Cited by 831BRCA gene mutations in cancerPancreatic and Hepatic Oncology ResearchGenetic factors in colorectal cancer

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Exomic Sequencing Identifies PALB2 as a Pancreatic Cancer Susceptibility Gene

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Jones, Siân, 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.·2009·Science

DOI 10.1126/science.1171202PMC PMC2684332

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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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Additional file 5 of Identification and functional analysis of novel oncogene DDX60L in pancreatic ductal adenocarcinoma
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Additional file 6 of Identification and functional analysis of novel oncogene DDX60L in pancreatic ductal adenocarcinoma
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Additional file 7 of Identification and functional analysis of novel oncogene DDX60L in pancreatic ductal adenocarcinoma
Wu, H., Tian, W., Tai, X., Li, X., Li, Z., Shui, J., Yu, J., Wang, Z., & Zhu, X. (2021) · Figshare · doi:10.6084/m9.figshare.17037459

Authors: Jones, S., Hruban, R. H., Kamiyama, M., Borges, M., Zhang, X., Parsons, D. W., Lin, J. C.-H., Palmisano, E., Brune, K., Jaffee, E. M., Iacobuzio-Donahue, C. A., Maitra, A., Parmigiani, G., Kern, S. E., Velculescu, V. E., Kinzler, K. W., Vogelstein, B., Eshleman, J. R., Goggins, M., & Klein, A. P.
Affiliations: Ludwig Center for Cancer Genetics and Therapeutics and Howard Hughes Medical Institute, Baltimore, MD 21231, USA.
Howard Hughes Medical Institute (US)
Corresponding author: Eshleman, James R.
Goggins, Michael
Klein, Alison P.
ORCID: Hruban, Ralph H.
Zhang, Xiaosong
Parsons, D. Williams
Lin, Jimmy Cheng-Ho
Jaffee, Elizabeth M.
Maitra, Anirban
Parmigiani, Giovanni
Kern, Scott E
Velculescu, Victor E.
Kinzler, Kenneth W.
Vogelstein, Bert
Eshleman, James R.
Goggins, Michael
Klein, Alison P.
Venue: Science
Publisher: American Association for the Advancement of Science (AAAS)
Published: 2009-04-10
Volume: 324
Issue: 5924
Pages: 217-217
ISSN: 0036-8075 (ISSN-L)
1095-9203
DOI: 10.1126/science.1171202
PMC: PMC2684332
OpenAlex: W2140872369
Cited by: 826
References: 10
Citations by year: 2026: 13 · 2025: 7 · 2024: 18 · 2023: 19 · 2022: 66 · 2021: 43 · 2020: 34 · 2019: 53 · 2018: 48 · 2017: 50 · 2016: 50 · 2015: 69 · 2014: 81 · 2013: 53 · 2012: 67
FWCI: 42.27
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Locations: Science (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
Funders: National Institutes of Health (5r01ca121113-15)
National Cancer Institute (R01CA-97075, CA123483, R01CA123483, R01-CA121113, R37CA043460, P50CA102701, R01CA097075, P50CA062924, R37CA057345, CA 62924)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
Health Sciences › Medicine › Oncology › Pancreatic and Hepatic Oncology Research
Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
Keywords: PALB2, pancreatic cancer, hereditary cancer predisposition, germline mutations, truncating mutations, familial pancreatic cancer, BRCA2, exome sequencing
MeSH terms: Fanconi Anemia Complementation Group N Protein, Breast Neoplasms, Female, Humans, Male, Nuclear Proteins, Pancreatic Neoplasms, Pedigree, Sequence Deletion, Sequence Analysis, DNA, Germ-Line Mutation, Codon, Terminator, Genetic Predisposition to Disease, Tumor Suppressor Proteins

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Exomic Sequencing Identifies PALB2 as a Pancreatic Cancer Susceptibility Gene

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