Whole Genome Sequencing Defines the Genetic Heterogeneity of Familial Pancreatic Cancer
Open accessPublished version of a preprint
Abstract
Pancreatic cancer is projected to become the second leading cause of cancer-related death in the United States by 2020. A familial aggregation of pancreatic cancer has been established, but the cause of this aggregation in most families is unknown. To determine the genetic basis of susceptibility in these families, we sequenced the germline genomes of 638 patients with familial pancreatic cancer and the tumor exomes of 39 familial pancreatic adenocarcinomas. Our analyses support the role of previously identified familial pancreatic cancer susceptibility genes such as BRCA2, CDKN2A, and ATM, and identify novel candidate genes harboring rare, deleterious germline variants for further characterization. We also show how somatic point mutations that occur during hematopoiesis can affect the interpretation of genome-wide studies of hereditary traits. Our observations have important implications for the etiology of pancreatic cancer and for the identification of susceptibility genes in other common cancer types. Significance: The genetic basis of disease susceptibility in the majority of patients with familial pancreatic cancer is unknown. We whole genome sequenced 638 patients with familial pancreatic cancer and demonstrate that the genetic underpinning of inherited pancreatic cancer is highly heterogeneous. This has significant implications for the management of patients with familial pancreatic cancer. Cancer Discov; 6(2); 166–75. ©2015 AACR. This article is highlighted in the In This Issue feature, p. 109
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
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?
Deleterious variants in known pancreatic cancer susceptibility genes account for about 10-20% of familial clustering of pancreatic cancer.
“Deleterious variants in the known pancreatic cancer susceptibility genes account for ~10–20% of the familial clustering of pancreatic cancer.”
Pancreatic surveillance is recommended for carriers of germline deleterious variants in BRCA2, ATM, BRCA1, PALB2, CDKN2A, STK11, MLH1 and MSH2.
“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.”
Predisposition to MPM is very heterogeneous, similar to that reported for pancreatic cancer and other cancer types.
“Our data show, for the first time, that predisposition to MPM is very heterogeneous, similar to that reported for pancreatic cancer and other cancer types [17,18,38].”
From Germline Mutations in DNA Repair Genes Predispose Asbestos-Exposed Patients to Malignant Pleural Mesothelioma (2017) · cites this paper as [18]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Fast and accurate short read alignment with Burrows-Wheeler transform
Li, H., & Durbin, R. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp324 · Cited by 58,607 · see citing works
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., Garimella, K., Altshuler, D., Gabriel, S., Daly, M., et al. (2010) · Genome Research · doi:10.1101/gr.107524.110 · Cited by 27,895 · see citing works
Fast and accurate long-read alignment with Burrows-Wheeler transform.
Li, H., & Durbin, R. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btp698 · Cited by 12,063 · see citing works
<tt>BLAT</tt> —The <tt>BLAST</tt> -Like Alignment Tool
Kent, W. J. (2002) · Genome Research · doi:10.1101/gr.229202 · Cited by 8,480 · see citing works
