Brief Communication abstract
Nature Genetics 39, 162 - 164 (2006)
Published online: 31 December 2006 | doi:10.1038/ng1947
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer
Sarah Reid1, Detlev Schindler2, Helmut Hanenberg3,4, Karen Barker1, Sandra Hanks1, Reinhard Kalb2, Kornelia Neveling2, Patrick Kelly1, Sheila Seal1, Marcel Freund3, Melanie Wurm3, Sat Dev Batish5,6, Francis P Lach5, Sevgi Yetgin7, Heidemarie Neitzel8, Hany Ariffin9, Marc Tischkowitz10,11, Christopher G Mathew12, Arleen D Auerbach5 & Nazneen Rahman1
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.
- Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK.
- Department of Human Genetics, University of Wuerzburg, D-97074 Wuerzburg, Germany.
- Department of Pediatric Oncology, Hematology and Immunology, Heinrich Heine University, D-40225 Duesseldorf, Germany.
- Herman B. Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
- Laboratory of Human Genetics and Hematology, The Rockefeller University, 1230 York Ave., New York, New York 10021, USA.
- Department of Pathology and Laboratory Medicine, Weill Medical College of Cornell University, New York, New York 10021, USA.
- Hacettepe University, Ihsan Dooramacy Children Hospital, Division of Pediatric Hematology, 06100 Ankara, Turkey.
- Department of Human Genetics Charité-Universitaetsmedizin, D-13353 Berlin, Germany.
- Paediatric Haematology-Oncology Unit, University of Malaya Medical Centre, Kuala Lumpur, Malaysia.
- Cancer Prevention Center, The Sir Mortimer B. Davis Jewish General Hospital, Montreal, Quebec H3T 1E2, Canada.
- Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec H3A 1B1, Canada.
- Kings College London School of Medicine, Department of Medical and Molecular Genetics, Guy's Hospital, London SE1 9RT, UK.
Correspondence to: Nazneen Rahman1 e-mail: nazneen.rahman@icr.ac.uk
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