| Literature DB >> 19264984 |
Siân Jones1, 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.
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.Entities:
Mesh：
Substances：
Year: 2009 PMID： 19264984 PMCID： PMC2684332 DOI： 10.1126/science.1171202
Source DB: PubMed Journal: Science ISSN： 0036-8075 Impact factor: 47.728