Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene.

  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},
  volume={324 5924},
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
Highly Influential
This paper has highly influenced 13 other papers. REVIEW HIGHLY INFLUENTIAL CITATIONS


Publications citing this paper.
Showing 1-10 of 304 extracted citations

Familial pancreatic cancer: genetic advances.

Genes & development • 2014
View 6 Excerpts
Highly Influenced

Pancreatic cancer genomics.

Current opinion in genetics & development • 2014
View 5 Excerpts
Highly Influenced

Experimental Metastasis: Modeling and Analysis

Springer Netherlands • 2013
View 5 Excerpts
Highly Influenced

Genetic susceptibility to pancreatic cancer and its functional characterisation: the PANcreatic Disease ReseArch (PANDoRA) consortium.

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver • 2013
View 4 Excerpts
Highly Influenced

PALB2 mutations in familial breast and pancreatic cancer

Familial Cancer • 2011
View 4 Excerpts
Highly Influenced


Publications referenced by this paper.

Breast Cancer Research 9 R83

S6. W.D. Foulkes
Breast Cancer Res Treat • 2007

Similar Papers

Loading similar papers…