Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene

Science. 2009 Apr 10;324(5924):217. doi: 10.1126/science.1171202.

Siân Jones ¹, Ralph H Hruban, Mihoko Kamiyama, Michael Borges, Xiaosong Zhang, D Williams Parsons, Jimmy Cheng-Ho Lin, Emily Palmisano, Kieran Brune, Elizabeth M Jaffee, Christine A Iacobuzio-Donahue, Anirban Maitra, Giovanni Parmigiani, Scott E Kern, Victor E Velculescu, Kenneth W Kinzler, Bert Vogelstein, James R Eshleman, Michael Goggins, Alison P Klein

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Affiliation

1 Ludwig Center for Cancer Genetics and Therapeutics and Howard Hughes Medical Institute, Baltimore, MD 21231, USA.

PMID: 19264984 DOI: 10.1126/science.1171202

Abstract

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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