title: Exploring the roles of PALB2 at the crossroads of DNA repair and cancer.
abstract: PALB2 [partner and localizer of BRCA2 (breast cancer early-onset 2)] [corrected] 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.
authors.forename: Joris
authors.initials: J
authors.lastname: Pauty
authors.forename: Amélie
authors.initials: A
authors.lastname: Rodrigue
authors.forename: Anthony
authors.initials: A
authors.lastname: Couturier
authors.affiliation: ‡Massachusetts General Hospital Cancer Center, Harvard Medical School, Boston, MA 02129, U.S.A.
authors.forename: Rémi
authors.initials: R
authors.lastname: Buisson
authors.forename: Jean-Yves
authors.initials: JY
authors.lastname: Masson
mesh_terms: D000818:Animals; D024682:BRCA2 Protein / Q000502:physiology; D001943:Breast Neoplasms / Q000235:genetics; D018567:Breast Neoplasms, Male / Q000235:genetics; D004260:DNA Repair; D005199:Fanconi Anemia / Q000235:genetics; D000076164:Fanconi Anemia Complementation Group N Protein; D005260:Female; D059765:Homologous Recombination; D006801:Humans; D008297:Male; D051379:Mice; D009369:Neoplasms / Q000235:genetics / Q000503:physiopathology*; D009687:Nuclear Proteins / Q000502:physiology*; D010051:Ovarian Neoplasms / Q000235:genetics; D010190:Pancreatic Neoplasms / Q000235:genetics; D014157:Transcription Factors / Q000502:physiology; D025521:Tumor Suppressor Proteins / Q000502:physiology*
chemical_list: D024682:BRCA2 Protein; D000076164:Fanconi Anemia Complementation Group N Protein; C470833:MORF4L1 protein, human; D009687:Nuclear Proteins; C512790:PALB2 protein, human; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins