title: Fanconi anemia is associated with a defect in the BRCA2 partner PALB2.
abstract: The Fanconi anemia and BRCA networks are considered interconnected, as BRCA2 gene defects have been discovered in individuals with Fanconi anemia subtype D1. Here we show that a defect in the BRCA2-interacting protein PALB2 is associated with Fanconi anemia in an individual with a new subtype. PALB2-deficient cells showed hypersensitivity to cross-linking agents and lacked chromatin-bound BRCA2; these defects were corrected upon ectopic expression of PALB2 or by spontaneous reversion.
authors.affiliation: Dana-Farber Cancer Institute and Harvard Medical School, 44 Binney Street, Boston, Massachusetts 02115, USA.
authors.forename: Bing
authors.initials: B
authors.lastname: Xia
authors.forename: Josephine C
authors.initials: JC
authors.lastname: Dorsman
authors.forename: Najim
authors.initials: N
authors.lastname: Ameziane
authors.forename: Yne
authors.initials: Y
authors.lastname: de Vries
authors.forename: Martin A
authors.initials: MA
authors.lastname: Rooimans
authors.forename: Qing
authors.initials: Q
authors.lastname: Sheng
authors.forename: Gerard
authors.initials: G
authors.lastname: Pals
authors.forename: Abdellatif
authors.initials: A
authors.lastname: Errami
authors.forename: Eliane
authors.initials: E
authors.lastname: Gluckman
authors.forename: Julian
authors.initials: J
authors.lastname: Llera
authors.forename: Weidong
authors.initials: W
authors.lastname: Wang
authors.forename: David M
authors.initials: DM
authors.lastname: Livingston
authors.forename: Hans
authors.initials: H
authors.lastname: Joenje
authors.forename: Johan P
authors.initials: JP
authors.lastname: de Winter
mesh_terms: D024682:BRCA2 Protein / Q000502:physiology*; D001943:Breast Neoplasms / Q000235:genetics*; D005199:Fanconi Anemia / Q000235:genetics*; D000076164:Fanconi Anemia Complementation Group N Protein; D051856:Fanconi Anemia Complementation Group Proteins / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics / Q000502:physiology*; D025521:Tumor Suppressor Proteins / Q000235:genetics / Q000502:physiology*
chemical_list: D024682:BRCA2 Protein; D000076164:Fanconi Anemia Complementation Group N Protein; D051856:Fanconi Anemia Complementation Group Proteins; D009687:Nuclear Proteins; C512790:PALB2 protein, human; D025521:Tumor Suppressor Proteins