The DOI matches its Crossref record; 9 of the 10 references it cites were found in a registry or an index.
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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“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.”
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Spencer, P. M., Cameron, J. L., & Lin, L. (2000) · Cited by 7,202
An Integrated Genomic Analysis of Human Glioblastoma Multiforme
Parsons, D. W., Jones, S., Zhang, X., Lin, J. C.-H., Leary, R. J., Angenendt, P., Mankoo, P., Carter, H., Siu, I.-M., Gallia, G. L., et al. (2008) · Science · doi:10.1126/science.1164382 · Cited by 5,857
Self-citationCore Signaling Pathways in Human Pancreatic Cancers Revealed by Global Genomic Analyses
Jones, S., Zhang, X., Parsons, D. W., Lin, J. C.-H., Leary, R. J., Angenendt, P., Mankoo, P., Carter, H., Kamiyama, H., Jimeno, A., et al. (2008) · Science · doi:10.1126/science.1164368 · Cited by 3,969
Self-citationThe Genomic Landscapes of Human Breast and Colorectal Cancers
Wood, L. D., Parsons, D. W., Jones, S., Lin, J., Sjöblom, T., Leary, R. J., Shen, D., Boca, S. M., Barber, T., Ptak, J., et al. (2007) · Science · doi:10.1126/science.1145720 · Cited by 2,833
Self-citationPALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
Rahman, N., Seal, S., Thompson, D. J., Kelly, P. F., Renwick, A., Elliott, A., Reid, S., Spanova, K., Barfoot, R., Chagtai, T., et al. (2006) · Nature Genetics · doi:10.1038/ng1959 · Cited by 1,026
Control of BRCA2 Cellular and Clinical Functions by a Nuclear Partner, PALB2
Xia, B., Sheng, Q., Nakanishi, K., Ohashi, A., Wu, J., Christ, N., Liu, X., Jasin, M., Couch, F. J., & Livingston, D. M. (2006) · Molecular Cell · doi:10.1016/j.molcel.2006.05.022 · Cited by 861
Maitra, A., & Hruban, R. H. (2008) · Annual Review of Pathology: Mechanisms of Disease · doi:10.1146/annurev.pathmechdis.3.121806.154305 · Cited by 707
Self-citationGenetic Predisposition to Breast Cancer: Past, Present, and Future
Turnbull, C., & Rahman, N. (2008) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164339 · Cited by 315
The Future of Personal Genomics
McGuire, A. L., Cho, M. K., McGuire, S. E., & Caulfield, T. (2007) · Science · doi:10.1126/science.1147475 · Cited by 61
Flagged first, then by citations
1 of the 10 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Items 401–500 of 831
Toss, A., Quarello, P., Mascarin, M., Banna, G. L., Zecca, M., Cinieri, S., Peccatori, F. A., & Ferrari, A. (2022) · Current Oncology Reports · doi:10.1007/s11912-022-01213-3 · Cited by 19
Hereditary Pancreatic and Hepatobiliary Cancers
Haddad, A. J., Kowdley, G. C., Pawlik, T. M., & Cunningham, S. C. (2011) · International Journal of Surgical Oncology · doi:10.1155/2011/154673 · Cited by 19
“The recently recognized partner and localizer of BRCA2, PALB2, is also frequently lost in HPC, at a rate of approximately 3% in recent North American [42] and European [43] sequencing studies of HPC kindreds, making it the second most commonly lost gene in HPC. Knowledge of such mutations as BRCA2 and PALB2 has major…”
BackgroundSF3A1 and pancreatic cancer: new evidence for the association of the spliceosome and cancer
Tian, J., Liu, Y., Zhu, B., Tian, Y., Zhong, R., Chen, W., Lu, X., Zou, L., Shen, N., Qian, J., et al. (2015) · Oncotarget · doi:10.18632/oncotarget.5647 · Cited by 19
“With respect to the germline variation of PC, multiple genes including BRCA2, PALB2, ATM, the ABO loci, NR5A2, CLPTM1L-TERT, BACH1, DAB2, and FAM19A5, have been shown to be associated with the progression of PC [1, 5–9].”
Do founder mutations characteristic of some cancer sites also predispose to pancreatic cancer?
Lener, M. R., Scott, R. J., Kluźniak, W., Baszuk, P., Cybulski, C., Wiechowska–Kozłowska, A., Huzarski, T., Byrski, T., Kładny, J., Pietrzak, S., et al. (2016) · International Journal of Cancer · doi:10.1002/ijc.30116 · Cited by 19
“A relationship between PALB2 gene mutation is reported for Familial Pancreatic Cancer (FPC), especially for families with a history of breast cancer.(25,26) PALB2 mutations are rare in the general population (0.”
BackgroundGenetic Testing by Cancer Site
Axilbund, J. E., & Wiley, E. (2012) · The Cancer Journal · doi:10.1097/ppo.0b013e3182624694 · Cited by 20
Das, K. K., & Early, D. S. (2017) · Current Treatment Options in Gastroenterology · doi:10.1007/s11938-017-0149-8 · Cited by 19
Janssen, B. V., Bellis, S., Köller, T., Tischkowitz, M. D., & Liau, S. (2019) · Journal of Human Genetics · doi:10.1038/s10038-019-0680-7 · Cited by 19
Zhao, T., Zhao, J., Ma, C., Wei, J., Wei, B., & Liu, J. (2020) · Archives of Medical Research · doi:10.1016/j.arcmed.2019.12.007 · Cited by 19
The Rise and Rise of Exome Sequencing
Ku, C., Cooper, D. N., & Patrinos, G. P. (2016) · Public Health Genomics · doi:10.1159/000450991 · Cited by 21
Epidemiology of pancreatic cancer
Yeo, T. P., & Yeo, C. J. (2012) · Elsevier eBooks · doi:10.1016/b978-1-4377-1454-8.00058-8 · Cited by 19
Genetic Counseling for Fanconi Anemia: Crosslinking Disciplines
Zierhut, H. A., Tryon, R. K., & Sanborn, E. M. (2014) · Journal of Genetic Counseling · doi:10.1007/s10897-014-9754-z · Cited by 17
Borrello, M. T., Martin, M. B., & Pin, C. L. (2021) · Pancreatology · doi:10.1016/j.pan.2021.10.007 · Cited by 18
Assessing association between protein truncating variants and quantitative traits
Rivas, M. A., Pirinen, M., Neville, M., Gaulton, K. J., Moutsianas, L., Lindgren, C. M., Karpe, F., McCarthy, M. I., & Donnelly, P. (2013) · Bioinformatics · doi:10.1093/bioinformatics/btt409 · Cited by 17
“Hence, to boost the ability to detect signal, evidence is combined across variants.”
BackgroundMutation analysis of PALB2 gene in French breast cancer families
Damiola, F., Schultz, I., Barjhoux, L., Sornin, V., Dondon, M.-G., Eon-Marchais, S., Marcou, M., Caron, O., Gauthier-Villars, M., de Pauw, A., et al. (2015) · Breast Cancer Research and Treatment · doi:10.1007/s10549-015-3625-7 · Cited by 18
The Foundations of Genomic and Personalized Medicine
Ginsburg, G. S., & Willard, H. F. (2010) · Elsevier eBooks · doi:10.1016/b978-0-12-374934-5.00001-5 · Cited by 20
Screening for Pancreatic Cancer
Wada, K., Takaori, K., & Traverso, L. W. (2015) · Surgical Clinics of North America · doi:10.1016/j.suc.2015.05.010 · Cited by 17
Breast Cancer Genetics for the Surgeon: An Update on Causes and Testing Options
Grignol, V. P., & Agnese, D. M. (2016) · Journal of the American College of Surgeons · doi:10.1016/j.jamcollsurg.2016.01.005 · Cited by 17
Bar-Mashiah, A., Aronson, A., Naparst, M. S., DiMaio, C. J., & Lucas, A. L. (2020) · BMC Gastroenterology · doi:10.1186/s12876-020-01308-w · Cited by 17
Inherited Pancreatic Cancer Syndromes and High-Risk Screening
Biller, L. H., Wolpin, B. M., & Goggins, M. (2021) · Surgical Oncology Clinics of North America · doi:10.1016/j.soc.2021.06.002 · Cited by 19
Self-citationImpact of gut microbiome in the development and treatment of pancreatic cancer: Newer insights
Bangolo, A., Trivedi, C. P., Jani, I., Pender, S., Khalid, H., Alqinai, B., Intisar, A., Randhawa, K., Moore, J., Deugd, N. D., et al. (2023) · World Journal of Gastroenterology · doi:10.3748/wjg.v29.i25.3984 · Cited by 17
Schmitt, A., Feldmann, G., Zander, T., & Reinhardt, H. C. (2018) · Oncology Research and Treatment · doi:10.1159/000493401 · Cited by 18
Proteostasis Dysregulation in Pancreatic Cancer
Arpalahti, L., Haglund, C., & Holmberg, C. I. (2020) · Advances in experimental medicine and biology · doi:10.1007/978-3-030-38266-7_4 · Cited by 17
Therapeutic Strategies Targeting Tumor Suppressor Genes in Pancreatic Cancer
Kuo, K., Hsiao, P., Chang, W., Chuang, S., Yang, Y.-H., Wuputra, K., Ku, C., Pan, J.-B., Li, C.-P., Kato, K., et al. (2021) · Cancers · doi:10.3390/cancers13153920 · Cited by 17
“The next-generation sequencing (NGS) technique can identify a series of somatic mutations, such as fusions (ALK, NRG1, NTRK, and ROS1), mutations (BRAF, BRCA1/2, HER2, KRAS, and PALB2 [24]), and mismatch repair (MMR) genes (MLH1, MSH2, MSH6, and PMS2 [25]) in patients.”
