Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer
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- 31 December 2006
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 39 (2) , 162-164
- https://doi.org/10.1038/ng1947
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.Keywords
This publication has 14 references indexed in Scilit:
- Control of BRCA2 Cellular and Clinical Functions by a Nuclear Partner, PALB2Published by Elsevier ,2006
- Molecular pathogenesis of Fanconi anemia: recent progressBlood, 2006
- Inducibility of nuclear Rad51 foci after DNA damage distinguishes all Fanconi anemia complementation groups from D1/BRCA2Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 2006
- A Rapid Method for Retrovirus-Mediated Identification of Complementation Groups in Fanconi Anemia PatientsMolecular Therapy, 2005
- Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumourJournal of Medical Genetics, 2005
- DNA recombination, chromosomal stability and carcinogenesis: insights into the role of BRCA2DNA Repair, 2004
- Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemiaBlood, 2004
- Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhoodBlood, 2004
- A 20-year perspective on the International Fanconi Anemia Registry (IFAR)Blood, 2003
- Biallelic Inactivation of BRCA2 in Fanconi AnemiaScience, 2002