Vogelstein, B., Papadopoulos, N., Velculescu, V. E., Zhou, S., Diaz, L. A., & Kinzler, K. W. (2013) · Science · doi:10.1126/science.1235122 · Cited by 7,863 · see citing works
Self-citationAn integrated map of genetic variation from 1,092 human genomes
The 1000 Genomes Project Consortium (2012) · Nature · doi:10.1038/nature11632 · Cited by 7,711 · see citing works
Self-citationMutation and cancer: statistical study of retinoblastoma
Knudson, A. G. (1971) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.68.4.820 · Cited by 7,612 · see citing works
dbSNP: the NCBI database of genetic variation
Sherry, S. T. (2001) · Nucleic Acids Research · doi:10.1093/nar/29.1.308 · Cited by 7,502 · see citing works
Age-related clonal hematopoiesis associated with adverse outcomes
Jaiswal, S., Fontanillas, P., Flannick, J., Manning, A., Grauman, P. V., Mar, B. G., Lindsley, R. C., Mermel, C. H., Burtt, N., Chavez, A., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1408617 · Cited by 4,841 · see citing works
Core 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 · see citing works
Self-citationClinVar: public archive of relationships among sequence variation and human phenotype
Landrum, M. J., Lee, J. M., Riley, G. R., Jang, W., Rubinstein, W. S., Church, D. M., & Maglott, D. R. (2014) · Nucleic Acids Research · doi:10.1093/nar/gkt1113 · Cited by 3,516 · see citing works
Whole genomes redefine the mutational landscape of pancreatic cancer
Initiative, A. P. C. G., Waddell, N., Pajic, M., Patch, A.-M., Chang, D. K., Kassahn, K. S., Bailey, P., Johns, A. L., Miller, D., Nones, K., et al. (2015) · Nature · doi:10.1038/nature14169 · Cited by 2,642 · see citing works
Self-citationPancreatic cancer genomes reveal aberrations in axon guidance pathway genes
Initiative, A. P. C. G., Biankin, A. V., Waddell, N., Kassahn, K. S., Gingras, M.-C., Muthuswamy, L. B., Johns, A. L., Miller, D. K., Wilson, P. J., Patch, A.-M., et al. (2012) · Nature · doi:10.1038/nature11547 · Cited by 2,058 · see citing works
Self-citationAge-related mutations associated with clonal hematopoietic expansion and malignancies
Xie, M., Lu, C., Wang, J., McLellan, M. D., Johnson, K. J., Wendl, M. C., McMichael, J. F., Schmidt, H. K., Yellapantula, V., Miller, C. A., et al. (2014) · Nature Medicine · doi:10.1038/nm.3733 · Cited by 1,874 · see citing works
A linear complexity phasing method for thousands of genomes
Delaneau, O., Marchini, J., & Zagury, J.-F. (2012) · Nature Methods · doi:10.1038/nmeth.1785 · Cited by 1,850 · see citing works
Pancreatitis and the Risk of Pancreatic Cancer
Lowenfels, A. B., Maisonneuve, P., Cavallini, G., Ammann, R., Lankisch, P. G., Andersen, J. R., DiMagno, E. P., Andrén‐Sandberg, Å., & Domellöf, L. (1993) · New England Journal of Medicine · doi:10.1056/nejm199305203282001 · Cited by 1,753 · see citing works
Identification of pre-leukaemic haematopoietic stem cells in acute leukaemia
Shlush, L. I., Zandi, S., Mitchell, A., Chen, W. C., Brandwein, J. M., Gupta, V., Kennedy, J. A., Schimmer, A. D., Schuh, A. C., Yee, K. W., et al. (2014) · Nature · doi:10.1038/nature13038 · Cited by 1,443 · see citing works
Very high risk of cancer in familial Peutz–Jeghers syndrome
Giardiello, F. M., Brensinger, J. D., Tersmette, A. C., Goodman, S. N., Petersen, G. M., Booker, S. V., Cruz–Correa, M., & Offerhaus, G. J. A. (2000) · Gastroenterology · doi:10.1053/gast.2000.20228 · Cited by 1,435 · see citing works
