title: Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer.
abstract: PALB2 was recently identified as a nuclear binding partner of BRCA2. Biallelic BRCA2 mutations cause Fanconi anemia subtype FA-D1 and predispose to childhood malignancies. We identified pathogenic mutations in PALB2 (also known as FANCN) in seven families affected with Fanconi anemia and cancer in early childhood, demonstrating that biallelic PALB2 mutations cause a new subtype of Fanconi anemia, FA-N, and, similar to biallelic BRCA2 mutations, confer a high risk of childhood cancer.
authors.affiliation: Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK.
authors.forename: Sarah
authors.initials: S
authors.lastname: Reid
authors.forename: Detlev
authors.initials: D
authors.lastname: Schindler
authors.forename: Helmut
authors.initials: H
authors.lastname: Hanenberg
authors.forename: Karen
authors.initials: K
authors.lastname: Barker
authors.forename: Sandra
authors.initials: S
authors.lastname: Hanks
authors.forename: Reinhard
authors.initials: R
authors.lastname: Kalb
authors.forename: Kornelia
authors.initials: K
authors.lastname: Neveling
authors.forename: Patrick
authors.initials: P
authors.lastname: Kelly
authors.forename: Sheila
authors.initials: S
authors.lastname: Seal
authors.forename: Marcel
authors.initials: M
authors.lastname: Freund
authors.forename: Melanie
authors.initials: M
authors.lastname: Wurm
authors.forename: Sat Dev
authors.initials: SD
authors.lastname: Batish
authors.forename: Francis P
authors.initials: FP
authors.lastname: Lach
authors.forename: Sevgi
authors.initials: S
authors.lastname: Yetgin
authors.forename: Heidemarie
authors.initials: H
authors.lastname: Neitzel
authors.forename: Hany
authors.initials: H
authors.lastname: Ariffin
authors.forename: Marc
authors.initials: M
authors.lastname: Tischkowitz
authors.forename: Christopher G
authors.initials: CG
authors.lastname: Mathew
authors.forename: Arleen D
authors.initials: AD
authors.lastname: Auerbach
authors.forename: Nazneen
authors.initials: N
authors.lastname: Rahman
mesh_terms: D000483:Alleles; D001943:Breast Neoplasms / Q000235:genetics*; D002675:Child, Preschool; 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; D007223:Infant; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D000076164:Fanconi Anemia Complementation Group N Protein; D051856:Fanconi Anemia Complementation Group Proteins; D009687:Nuclear Proteins; C512790:PALB2 protein, human; D025521:Tumor Suppressor Proteins