BackgroundInfluentialGermline mutations in a DNA repair pathway are associated with familial colorectal cancer
Xu, P., Sun, D., Gao, Y., Jiang, Y., Zhong, M., Zhao, G., Chen, J., Wang, Z., Liu, Q., Hong, J., et al. (2021) · JCI Insight · doi:10.1172/jci.insight.148931 · Cited by 17
Livingston, D. M. (2009) · Science · doi:10.1126/science.1174839 · Cited by 16
The promise of methylation on beads for cancer detection and treatment
Guzzetta, A. A., Pisanic, T. R., Sharma, P., Yi, J. M., Stark, A., Wang, T., & Ahuja, N. (2014) · Expert Review of Molecular Diagnostics · doi:10.1586/14737159.2014.943665 · Cited by 17
Preclinical strategies to define predictive biomarkers for therapeutically relevant cancer subtypes
Pajic, M., Scarlett, C. J., Chang, D. K.-F., Sutherland, R. L., & Biankin, A. V. (2011) · Human Genetics · doi:10.1007/s00439-011-0990-0 · Cited by 17
“Through complete exomic genome sequencing in a patient with familial pancreatic cancer, a germline, truncating mutation in PALB2, a partner and localizer of BRCA2 to DNA, was found to be responsible for this patient’s predisposition to the disease (Jones et al. 2009).”
BackgroundAdvances in Hereditary Colorectal and Pancreatic Cancers
Underhill-Blazey, M. L., Germansky, K. A., & Yurgelun, M. B. B. (2016) · Clinical Therapeutics · doi:10.1016/j.clinthera.2016.03.017 · Cited by 17
ROR1 and ROR2 expression in pancreatic cancer
Liu, D., Sharbeen, G., Phillips, P. A., Initiative, A. P. C. G., Johns, A. L., Gill, A. J., Chantrill, L. A., Timpson, P., Chou, A. S. Y., Pajic, M., et al. (2021) · BMC Cancer · doi:10.1186/s12885-021-08952-9 · Cited by 15
“Risk factors associated with the disease include smoking [3], family history [4], germline mutations [5] and genetic mutations [6].”
BackgroundSelf-citationGermline variants of ATG7 in familial cholangiocarcinoma alter autophagy and p62
Greer, S., Chen, J., Ogmundsdottir, M. H., Ayala, C. I., Lau, B. T., Delacruz, R. G. C., Sandoval, I. T., Kristjánsdóttir, S., Jones, D. A., Haslem, D. S., et al. (2022) · Scientific Reports · doi:10.1038/s41598-022-13569-4 · Cited by 16
Personalized Systemic Therapies in Hereditary Cancer Syndromes
Mastrodomenico, L., Piombino, C., Riccò, B., Barbieri, E., Venturelli, M., Piacentini, F., Dominici, M., Cortesi, L., & Toss, A. (2023) · Genes · doi:10.3390/genes14030684 · Cited by 17
Ueki, A., Yoshida, R., Kosaka, T., & Matsubayashi, H. (2023) · Journal of Human Genetics · doi:10.1038/s10038-023-01153-1 · Cited by 18
Novel Therapeutics for Pancreatic Adenocarcinoma
Lowery, M. A., & O'Reilly, E. M. (2015) · Hematology/Oncology Clinics of North America · doi:10.1016/j.hoc.2015.04.006 · Cited by 16
Advanced EUS Guided Tissue Acquisition Methods for Pancreatic Cancer
Kandel, P., & Wallace, M. B. (2018) · Cancers · doi:10.3390/cancers10020054 · Cited by 16
“Sporadic disease has been seen in patients with germline mutations like PLAB2, BRACA2, STK11/KLB1, and p16 [16,17].”
BackgroundAdvances in Translational Research and Clinical Care in Pancreatic Cancer: Where Are We Headed?
Satyananda, V., Gupta, R., Hari, D. M., Yeh, J. J.-C., & Chen, K. T. (2019) · Gastroenterology Research and Practice · doi:10.1155/2019/7690528 · Cited by 16
Frequency and molecular characteristics of PALB2 ‐associated cancers in Russian patients
Преображенская, Е. В., Shleykina, A. Y., Gorustovich, O. A., Martianov, A. S., Валерьевич, Б. И., Anisimova, E. I., Соколова, Т. Н., Chuinyshena, S. A., Kuligina, E. S., Togo, A. V., et al. (2020) · International Journal of Cancer · doi:10.1002/ijc.33317 · Cited by 17
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) · BMC Genomics · doi:10.1186/s12864-021-08137-5 · Cited by 16
Cassidy, L. D., Liau, S., & Venkitaraman, A. R. (2013) · Molecular Oncology · doi:10.1016/j.molonc.2013.10.005 · Cited by 16
Assessment of PALB2 as a Candidate Melanoma Susceptibility Gene
Aoude, L. G., Xu, M., Zhao, Z., Kovacs, M. A., Palmer, J. M., Johansson, P. A., Symmons, J., Trent, J. M., Martin, N. G., Montgomery, G. W., et al. (2014) · PLoS ONE · doi:10.1371/journal.pone.0100683 · Cited by 16
Clinical characteristics and genetic subtypes of Fanconi anemia in Saudi patients
Ghazwani, Y. Q., Balwi, M. A. A., Alabdulkareem, I. B., Al-Dress, M., Al‐Harbi, T., Al-Sudairy, R. M., Alomari, A., Aljamaan, K., Essa, M. A., Alzahrani, M., et al. (2016) · Cancer Genetics · doi:10.1016/j.cancergen.2016.02.003 · Cited by 16
Targeting reactive nitrogen species suppresses hereditary pancreatic cancer
Li, M., Chen, Q., Ma, T., & Yu, X. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1702156114 · Cited by 16
Boonen, R. A. C. M., Vreeswijk, M. P. G., & van Attikum, H. (2020) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2020.00169 · Cited by 18
HuR's role in gemcitabine efficacy: an exception or opportunity?
Brody, J. R., & Gonye, G. E. (2010) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.62 · Cited by 15
The Clinical Utility of Biomarkers in the Management of Pancreatic Adenocarcinoma
Jazieh, K., Foote, M. B., & Diaz, L. A. (2014) · Seminars in Radiation Oncology · doi:10.1016/j.semradonc.2013.11.007 · Cited by 16
Molecular Alterations in Pancreatic Cancer: Transfer to the Clinic
Gil, Y. R., Sánchez, P. J., Velasco, R. M., García, A. G., & Lobo, V. J. S.-A. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22042077 · Cited by 18
“For example, the combined FOLFIRINOX regimen increases survival in patients with molecular alterations in BRAC1, BRAC2 or PALB2, present in the unstable subtype of the Waddell et al. classification [12].”
BackgroundInfluentialModels of pancreatic ductal adenocarcinoma
Dennaoui, R., Shrestha, H., & Wagner, K. (2021) · Cancer and Metastasis Reviews · doi:10.1007/s10555-021-09989-9 · Cited by 19
Impact of the next generation DNA sequencers.
Kato, K. (2009) · PubMed Central · Cited by 15
Showalter, S. L., Charles, S., Belin, J., Cozzitorto, J. A., Einstein, P., Richards, N. G., Sauter, P. K., Kennedy, E. P., Witkiewicz, A., Brody, J. R., et al. (2010) · Expert Opinion on Drug Delivery · doi:10.1517/17425240903544462 · Cited by 16
“PALB2 should be included in the screening process, because in theory tumors mutated in PALB2 will be sensitive to a targeted therapeutic strategy.”
BackgroundInfluentialGenetic Epidemiology of Cigarette Smoke–Induced Lung Disease
Schwartz, A. G. (2012) · Proceedings of the American Thoracic Society · doi:10.1513/pats.201106-037ms · Cited by 15
“The most powerful way to conduct these studies is by enriching the sample for extreme phenotypes, such as individuals with a family history (80), as has been done successfully for other familial cancers, such as hereditary pancreatic (81) and breast (82) cancers.”
BackgroundThe c.657del5 variant in the NBN gene predisposes to pancreatic cancer
Borecká, M., Zemánková, P., Lhota, F., Soukupová, J., Kleiblová, P., Vočka, M., Souček, P., Tichá, I., Kleibl, Z., & Janatová, M. (2016) · Gene · doi:10.1016/j.gene.2016.04.056 · Cited by 15
Role of Probiotics in Pancreatic Cancer Prevention: The Prospects and Challenges
Singhal, B., Mukherjee, A., & Srivastav, S. (2016) · Advances in Bioscience and Biotechnology · doi:10.4236/abb.2016.711045 · Cited by 15
“While the genetic mutations responsible for the majority of the clustering of pancreatic cancer in families have yet to be identified, several pancreatic cancer genes have been established, including both high-penetrance genes such as BRCA2 [57], STK11 [58], p16/CDKN2 [59] and PALB2 [60] and low-penetrance genes such…”
BackgroundGotoh, Y., Ohtsuka, T., Nakamura, S., Shindo, K., Ohuchida, K., Miyasaka, Y., Mori, Y., Mochidome, N., Oda, Y., & Nakamura, M. (2018) · Surgery · doi:10.1016/j.surg.2018.10.025 · Cited by 15
Biomarkers in the diagnosis and early detection of pancreatic cancer
Tănase, C., Neagu, M. T., Albulescu, R., Codorean, E., & Dima, S. (2009) · Expert Opinion on Medical Diagnostics · doi:10.1517/17530050903117256 · Cited by 15
Unraveling the hidden complexity of cancer through long-read sequencingPreprint
Li, Q., Keşküş, A. G., Wagner, J., Izydorczyk, M., Timp, W., Sedlazeck, F. J., Klein, A. P., Zook, J. M., Kolmogorov, M., & Schatz, M. C. (2025) · Genome Research · doi:10.1101/gr.280041.124 · Cited by 15
“While exome-wide studies were possible with these technologies, sample sizes were modest (Wood et al. 2007; Jones et al. 2009).”
Self-citationGraham, S., Dmitrieva, M., Costa, D. B. V., Francescone, R., Trujillo, M. A. M., Cukierman, E., & Wood, L. D. (2024) · Carcinogenesis · doi:10.1093/carcin/bgae064 · Cited by 15
Bile Acids in Pancreatic Carcinogenesis
Sharma, B., Twelker, K., Nguyen, C., Ellis, S., Bhatia, N. D., Kuschner, Z. D., Agriantonis, A., Agriantonis, G., Arnold, M., Dave, J., et al. (2024) · Metabolites · doi:10.3390/metabo14070348 · Cited by 15
“…CHEK2, BARD1, BRCA1, and BRCA2 [57], the DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, and PMS2 [58], and CDKN2A, NBN, SMAD4, ATM [59], PALB2 [60] STK11 [61], TP53, and MUTYH/MYH [62] are some of the genes associated with PC. Based on genomic analysis, KRAS, CHEK2, BARD1, BRCA1, and BRCA2…”
BackgroundResearch and clinical applications of cancer genome sequencing
Ku, C., Cooper, D. N., Ziogas, D. E., Halkia, E., Tzaphlidou, M., & Roukos, D. H. (2012) · Current Opinion in Obstetrics & Gynecology · doi:10.1097/gco.0b013e32835af17c · Cited by 14
BRCA2: one small step for DNA repair, one giant protein purified.
Jensen, R. B. (2013) · Europe PMC (PubMed Central) · Cited by 14
Pavlidis, T., & Pavlidis, T. (2017) · Journal of Investigative Surgery · doi:10.1080/08941939.2016.1269854 · Cited by 14
Wada, K., Takaori, K., Traverso, L. W., Hruban, R. H., Furukawa, T., Brentnall, T. A., Hatori, T., Sano, K., Takada, T., Majima, Y., et al. (2013) · Journal of Hepato-Biliary-Pancreatic Sciences · doi:10.1007/s00534-013-0611-5 · Cited by 14
“Recently the PALB2 gene, partner and localizer of breast cancer 2 gene, was identified as a FPC susceptibility gene by sequencing of all protein-coding genes in a single FPC patient and their cancer [99].”
