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Exomic Sequencing Identifies PALB2 as a Pancreatic Cancer Susceptibility Gene
Open accessAbstract
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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“Pancreatic surveillance is recommended for carriers of germline deleterious variants in cancer susceptibility gene,22–26: BRCA2, ATM, BRCA1, PALB2, CDKN2A, STK11, MLH1 and MSH2.”
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for the Genoa Pancreatic Cancer Study Group, Ghiorzo, P., Pensotti, V., Fornarini, G., Sciallero, S., Battistuzzi, L., Belli, F., Bonelli, L. A., Borgonovo, G., Bruno, W., et al. (2011) · Familial Cancer · doi:10.1007/s10689-011-9483-5 · Cited by 34
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“Indeed, PDAC carcinogenesis is associated with a series of hallmark changes for cancer cells to secure their own growth success.(7,8) Yet, these very changes (among them lack of interferon response, elevated metabolic activity, and disengagement of cell cycle control) render cancer cells highly sensitive to viral infe…”
BackgroundMutation analysis of the PALB2 gene in unselected pancreatic cancer patients in the Czech Republic
Borecká, M., Zemánková, P., Vočka, M., Souček, P., Soukupová, J., Kleiblová, P., Sevcik, J., Kleibl, Z., & Janatová, M. (2016) · Cancer Genetics · doi:10.1016/j.cancergen.2016.03.003 · Cited by 33
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“On the other hand, mono-allelic germline mutations of distal FA pathway genes, such as FANCD1, FANCN or FANCJ, confer low to medium penetrance susceptibility for breast/ovarian cancer [12,13,53] and, as applies to FANCD1 and FANCN, also for pancreatic cancer [15,54-57].”
Screening for Pancreatic Cancer
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“To overcome the limitations in defining the pathways and cell functions, as demonstrated in the study of pancreatic cancer [119], more flexible definitions of path ways and cell functions must be considered.”
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Self-citationUterine Serous Carcinoma: Increased Familial Risk for Lynch-Associated Malignancies
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“tion to Lynch syndrome, pancreatic cancer is associated with mutation in BRCA1 and BRAC2 (39–42), PALB2 (43), and CDKN2 (44).”
BackgroundRare, Pathogenic Germline Variants in Fanconi Anemia Genes Increase Risk for Squamous Lung Cancer
Selvan, M. E., Klein, R. J., & Gumus, Z. H. (2018) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-18-2660 · Cited by 30
“Variants in BRCA2 (FANCD1) are known to cause greatly increased risk of breast and ovarian cancer (30, 31), as well as increased risk of prostate and pancreatic cancers (19, 32).”
BackgroundAstiazarán-Symonds, E., & Goldstein, A. M. (2021) · Journal of Gastroenterology · doi:10.1007/s00535-021-01806-y · Cited by 34
Human Correlates of Provocative Questions in Pancreatic Pathology
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Self-citationGermline PALB2 mutation analysis in breast–pancreas cancer families: Table 1
Stadler, Z. K., Salo‐Mullen, E. E., Sabbaghian, N., Simon, J. A., Zhang, L., Olson, S. H., Kurtz, R. C., Offit, K., Foulkes, W. D., Robson, M. E., et al. (2011) · Journal of Medical Genetics · doi:10.1136/jmg.2010.087379 · Cited by 30
“In contrast, the three reported PALB2 mutation carriers with double primaries also had a first degree relative with pancreatic cancer.(3) 4 As one of the previously reported mutations in a proband with both pancreatic and breast cancer was an exonic deletion,(4) we included MLPA in our analysis, but found no large del…”
BackgroundMCL-1 antagonism enhances the anti-invasive effects of dasatinib in pancreatic adenocarcinoma
(APGI), A. P. C. G. I., Castillo, L. E., Young, A. I. J., Mawson, A., Schafranek, P., Steinmann, A. M., Nessem, D., Parkin, A., Johns, A. L., Chou, A. S. Y., et al. (2019) · Oncogene · doi:10.1038/s41388-019-1091-0 · Cited by 29
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Self-citationCortesi, L., Piombino, C., & Toss, A. (2021) · Journal of Personalized Medicine · doi:10.3390/jpm11040245 · Cited by 32
“Moreover, since gPALB2 mutations also predispose to pancreatic and ovarian cancers [27,28], these results may have significant implications for the treatment of other gPALB2-associated cancers.”
