Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene by Jones Sin, Hruban Ralph H, Kamiyama Mihoko, Borges Michael, Zhang Xiaosong, Parsons D Williams, Lin Jimmy Cheng-Ho, Palmisano Emily, Brune Kieran, Jaffee Elizabeth M, Iacobuzio-Donahue Christine A, Maitra Anirban, Parmigiani Giovanni, Kern Scott E, Velculescu Victor E, Kinzler Kenneth W, Vogelstein Bert, Eshleman James R, Goggins Michael, Klein Alison P in Science (New York, N.Y.) (2009).

[PMID: 19264984] PubMed


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 with familial breast cancer, and the PALB2 protein is a binding partner for BRCA2. These results illustrate that complete, unbiased sequencing of protein-coding genes can lead to the identification of a gene responsible for a hereditary disease.

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