Self-citationGerm-line transmission of a mutated p53 gene in a cancer-prone family with Li–Fraumeni syndrome
Srivastava, S. K., Zou, Z., Pirollo, K. F., Blattner, W. A., & Chang, E. H. (1990) · Nature · doi:10.1038/348747a0 · Cited by 1,210 · see citing works
RefSeq: an update on mammalian reference sequences
Pruitt, K. D., Brown, G., Hiatt, S. M., Thibaud‐Nissen, F., Astashyn, A., Ermolaeva, O. D., Farrell, C. M., Hart, J. A., Landrum, M., McGarvey, K. M., et al. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt1114 · Cited by 936 · see citing works
Recurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis
Busque, L., Patel, J. P., Figueroa, M. E., Vasanthakumar, A., Provost, S., Hamilou, Z., Mollica, L., Li, J., Viale, A., Heguy, A., et al. (2012) · Nature Genetics · doi:10.1038/ng.2413 · Cited by 830 · see citing works
Exomic Sequencing Identifies <i>PALB2</i> as a Pancreatic Cancer Susceptibility Gene
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., et al. (2009) · Science · doi:10.1126/science.1171202 · Cited by 826 · see citing works
Self-citationCanto, M. I., Harinck, F., Hruban, R. H., Offerhaus, G. J., Poley, J.-W., Kamel, I., Nio, Y., Schulick, R. S., Bassi, C., Kluijt, I., et al. (2013) · Gut · doi:10.1136/gutjnl-2012-303108 · Cited by 784 · see citing works
Self-citationProspective Risk of Pancreatic Cancer in Familial Pancreatic Cancer Kindreds
Klein, A. P., Brune, K. A., Petersen, G. M., Goggins, M., Tersmette, A. C., Offerhaus, G. J. A., Griffin, C., Cameron, J. L., Yeo, C. J., Kern, S., et al. (2004) · Cancer Research · doi:10.1158/0008-5472.can-03-3823 · Cited by 678 · see citing works
Self-citationRealizing the promise of cancer predisposition genes
Rahman, N. (2014) · Nature · doi:10.1038/nature12981 · Cited by 616 · see citing works
Risk of Pancreatic Cancer in Families With Lynch Syndrome
Kastrinos, F. (2009) · JAMA · doi:10.1001/jama.2009.1529 · Cited by 544 · see citing works
Whole-genome sequencing of quartet families with autism spectrum disorder
Yuen, R. K. C., Thiruvahindrapuram, B., Merico, D., Walker, S., Tammimies, K., Hoang, N., Chrysler, C., Nalpathamkalam, T., Pellecchia, G., Liu, Y., et al. (2015) · Nature Medicine · doi:10.1038/nm.3792 · Cited by 514 · see citing works
<i>ATM</i> Mutations in Patients with Hereditary Pancreatic Cancer
Roberts, N. J., Jiao, Y., Yu, J., Kopelovich, L., Petersen, G. M., Bondy, M. L., Gallinger, S., Schwartz, A. G., Syngal, S., Cote, M. L., et al. (2012) · Cancer Discovery · doi:10.1158/2159-8290.cd-11-0194 · Cited by 491 · see citing works
Self-citationFast Computation and Applications of Genome Mappability
Derrien, T., Estellé, J., Marco‐Sola, S., Knowles, D. G., Raineri, E., Guigó, R., & Ribeca, P. (2012) · PLoS ONE · doi:10.1371/journal.pone.0030377 · Cited by 476 · see citing works
Murphy, K. M., Brune, K. A., Griffin, C. A., Sollenberger, J. E., Petersen, G. M., Bansal, R. K., Hruban, R. H., & Kern, S. E. (2002) · PubMed · Cited by 435 · see citing works
Self-citationIncreased risk of thyroid and pancreatic carcinoma in familial adenomatous polyposis.
Giardiello, F. M., Offerhaus, G. J. A., Lee, D. H., Krush, A. J., Tersmette, A. C., Booker, S. V., Kelley, N., & Hamilton, S. R. (1993) · Gut · doi:10.1136/gut.34.10.1394 · Cited by 359 · see citing works
Evaluation of DNA from the Papanicolaou test to detect ovarian and endometrial cancers.