BackgroundTischkowitz, M. D., Sabbaghian, N., Hamel, N., Pouchet, C., Foulkes, W. D., Mes‐Masson, A., Provencher, D. M., & Tonin, P. N. (2013) · BMC Medical Genetics · doi:10.1186/1471-2350-14-5 · Cited by 29
“Germline mutations in PALB2 have also been identified in familial pancreatic cancer [15,16].”
BackgroundGenome-Wide Association Studies of Sleep Disorders
Raizen, D. M., & Wu, M. N. (2011) · CHEST Journal · doi:10.1378/chest.10-1313 · Cited by 29
Exploring the link between MORF4L1 and risk of breast cancer
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“Nevertheless, given the extremely low frequency of high/moderate-penetrance mutations of other components of the FA/BrCa pathway [3,12,14] and the possible involvement in other cancer types [66], further investigation of MORF4L1 may be warranted.”
BackgroundAu, T. H., Wang, K., Stenehjem, D. D., & Garrido‐Laguna, I. (2017) · Journal of Gastrointestinal Oncology · doi:10.21037/jgo.2017.01.04 · Cited by 29
“In hereditary or sporadic pancreatic cancer (PC), PALB2 mutation appears sufficient to cause DNA replication and damage response defects (137,144-148).”
BackgroundSólyom, S., Winqvist, R., Nikkilä, J., Rapakko, K., Hirvikoski, P. P., Kokkonen, H., & Pylkäs, K. (2011) · Cancer Letters · doi:10.1016/j.canlet.2010.12.020 · Cited by 30
A novel PALB2 truncating mutation in an Italian family with male breast cancer
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“PALB2 is also the second most commonly mutated gene noted in hereditary pancreatic cancer (5).”
BackgroundSmith, A. L., Wong, C., Cuggia, A., Borgida, A., Holter, S., Hall, A., Connor, A. A., Bascuñana, C., Asselah, J., Bouganim, N., et al. (2018) · JCO Precision Oncology · doi:10.1200/po.17.00098 · Cited by 29
Pharmacotherapeutic strategies for treating pancreatic cancer: advances and challenges
Diab, M., Azmi, A. S., Mohammad, R. M., & Philip, P. A. (2018) · Expert Opinion on Pharmacotherapy · doi:10.1080/14656566.2018.1561869 · Cited by 28
“Located on chromosome 13q, the tumor suppressor gene BRCA2 is inactivated (germline or somatic) in fewer than 10% of PDAC [42].”
BackgroundInfluentialGenomic alterations in pancreatic cancer and their relevance to therapy
Takai, E., & Yachida, S. (2015) · World Journal of Gastrointestinal Oncology · doi:10.4251/wjgo.v7.i10.250 · Cited by 27
Mamon, H. J., Niedzwiecki, D., Hollis, D. R., Tan, B. R., Mayer, R. J., Tepper, J. E., Goldberg, R. M., Blackstock, A. W., Fuchs, C. S., & for the Cancer and Leukemia Group B (2010) · Cancer · doi:10.1002/cncr.25742 · Cited by 27
“One promising strategy for future studies may be to build on this schedule of induction chemotherapy followed by chemoradiation with the addition of targeted agents emerging from an improved understanding of pancreatic cancer biology.(56-59) We have demonstrated the feasibility of combining both 5FU and gemcitabine wi…”
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“The application of WES has so far identified a gene predisposing to pancreatic cancer (14), an already known gene for autosomal dominant Freeman–Sheldon syndrome (15), and the gene for Miller syndrome, a rare autosomal recessive disorder of previously unknown cause (13).”
BackgroundFanconi anemia proteins and genome fragility: unraveling replication defects for cancer therapy
Badra-Fajardo, N., Taraviras, S. L., & Lygerou, Z. (2022) · Trends in cancer · doi:10.1016/j.trecan.2022.01.015 · Cited by 27
FANCA safeguards interphase and mitosis during hematopoiesis in vivo
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“Similarly, truncating mutations to the homologous recombination gene PALB2 also seem to increase risk of PDAC (15).”
BackgroundNetwork Analysis Reveals Functional Cross-links between Disease and Inflammation Genes
Zhang, Y., Fan, H., Xu, J., Xiao, Y., Xu, Y., Li, Y., & Li, X. (2013) · Scientific Reports · doi:10.1038/srep03426 · Cited by 26
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“9), BRCA2 (10), and PalB2 (11) have been identified.”
The future of clinical cancer genomics
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“For example, PALB2 germline mutations are implicated in both familial pancreatic cancer and breast cancer [78].”
BackgroundLiu, S., Yu, J., Creeden, J. F., Sutton, J. M., Markowiak, S. F., Sanchez, R., Nemunaitis, J. J., Nestor‐Kalinoski, A. L., Zhang, J., Damoiseaux, R. D., et al. (2020) · Cancer Letters · doi:10.1016/j.canlet.2020.08.002 · Cited by 24
“BIRC5 is prominently expressed during embryonal development, absent in most normal, terminally differentiated tissues but upregulated in a variety of human cancers [57-62].”
BackgroundThe Emerging Role of Microbiota and Microbiome in Pancreatic Ductal Adenocarcinoma
Čierniková, S., Novisedláková, M., Cholujová, D., Števurková, V., & Mego, M. (2020) · Biomedicines · doi:10.3390/biomedicines8120565 · Cited by 24
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Self-citationFamilial Pancreatic Cancer and Surveillance of High-Risk Individuals
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“Both genes have meanwhile been identified as breast cancer and the latter as breast and pancreatic cancer susceptibility genes (Cantor et al. 2004, Seal et al. 2006, Rahman et al. 2007, Jones et al. 2009, Tischkowitz et al. 2009).”
BackgroundThe impact of a history of cancer on pancreatic ductal adenocarcinoma survival
He, X., Li, Y., Su, T., Lai, S., Wu, W., Chen, L., Si, J., & Sun, L. (2018) · United European Gastroenterology Journal · doi:10.1177/2050640618765505 · Cited by 23
Targeting BRCA and DNA Damage Repair Genes in GI Cancers: Pathophysiology and Clinical Perspectives
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Chromosome Region Maintenance 1 (XPO1/CRM1) as an Anticancer Target and Discovery of Its Inhibitor
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Screening for pancreatic cancer has the potential to save lives, but is it practical?
Mazer, B. L., Lee, J. W., Roberts, N. J., Chu, L. C. H., Lennon, A. M., Klein, A. P., Eshleman, J. R., Fishman, E. K., Canto, M. I., Goggins, M., et al. (2023) · Expert Review of Gastroenterology & Hepatology · doi:10.1080/17474124.2023.2217354 · Cited by 24
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New Developments in Pancreatic Cancer
Greer, J. B., & Brand, R. E. (2011) · Current Gastroenterology Reports · doi:10.1007/s11894-011-0175-y · Cited by 23
“[17] identified a mutation in PALB2 in a patient with FPC who had undergone exomic sequencing of their germline DNA.”
BackgroundATM-dependent Phosphorylation of the Fanconi Anemia Protein PALB2 Promotes the DNA Damage Response
Guo, Y., Feng, W., Sy, S. M.-H., & Huen, M. S. Y. (2015) · Journal of Biological Chemistry · doi:10.1074/jbc.m115.672626 · Cited by 25
Gastrointestinal tract cancers: Genetics, heritability and germ line mutations
Lv, X.-P. (2017) · Oncology Letters · doi:10.3892/ol.2017.5629 · Cited by 23
“A specific BRCA2 , 614de1T, has been reportedly associated with a risk of gastric cancer by ~5.7% (120).”
InfluentialSong, F., Li, M., Liu, G., Swapna, G. V. T., Daigham, N. S., Xia, B., Montelione, G. T., & Bunting, S. F. (2018) · Biochemistry · doi:10.1021/acs.biochem.8b00789 · Cited by 25
New DNA sequencing technologies open a promising era for cancer research and treatment
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Germline Aberrations in Pancreatic Cancer: Implications for Clinical Care
Casolino, R., Corbo, V., Beer, P. A., Hwang, C., Paiella, S., Silvestri, V., Ottini, L., & Biankin, A. V. (2022) · Cancers · doi:10.3390/cancers14133239 · Cited by 24
Earlier Diagnosis of Pancreatic Cancer: Is It Possible?
Koltai, T. (2023) · Cancers · doi:10.3390/cancers15184430 · Cited by 22
Pancreatic Cancer Chemoprevention Translational Workshop
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A Population-Based Description of Familial Clustering of Pancreatic Cancer
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“As described previously, PALB2 was identified using genome-wide sequencing [2] and mutations have been reported in 1–3 percent of familial pancreatic cancer kindreds [35; 36] with carriers having an increased pancreatic cancer risk of 5.”
Self-citationBrody, J. R., Witkiewicz, A. K., & Yeo, C. J. (2011) · Advances in Surgery · doi:10.1016/j.yasu.2011.04.002 · Cited by 21
A decade of discovery in cancer genomics
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“To date, the spectrum of malignancies associated with PALB2 mutations remains unclear, however mutations confer increased risks for pancreatic cancer [8] and possibly ovarian cancer [9].”
BackgroundCandidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases
Zhang, J.-X. (2015) · World Journal of Gastroenterology · doi:10.3748/wjg.v21.i14.4136 · Cited by 21
Genetic Syndromes with Pancreatic Manifestations
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Diwakarla, C. S., Hannan, K. M., Hein, N., & Yip, D. (2017) · World Journal of Gastroenterology · doi:10.3748/wjg.v23.i13.2276 · Cited by 21
Targeting Homologous Recombination Repair in Cancer
Willers, H., Pfäffle, H. N., & Zou, L. (2011) · Elsevier eBooks · doi:10.1016/b978-0-12-384999-1.10007-1 · Cited by 21
Novel Targets in Pancreatic Cancer Research
Kozak, G. M., Blanco, F. F., & Brody, J. R. (2014) · Seminars in Oncology · doi:10.1053/j.seminoncol.2014.12.015 · Cited by 20
“Two landmark studies utilizing whole-exome sequencing of PDA genomes have identified frequently mutated genes[1, 2].”
BackgroundFinnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer
Mantere, T., Haanpää, M. K., Hanenberg, H., Schleutker, J., Kallioniemi, A. H., Kähkönen, M., Parto, K., Avela, K., Aittomäki, K., von Koskull, H., et al. (2014) · Clinical Genetics · doi:10.1111/cge.12447 · Cited by 20
“Although their carrier status remained unknown, the incidence of pancreatic cancer in another FANCA ex1-12del family is of interest, as also FANCD1/BRCA2, FANCC and FANCN/PALB2 mutations predispose to pancreatic cancer (8, 16).”
BackgroundYang, C., Arnold, A. G., Trottier, M., Sonoda, Y., Abu‐Rustum, N. R., Zivanovic, O., Robson, M. E., Stadler, Z. K., Walsh, M. F., Hyman, D. M., et al. (2016) · Breast Cancer Research and Treatment · doi:10.1007/s10549-016-4021-7 · Cited by 18
“It is known that germline loss-of-function mutations in PALB2 confer a hereditary predisposition to breast cancer [12, 45, 46] and pancreatic cancer [16, 33, 47].”
KEAP1-NRF2 Interaction in Cancer: Competitive Interactors and Their Role in Carcinogenesis
Oskomić, M., Tomić, A., Barbarić, L., Matić, A., Kindl, D. C., & Matovina, M. (2025) · Cancers · doi:10.3390/cancers17030447 · Cited by 22
Molecular therapeutics in pancreas cancer
Narayanan, V., & Weekes, C. D. (2016) · World Journal of Gastrointestinal Oncology · doi:10.4251/wjgo.v8.i4.366 · Cited by 19
Metadata
- 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
- Venue
- Science
- Published
- 2009-04-10
- Volume
- 324
- Issue
- 5924
- Pages
- 217-217
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- 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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