Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene.

@article{Jones2009ExomicSI,
  title={Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene.},
  author={Si{\^a}n Jones and Ralph H. Hruban and Mihoko Kamiyama and M. Fernanda M. Borges and Xiaosong Zhang and Donald Williams Parsons and Jimmy Cheng-Ho Lin and Emily Palmisano and Kieran Brune and Elizabeth M. Jaffee and Christine A Iacobuzio-Donahue and Anirban Maitra and Giovanni Parmigiani and Scott E. Kern and Victor E. Velculescu and Kenneth W. Kinzler and Bert Vogelstein and James R. Eshleman and Michael Goggins and Alison P Klein},
  journal={Science},
  year={2009},
  volume={324 5924},
  pages={
          217
        }
}
Through complete sequencing of the protein-coding genes in a patient with familial pancreatic cancer, we identified a germline, truncating mutation in PALB2 that appeared responsible for this patient's predisposition to the disease. Analysis of 96 additional patients with familial pancreatic cancer revealed three distinct protein-truncating mutations, thereby validating the role of PALB2 as a susceptibility gene for pancreatic cancer. PALB2 mutations have been previously reported in patients… CONTINUE READING
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