Kinde, I., Bettegowda, C., Wang, Y., Wu, J., Agrawal, N., Shih, I.-M., Kurman, R., Dao, F., Levine, D. A., Giuntoli, R., et al. (2013) · Science Translational Medicine · doi:10.1126/scitranslmed.3004952 · Cited by 327 · see citing works
Self-citationVariants in CPA1 are strongly associated with early onset chronic pancreatitis
Witt, H., Beer, S., Rosendahl, J., Chen, J.-M., Chandak, G. R., Masamune, A., Bence, M., Szmola, R., Oracz, G., Macek, M., et al. (2013) · Nature Genetics · doi:10.1038/ng.2730 · Cited by 305 · see citing works
Ruijs, M., Verhoef, S., Rookus, M. A., Pruntel, R., van der Hout, A. H., Hogervorst, F. B. L., Kluijt, I., Sijmons, R. H., Aalfs, C. M., Wagner, A., et al. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2009.073429 · Cited by 304 · see citing works
Update on Familial Pancreatic Cancer
Hruban, R. H., Canto, M. I., Goggins, M., Schulick, R. D., & Klein, A. P. (2010) · Advances in Surgery · doi:10.1016/j.yasu.2010.05.011 · Cited by 269 · see citing works
Self-citationDuell, E. J., Lucenteforte, E., Olson, S. H., Bracci, P. M., Li, D., Risch, H. A., Silverman, D. T., Ji, B., Gallinger, S., Holly, E. A., et al. (2012) · Annals of Oncology · doi:10.1093/annonc/mds140 · Cited by 267 · see citing works
Self-citationMosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer
Ruark, E., Snape, K. M. G., Humburg, P., Loveday, C., Bajrami, I., Brough, R., Rodrigues, D. N., Renwick, A., Seal, S., Ramsay, E., et al. (2012) · Nature · doi:10.1038/nature11725 · Cited by 247 · see citing works
The APC I1307K allele and cancer risk in a community-based study of Ashkenazi Jews
Woodage, T., King, S. M., Wacholder, S., Hartge, P., Struewing, J. P., McAdams, M., Laken, S. J., Tucker, M. A., & Brody, L. C. (1998) · Nature Genetics · doi:10.1038/1722 · Cited by 188 · see citing works
CRAVAT: cancer-related analysis of variants toolkit
Douville, C. B., Carter, H. K., Kim, R., Niknafs, N., Diekhans, M., Stenson, P. D., Cooper, D. N., Ryan, M., & Karchin, R. (2013) · Bioinformatics · doi:10.1093/bioinformatics/btt017 · Cited by 157 · see citing works
Self-citationInference of locus-specific ancestry in closely related populations
Paşaniuc, B., Sankararaman, S., Kimmel, G., & Halperin, E. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp197 · Cited by 138 · see citing works
Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling
McWilliams, R. R., Wieben, E. D., Rabe, K. G., Pedersen, K. S., Wu, Y., Sicotte, H., & Petersen, G. M. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2010.198 · Cited by 135 · see citing works
Self-citationHomozygous BUB1B Mutation and Susceptibility to Gastrointestinal Neoplasia
Frio, T. R., Lavoie, J., Hamel, N., Geyer, F. C., Kushner, Y. B., Novak, D. J., Wark, L., Capelli, C., Reis-Filho, J. S., Mai, S., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa1006565 · Cited by 92 · see citing works
Elevated Cancer Mortality in the Relatives of Patients with Pancreatic Cancer
Wang, L., Brune, K. A., Visvanathan, K., Laheru, D. A., Herman, J. M., Wolfgang, C. L., Schulick, R. D., Cameron, J. L., Goggins, M., Hruban, R. H., et al. (2009) · Cancer Epidemiology Biomarkers & Prevention · doi:10.1158/1055-9965.epi-09-0557 · Cited by 68 · see citing works
Self-citationGermline BRCA1 mutations predispose to pancreatic adenocarcinoma
Al-Sukhni, W., Rothenmund, H., Borgida, A., Zogopoulos, G., O’Shea, A.-M., Pollett, A. F., & Gallinger, S. (2008) · Human Genetics · doi:10.1007/s00439-008-0554-0 · Cited by 67 · see citing works
Self-citationFamilial and sporadic pancreatic cancer share the same molecular pathogenesis
Norris, A. L., Roberts, N. J., Jones, S., Wheelan, S. J., Papadopoulos, N., Vogelstein, B., Kinzler, K. W., Hruban, R. H., Klein, A. P., & Eshleman, J. R. (2014) · Familial Cancer · doi:10.1007/s10689-014-9755-y · Cited by 57 · see citing works
Self-citationA Hybrid Likelihood Model for Sequence-Based Disease Association Studies
Chen, Y.-C., Carter, H. K., Parla, J. S., Kramer, M., Goes, F. S., Pirooznia, M., Zandi, P. P., McCombie, W. R., Potash, J. B., & Karchin, R. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003224 · Cited by 24 · see citing works
Self-citationPancreatic cancer. Special issue--insights and controversies in pancreatic pathology.
