Article
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer.
Nature genetics - 1 Feb 2007
Reid Sarah, Schindler Detlev, Hanenberg Helmut, Barker Karen, Hanks Sandra, Kalb Reinhard, Neveling Kornelia, Kelly Patrick, Seal Sheila, Freund Marcel, Wurm Melanie, Batish Sat Dev, Lach Francis P, Yetgin Sevgi, Neitzel Heidemarie, Ariffin Hany, Tischkowitz Marc, Mathew Christopher G, Auerbach Arleen D, Rahman Nazneen
Abstract excerpt
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,...
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