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.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Alleles
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Breast Neoplasms / genetics*
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Child, Preschool
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Fanconi Anemia / genetics*
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Fanconi Anemia Complementation Group N Protein
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Fanconi Anemia Complementation Group Proteins / genetics
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Genetic Predisposition to Disease*
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Humans
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Infant
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Mutation
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Nuclear Proteins / genetics*
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Tumor Suppressor Proteins / genetics*
Substances
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Fanconi Anemia Complementation Group N Protein
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Fanconi Anemia Complementation Group Proteins
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Nuclear Proteins
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PALB2 protein, human
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Tumor Suppressor Proteins