Hruban, R. H., & Zamboni, G. (2009) · PubMed · doi:10.5858/133.3.347 · Cited by 6 · see citing works
Self-citation
Flagged first, then by citations
2 of the 49 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Integrated genomic characterization of pancreatic ductal adenocarcinoma
Raphael, B. J., Hruban, R. H., Aguirre, A. J., Moffitt, R. A., Yeh, J. J., Stewart, C., Robertson, A. G., Cherniack, A. D., Gupta, M., Getz, G., et al. (2017) · Cancer Cell · doi:10.1016/j.ccell.2017.07.007 · Cited by 2,019 · see citing works
Self-citationPancreatic cancer epidemiology: understanding the role of lifestyle and inherited risk factors
Klein, A. P. (2021) · Nature Reviews Gastroenterology & Hepatology · doi:10.1038/s41575-021-00457-x · Cited by 1,258 · see citing works
Self-citationPancreatic Cancer: Pathogenesis, Screening, Diagnosis, and Treatment
Wood, L. D., Canto, M. I., Jaffee, E. M., & Simeone, D. M. (2022) · Gastroenterology · doi:10.1053/j.gastro.2022.03.056 · Cited by 875 · see citing works
Self-citationGoggins, M., Overbeek, K. A., Brand, R., Syngal, S., Del Chiaro, M., Bartsch, D. K., Bassi, C., Carrato, A., Farrell, J., Fishman, E. K., et al. (2020) · Gut · doi:10.1136/gutjnl-2019-319352 · Cited by 659 · see citing works
Self-citationStoffel, E. M., Brand, R. E., & Goggins, M. (2023) · Gastroenterology · doi:10.1053/j.gastro.2023.02.012 · Cited by 540 · see citing works
Self-citationStoop, T. F., Javed, A. A., Oba, A., Koerkamp, B. G., Seufferlein, T. T. W., Wilmink, J. W., & Besselink, M. G. (2025) · The Lancet · doi:10.1016/s0140-6736(25)00261-2 · Cited by 544 · see citing works
Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma
Shindo, K., Yu, J., Suenaga, M., Fesharakizadeh, S., Cho, C., Macgregor-Das, A., Siddiqui, A., Witmer, P. D., Tamura, K., Song, T. J., et al. (2017) · Journal of Clinical Oncology · doi:10.1200/jco.2017.72.3502 · Cited by 458 · see citing works
Self-citationAdvances in the epidemiology of pancreatic cancer: Trends, risk factors, screening, and prognosis
Cai, J., Chen, H., Lu, M., Zhang, Y., Lu, B., You, L., Zhang, T., Dai, M., & Zhao, Y. (2021) · Cancer Letters · doi:10.1016/j.canlet.2021.06.027 · Cited by 475 · see citing works
Pancreatic cancer biology and genetics from an evolutionary perspective
Makohon-Moore, A. P., & Iacobuzio–Donahue, C. A. (2016) · Nature reviews. Cancer · doi:10.1038/nrc.2016.66 · Cited by 430 · see citing works
Self-citationReal-time Genomic Characterization of Advanced Pancreatic Cancer to Enable Precision Medicine
Aguirre, A. J., Nowak, J. A., Camarda, N. D., Moffitt, R. A., Ghazani, A. A., Hazar-Rethinam, M., Raghavan, S., Kim, J., Brais, L. K., Ragon, D., et al. (2018) · Cancer Discovery · doi:10.1158/2159-8290.cd-18-0275 · Cited by 367 · see citing works
Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms
Lowery, M. A., Wong, W., Jordan, E. J., Lee, J. W., Kemel, Y., Vijai, J., Mandelker, D., Zehir, A., Capanu, M., Salo-Mullen, E., et al. (2018) · JNCI: Journal of the National Cancer Institute · doi:10.1093/jnci/djy024 · Cited by 224 · see citing works
Self-citationLowery, M. A., Jordan, E., Baştürk, O., Ptashkin, R. N., Zehir, A., Berger, M. F., Leach, T., Herbst, B. T., Askan, G., Maynard, H., et al. (2017) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-17-0899 · Cited by 212 · see citing works
Self-citationChen, J., Sun, Y., Xu, X., Wang, D., He, J., Zhou, H., Lu, Y., Zeng, J., Du, F., Gong, A., et al. (2017) · Cell Cycle · doi:10.1080/15384101.2017.1380125 · Cited by 211 · see citing works
The pancreatic cancer genome revisited
Hayashi, A., Hong, J., & Iacobuzio-Donahue, C. A. (2021) · Nature Reviews Gastroenterology & Hepatology · doi:10.1038/s41575-021-00463-z · Cited by 211 · see citing works
Self-citationEarly detection of pancreatic cancer: Where are we now and where are we going?
Zhou, B., Xu, J., Cheng, Y., Gao, J., Hu, S., Wang, L., & Zhan, H. (2017) · International Journal of Cancer · doi:10.1002/ijc.30670 · Cited by 209 · see citing works
DNA damage repair as a target in pancreatic cancer: state-of-the-art and future perspectives
Perkhofer, L., Gout, J., Roger, É., de Almeida, F. K., Simões, C., Wiesmüller, L., Seufferlein, T. T. W., & Kleger, A. (2020) · Gut · doi:10.1136/gutjnl-2019-319984 · Cited by 204 · see citing works
Evaluating Susceptibility to Pancreatic Cancer: ASCO Provisional Clinical Opinion
Stoffel, E. M., McKernin, S. E., Brand, R. E., Canto, M. I., Goggins, M., Moravek, C., Nagarajan, A., Petersen, G. M., Simeone, D. M., Yurgelun, M. B. B., et al. (2018) · Journal of Clinical Oncology · doi:10.1200/jco.18.01489 · Cited by 205 · see citing works
Self-citationPancreatic Cancer Surveillance and Survival of High-Risk Individuals
Blackford, A. L., Canto, M. I., Dbouk, M. H., Hruban, R. H., Katona, B. W., Chak, A., Brand, R. E., Syngal, S., Farrell, J. J., Kastrinos, F., et al. (2024) · JAMA Oncology · doi:10.1001/jamaoncol.2024.1930 · Cited by 178 · see citing works
Self-citationPancreatic Cancer Genomes: Implications for Clinical Management and Therapeutic Development
Dreyer, S. B., Chang, D. K.-F., Bailey, P. J., & Biankin, A. V. (2017) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-16-2411 · Cited by 160 · see citing works
Petersen, G. M. (2016) · Seminars in Oncology · doi:10.1053/j.seminoncol.2016.09.002 · Cited by 157 · see citing works
Self-citationChaffee, K. G., Oberg, A. L., McWilliams, R. R., Majithia, N., Allen, B. A., Kidd, J., Singh, N., Hartman, A.-R., Wenstrup, R. J., & Petersen, G. M. (2018) · Genetics in Medicine · doi:10.1038/gim.2017.85 · Cited by 144 · see citing works