BackgroundSelf-citationScrimieri, F., Calhoun, E. S., Patel, K. G., Gupta, R., Huso, D. L., Hruban, R. H., & Kern, S. E. (2011) · Oncotarget · doi:10.18632/oncotarget.220 · Cited by 14
“This selection appears to preferentially act upon gross rearrangements, for wholeexomic and whole-genomic sequencing of human cancers (including ours) [19] has not found sub-exonic subtle mutations of this gene such as missense or nonsense mutations.”
BackgroundSelf-citationJinawath, N., Shiao, M., Norris, A. L., Murphy, K. M., Klein, A. P., Yonescu, R., Iacobuzio–Donahue, C. A., Meeker, A. K., Jinawath, A., Yeo, C. J., et al. (2017) · Genes Chromosomes and Cancer · doi:10.1002/gcc.22447 · Cited by 14
Self-citationHo, J., Li, X., Zhang, L., Liang, Y., Hu, W., Yau, J. C. W., Chan, H., Gin, T., Chan, M. T. V., Tse, G., et al. (2018) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2018.04.004 · Cited by 14
Lachter, J., Rosenberg, C., Hananya, T., Khamaysi, I. N., Klein, A., Yassin, K., & Half, E. (2018) · Rambam Maimonides Medical Journal · doi:10.5041/rmmj.10353 · Cited by 14
Self-citationRoth, S., Apte, M. V., Balachandran, V. P., Biffi, G., Conroy, T., Cukierman, E., Dotan, E., Esposito, I., Grünwald, B. T., Klauß, M., et al. (2026) · Nature Reviews Disease Primers · doi:10.1038/s41572-026-00699-6 · Cited by 19
Self-citationRs488087 single nucleotide polymorphism as predictive risk factor for pancreatic cancers
Martinez, E., Silvy, F., Fina, F., Bartoli, M., Krahn, M., Barlési, F., Figarella‐Branger, D., Iovanna, J., Laugier, R., Ouaïssi, M., et al. (2015) · Oncotarget · doi:10.18632/oncotarget.5627 · Cited by 13
Pantaleo, A., Forte, G., Fasano, C., Signorile, M. L., Sanese, P., Marco, K. D., Nicola, E. D., Latrofa, M., Grossi, V., Disciglio, V., et al. (2023) · Cancers · doi:10.3390/cancers16010056 · Cited by 15
Genetic Signature of Human Pancreatic Cancer and Personalized Targeting
Reshkin, S. J., Cardone, R. A., & Koltai, T. (2024) · Cells · doi:10.3390/cells13070602 · Cited by 14
“Individuals that belong to families in which two”
BackgroundMeta‐analysis of breast cancer risk for individuals with PALB2 pathogenic variants
Ruberu, T. L. M., Braun, D., Parmigiani, G., & Biswas, S. (2024) · Genetic Epidemiology · doi:10.1002/gepi.22561 · Cited by 13
Self-citationJiao, Y., Lumpkins, K. M., Terhune, J. H., Hruban, R. H., Klein, A. P., Kinzler, K. W., Papadopoulos, N., Vogelstein, B., & Strauch, E. D. (2014) · Pancreatology · doi:10.1016/j.pan.2014.10.009 · Cited by 13
“[1] [2] We present the case of a newborn child with an intraductal papillary”
BackgroundSelf-citationEmerging frontiers in pancreatic cancer research
Kumar‐Sinha, C., Wei, I. H., & Simeone, D. M. (2012) · Current Opinion in Gastroenterology · doi:10.1097/mog.0b013e3283567f69 · Cited by 14
“Through exome sequencing of familial pancreatic cancer patients, a truncating mutation in the BRCA2-interacting protein, PALB2 (partner and localizer of BRCA2), was identified as a pancreatic cancer susceptibility gene [10].”
BackgroundScreening of Patients at Risk for Familial Pancreatic Cancer
Torphy, R. J., & Schulick, R. D. (2017) · Surgical Clinics of North America · doi:10.1016/j.suc.2017.09.003 · Cited by 13
“1% (4 out of 96) of patients with familial pancreatic cancer.(27) In a subsequent European study, PALB2 mutations were identified in 3.”
