Publication Date:
2009-03-07
Description:
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.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2684332/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉 〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2684332/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Jones, Sian -- 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 -- CA123483/CA/NCI NIH HHS/ -- CA62924/CA/NCI NIH HHS/ -- P50 CA062924/CA/NCI NIH HHS/ -- P50 CA062924-150011/CA/NCI NIH HHS/ -- P50 CA062924-150012/CA/NCI NIH HHS/ -- R01 CA097075/CA/NCI NIH HHS/ -- R01 CA097075-06A1/CA/NCI NIH HHS/ -- R01 CA121113/CA/NCI NIH HHS/ -- R01 CA121113-04/CA/NCI NIH HHS/ -- R01 CA123483/CA/NCI NIH HHS/ -- R01 CA123483-01A2/CA/NCI NIH HHS/ -- R01CA97075/CA/NCI NIH HHS/ -- R37 CA043460/CA/NCI NIH HHS/ -- R37 CA043460-26/CA/NCI NIH HHS/ -- R37 CA057345/CA/NCI NIH HHS/ -- R37 CA057345-17/CA/NCI NIH HHS/ -- New York, N.Y. -- Science. 2009 Apr 10;324(5924):217. doi: 10.1126/science.1171202. Epub 2009 Mar 5.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Ludwig Center for Cancer Genetics and Therapeutics and Howard Hughes Medical Institute, Baltimore, MD 21231, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/19264984" target="_blank"〉PubMed〈/a〉
Keywords:
Breast Neoplasms/genetics
;
Codon, Terminator
;
Female
;
*Genetic Predisposition to Disease
;
*Germ-Line Mutation
;
Humans
;
Male
;
Nuclear Proteins/*genetics
;
Pancreatic Neoplasms/*genetics
;
Pedigree
;
Sequence Analysis, DNA
;
Sequence Deletion
;
Tumor Suppressor Proteins/*genetics
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
