitylation. With a molecular emphasis, we present PALB2-associated cancer mutations and their detailed analysis by functional assays.Entities:
Keywords: DNA double-strand break repair; Fanconi anemia; cancer; homologous recombination; tumor suppressor
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Year: 2019 PMID： 30638972 DOI： 10.1016/j.tibs.2018.10.008
Source DB: PubMed Journal: Trends Biochem Sci ISSN： 0968-0004 Impact factor: 13.807