BackgroundAdaniel, C., Salinas, F., Donaire, J. M., Bravo, M. E., Peralta, O., Paredes, H. R., Nuvia Aliaga, M., Sola, A., Neira, P., Behnke, C., et al. (2019) · Journal of Global Oncology · doi:10.1200/jgo.18.00163 · Cited by 13
Biomarkers for personalized medicine in GI cancers
Zhang, S. Y., Zhang, S. Q., Nagaraju, G. P., & El‐Rayes, B. F. (2015) · Molecular Aspects of Medicine · doi:10.1016/j.mam.2015.06.002 · Cited by 13
“Studies have shown that familial pancreatic cancer may be closely associated with mutations in the PALB2 gene with a prevalence of approximately 3% (Jones et al., 2009; Slater et al., 2010).”
Opportunities for translation: Targeting DNA repair pathways in pancreatic cancer
Maginn, E. N., de Sousa, C. H., Wasan, H. S., & Stronach, E. A. (2014) · Biochimica et Biophysica Acta (BBA) - Reviews on Cancer · doi:10.1016/j.bbcan.2014.04.002 · Cited by 14
DNA Repair and Chromosomal Translocations
Bohlander, S. K., & Kakadia, P. M. (2015) · Recent results in cancer research/Recent Results in Cancer Research · doi:10.1007/978-3-319-20291-4_1 · Cited by 16
Epidemiology of Pancreatic Cancer
Mocci, E., & Klein, A. P. (2018) · doi:10.1002/9781119188421.ch88 · Cited by 14
Self-citationNanoparticles: Characters, applications, and synthesis by endophytes
Kalra, A., Nag, A., Khandelwal, A., & Singh, R. (2023) · Elsevier eBooks · doi:10.1016/b978-0-323-91245-7.00011-0 · Cited by 12
Mutational spectrum of DNA damage and mismatch repair genes in prostate cancer
Bugoye, F. C., Torrorey-Sawe, R., Biegon, R., Dharsee, N. J., Mafumiko, F. M. S., Patel, K. T., & Mining, S. K. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1231536 · Cited by 16
“, 2007), although heterozygous LoF mutations have been associated with hereditary breast cancer and pancreatic cancer (Jones et al., 2009; Antoniou et al., 2014).”
Identification and analysis of pancreatic intraepithelial neoplasia: opportunities and challenges
Pian, L.-L., Song, M.-H., Wang, T., Qi, L., Peng, T.-L., & Xie, K.-P. (2025) · Frontiers in Endocrinology · doi:10.3389/fendo.2024.1401829 · Cited by 15
Tischkowitz, M. D., & Winqvist, R. (2011) · The Journal of Pathology · doi:10.1002/path.2903 · Cited by 12
A New Frontier in Personalized Cancer Therapy: Mapping Molecular Changes
Kasaian, K., & Jones, S. J. M. (2011) · Future Oncology · doi:10.2217/fon.11.63 · Cited by 12
Self-citationMatsubayashi, H., Kiyozumi, Y., Ishiwatari, H., Uesaka, K., Kikuyama, M., & Ono, H. (2019) · Diagnostics · doi:10.3390/diagnostics9040169 · Cited by 12
“Recently, variants of genes functioning in the homologous recombination (HR) pathway have been considered not only in terms of surveillance, but also as they relate to treatments [41]: ATM (variant rate: 2–4%) [42,43], BRCA1 (0–7%) [44,45], BRCA2 (4–17%) [15,43,46], CHEK2 (1–6%) [47], PALB2 (1–4%) [43,48,49], and RAD5…”
BackgroundSmith, J. P., Whitcomb, D. C., Matters, G. L., Brand, R. E., Liao, J., Huang, Y.-J., & Frazier, M. L. (2014) · Pancreas · doi:10.1097/mpa.0000000000000263 · Cited by 12
“The first large GWAS studies done for pancreatic cancer used exomic sequencing; hence, only areas of genes that were translated into proteins were examined.(36,37) The rs1800843 SNP characterized in our studywould not have been identified inwhole exome analysis because it is located within an intron.”
