Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

By S. Reid, D. Schindler, H. Hanenberg, K. Barker, S. Hanks, R. Kalb, K. Neveling, P. Kelly, S. Seal, M. Freund and 10 more. Nature Genetics, 2007

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Homologous recombination and human health: the roles of BRCA1, BRCA2 and associated proteins (2015, background): “Patients are predisposed to developing early childhood cancers, such as Wilms’ tumor and medulloblastoma (Reid et al. 2007; Xia et al. 2007).”
Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair. (2007, background): “FA falls into 13 complementation groups, and 12 FA genes have been cloned (Gurtan and D’Andrea, 2006; Reid et al., 2007; Taniguchi and D’Andrea, 2006; Xia et al., 2006, 2007).”
Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous recombination (2010, positive): “Like BRCA2 (also known as FANCD1 ), PALB2 ( FANCN ) is mutated in a subgroup of Fanconi anemi”
DNA interstrand crosslink repair and cancer (2011, neutral): “Cancer mortality was close to 100% by 5 years of age for children with biallelic BRCA2 mutations and in seven families with PALB2 mutation”