Self-citationMicroenvironment in determining chemo-resistance in pancreatic cancer: Neighborhood matters
Dauer, P., Nomura, A., Saluja, A., & Banerjee, S. (2016) · Pancreatology · doi:10.1016/j.pan.2016.12.010 · Cited by 148 · see citing works
Scher, H. I., Graf, R. P., Schreiber, N. A., McLaughlin, B., Jendrisak, A., Wang, Y., Lee, J. S. H., Greene, S. B., Krupa, R., Lu, D. M., et al. (2017) · Cancer Research · doi:10.1158/0008-5472.can-17-1353 · Cited by 135 · see citing works
Self-citationSurgical and molecular pathology of pancreatic neoplasms
Hackeng, W. M., Hruban, R. H., Offerhaus, G. J. A., & Brosens, L. A. A. (2016) · Diagnostic Pathology · doi:10.1186/s13000-016-0497-z · Cited by 130 · see citing works
Self-citationPrecancerous neoplastic cells can move through the pancreatic ductal system
Makohon-Moore, A. P., Matsukuma, K., Zhang, M., Reiter, J. G., Gerold, J. M., Jiao, Y., Sikkema, L., Attiyeh, M. A., Yachida, S., Sandone, C., et al. (2018) · Nature · doi:10.1038/s41586-018-0481-8 · Cited by 120 · see citing works
Self-citationEarly detection of pancreatic cancer using DNA-based molecular approaches
Singhi, A. D., & Wood, L. D. (2021) · Nature Reviews Gastroenterology & Hepatology · doi:10.1038/s41575-021-00470-0 · Cited by 127 · see citing works
Self-citationRecent insights into the biology of pancreatic cancer
Yao, W., Maitra, A., & Ying, H. (2020) · EBioMedicine · doi:10.1016/j.ebiom.2020.102655 · Cited by 125 · see citing works
Pancreatic Cancer: Molecular Characterization, Clonal Evolution and Cancer Stem Cells
Pelosi, E., Castelli, G., & Testa, U. (2017) · Biomedicines · doi:10.3390/biomedicines5040065 · Cited by 124 · see citing works
Why is pancreatic cancer so deadly? The pathologist's view
Hruban, R. H., Gaida, M. M., Thompson, E., Hong, S., Noë, M., Brosens, L. A., Jongepier, M., Offerhaus, G. J. A., & Wood, L. D. (2019) · The Journal of Pathology · doi:10.1002/path.5260 · Cited by 115 · see citing works
Self-citationPerkhofer, L., Schmitt, A., Carrasco, M. C. R., Ihle, M., Hampp, S., Ruess, D. A., Heßmann, E., Russell, R., Lechel, A., Azoitei, N., et al. (2017) · Cancer Research · doi:10.1158/0008-5472.can-17-0634 · Cited by 112 · see citing works
Breunig, M., Merkle, J., Wagner, M., Melzer, M. K., Barth, T. F. E., Engleitner, T., Krumm, J., Wiedenmann, S., Cohrs, C. M., Perkhofer, L., et al. (2021) · Cell stem cell · doi:10.1016/j.stem.2021.03.005 · Cited by 110 · see citing works
Mekonnen, N., Yang, H., & Shin, Y. K. (2022) · Frontiers in Oncology · doi:10.3389/fonc.2022.880643 · Cited by 113 · see citing works
Tumor microenvironment in chemoresistance, metastasis and immunotherapy of pancreatic cancer.