BackgroundChan, D. L. H., Clarke, S. J., Gill, A. J., Chantrill, L. A., Samra, J., Li, B. T., Barnes, T. A., Nahar, K. J., & Pavlakis, N. (2015) · Molecular and Clinical Oncology · doi:10.3892/mco.2015.533 · Cited by 12
Establishing a Clinic-Based Pancreatic Cancer and Periampullary Tumour Research Registry in Quebec
Smith, A. L., Bascuñana, C., Hall, A., Salman, A., Andrei, A.-Z., Volenik, A., Rothenmund, H., Ferland, D., Lamoussenery, D., Kamath, A. S., et al. (2015) · Current Oncology · doi:10.3747/co.22.2300 · Cited by 12
Guan, Z., Lan, H., Chen, X., Jiang, X., Wang, X., & Jin, K. (2017) · Molecular Medicine Reports · doi:10.3892/mmr.2017.7213 · Cited by 12
“PDX models are being used for pancreatic cancer research in a series of studies (2,7,34,35), while NGS technologies contribute to the translational research of pancreatic cancer (36-38).”
MethodThe role of pancreatic and duodenal homeobox 1 as a therapeutic target in pancreatic cancer
Fendrich, V., & Lauth, M. (2014) · Expert Opinion on Therapeutic Targets · doi:10.1517/14728222.2014.945427 · Cited by 11
“More recently, genomic studies have identified new unanticipated pathways contributing to pancreatic cancer, including mutations in axonal guidance pathways [5], ubiquitin system components [6], Wnt signaling [7] and other common signaling pathways [8,9].”
BackgroundLack of association between the pancreatitis risk allele CEL-HYB and pancreatic cancer
Shindo, K., Yu, J., Suenaga, M., Fesharakizadeh, S., Tamura, K., Almario, J. A., Brant, A., Borges, M. W., Siddiqui, A., Datta, L. W., et al. (2017) · Oncotarget · doi:10.18632/oncotarget.15137 · Cited by 11
Self-citationApplications of second generation sequencing technologies in complex disorders.
Bayés, M., Heath, S., & Gut, I. (2012) · Current topics in behavioral neurosciences · doi:10.1007/7854_2011_196 · Cited by 11
Saunders, I. W., Ross, J. P., Macrae, F., Young, G. P., Blanco, I., Brohede, J., Brown, G. S., Brookes, D., Lockett, T. J., Molloy, P. L., et al. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.149 · Cited by 11
A Role for ATM in Hereditary Pancreatic Cancer
Bakker, J. L., & de Winter, J. P. (2012) · Cancer Discovery · doi:10.1158/2159-8290.cd-11-0318 · Cited by 11
“Recently, next-generation sequencing was used to identify PALB2 as a pancreatic cancer susceptibility gene (2), and in this issue of Cancer Discovery, wholegenome and exome sequencing revealed pathogenic ATM mutations in patients with pancreatic cancer (3).”
MethodScreening for Pancreatic Cancer in High-risk Populations
Grover, S., & Jajoo, K. (2016) · Gastroenterology Clinics of North America · doi:10.1016/j.gtc.2015.10.001 · Cited by 11
Prédisposition héréditaire au cancer du sein (1)
Cohen‐Haguenauer, O. (2019) · médecine/sciences · doi:10.1051/medsci/2019003 · Cited by 12
Plon, S. E. (2010) · Breast Diseases A Year Book Quarterly · doi:10.1016/s1043-321x(10)79486-8 · Cited by 11
Klein, A. P. (2023) · Wiley eBooks · doi:10.1002/9781119876007.ch124 · Cited by 11
Self-citationMaxwell, K. N., & Domchek, S. M. (2013) · Current Breast Cancer Reports · doi:10.1007/s12609-013-0117-9 · Cited by 10
“Heterozygous PALB2mutations have also been associated with pancreatic cancer as a result of an exome sequencing study [115].”
Wang, S., Zheng, Y., Ogundiran, T. O., Ojengbede, O. A., Zheng, W., Nathanson, K. L., Nemesure, B. B., Ambs, S., Olopade, O. I., & Huo, D. (2017) · Cancer Epidemiology Biomarkers & Prevention · doi:10.1158/1055-9965.epi-17-0755 · Cited by 10
He, K., Zhang, S., Shao, L. L., Yin, J. C., Wu, X., Shao, Y. W., Yuan, S., & Yu, J. (2019) · Cancer Letters · doi:10.1016/j.canlet.2019.12.004 · Cited by 9
Wu, Y., Ouyang, T., Li, J., Wang, T., Fan, Z., Fan, T., Lin, B., Xu, Y., & Xie, Y. (2019) · Breast Cancer Research and Treatment · doi:10.1007/s10549-019-05483-7 · Cited by 10
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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
