Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer.
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.
Reid
Sarah
S
Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK.
Schindler
Detlev
D
Hanenberg
Helmut
H
Barker
Karen
K
Hanks
Sandra
S
Kalb
Reinhard
R
Neveling
Kornelia
K
Kelly
Patrick
P
Seal
Sheila
S
Freund
Marcel
M
Wurm
Melanie
M
Batish
Sat Dev
SD
Lach
Francis P
FP
Yetgin
Sevgi
S
Neitzel
Heidemarie
H
Ariffin
Hany
H
Tischkowitz
Marc
M
Mathew
Christopher G
CG
Auerbach
Arleen D
AD
Rahman
Nazneen
N
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*
D000076164:Fanconi Anemia Complementation Group N Protein; D051856:Fanconi Anemia Complementation Group Proteins; D009687:Nuclear Proteins; C512790:PALB2 protein, human; D025521:Tumor Suppressor Proteins