Wang, S., Li, Y., Cheng, X., Ding, C., Zhang, H., Chen, L., You, L., Dai, M., & Zhao, Y. (2020) · PubMed Central · Cited by 107 · see citing works
The Role of BRCA Testing in Hereditary Pancreatic and Prostate Cancer Families
Pilarski, R. (2019) · American Society of Clinical Oncology Educational Book · doi:10.1200/edbk_238977 · Cited by 107 · see citing works
Betti, M., Casalone, E., Ferrante, D., Aspesi, A., Morleo, G., Biasi, A., Sculco, M., Mancuso, G., Guarrera, S., Righi, L., et al. (2017) · Cancer Letters · doi:10.1016/j.canlet.2017.06.028 · Cited by 101 · see citing works
Therapeutic trends in pancreatic ductal adenocarcinoma (PDAC)
Chandana, S. R., Babiker, H. M., & Mahadevan, D. (2018) · Expert Opinion on Investigational Drugs · doi:10.1080/13543784.2019.1557145 · Cited by 98 · see citing works
Tamura, K., Yu, J., Hata, T., Suenaga, M., Shindo, K., Abe, T., MacGregor-Das, A., Borges, M., Wolfgang, C. L., Weiss, M. J., et al. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1720588115 · Cited by 95 · see citing works
Self-citationCombating pancreatic cancer with PI3K pathway inhibitors in the era of personalised medicine
Conway, J. R. W., Herrmann, D., Evans, T. J., Morton, J. P., & Timpson, P. (2018) · Gut · doi:10.1136/gutjnl-2018-316822 · Cited by 93 · see citing works
Genetics of familial and sporadic pancreatic cancer
Wood, L. D., Yurgelun, M. B., & Goggins, M. G. (2019) · Gastroenterology · doi:10.1053/j.gastro.2018.12.039 · Cited by 91 · see citing works
Self-citationRisk of Pancreatic Cancer Among Individuals With Pathogenic Variants in the <i>ATM</i> Gene
Hsu, F.-C., Roberts, N. J., Childs, E., Porter, N., Rabe, K. G., Borgida, A., Ukaegbu, C., Goggins, M. G., Hruban, R. H., Zogopoulos, G., et al. (2021) · JAMA Oncology · doi:10.1001/jamaoncol.2021.3701 · Cited by 91 · see citing works
Self-citationParikh, A. R., He, Y., Hong, T. S., Corcoran, R. B., Clark, J. W., Ryan, D. P., Zou, L., Ting, D. T., Catenacci, D. V. T., Chao, J., et al. (2019) · The Oncologist · doi:10.1634/theoncologist.2019-0034 · Cited by 92 · see citing works
Self-citationProspective study of germline genetic testing in incident cases of pancreatic adenocarcinoma
Brand, R. E., Borazanci, E. H., Speare, V., Dudley, B., Karloski, E., Peters, M. L. B., Stobie, L., Bahary, N., Zeh, H. J., Zureikat, A. H., et al. (2018) · Cancer · doi:10.1002/cncr.31628 · Cited by 88 · see citing works
Self-citationMetabolic Dependencies in Pancreatic Cancer
Gohar, A. V., Zarei, M., Brody, J. R., & Winter, J. M. (2018) · Frontiers in Oncology · doi:10.3389/fonc.2018.00617 · Cited by 87 · see citing works
BRCA1/BRCA2 Germline Mutation Carriers and Sporadic Pancreatic Ductal Adenocarcinoma
Blair, A. B., Groot, V. P., Gemenetzis, G., Wei, J., Cameron, J. L., Weiss, M. J., Goggins, M., Wolfgang, C. L., Yu, J., & He, J. P. (2018) · Journal of the American College of Surgeons · doi:10.1016/j.jamcollsurg.2017.12.021 · Cited by 85 · see citing works
Self-citationAssessing aneuploidy with repetitive element sequencing
Douville, C. B., Cohen, J. D., Ptak, J., Popoli, M., Schaefer, J., Silliman, N., Dobbyn, L., Schoen, R. E., Tie, J., Gibbs, P., et al. (2020) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1910041117 · Cited by 82 · see citing works
Self-citationAdvances in Pancreatic Ductal Adenocarcinoma Treatment
Anderson, E. M., Thomassian, S., Gong, J., Hendifar, A. E., & Osipov, A. (2021) · Cancers · doi:10.3390/cancers13215510 · Cited by 78 · see citing works
HNF1A recruits KDM6A to activate differentiated acinar cell programs that suppress pancreatic cancer
Kalisz, M., Bernardo, E., Beucher, A., Maestro, M. A., del Pozo, N., Millán, I., Haeberle, L., Schlensog, M., Safi, S. A., Knoefel, W. T., et al. (2020) · The EMBO Journal · doi:10.15252/embj.2019102808 · Cited by 77 · see citing works
Germline mutations in Japanese familial pancreatic cancer patients
Takai, E., Yachida, S., Shimizu, K., Furuse, J., Kubo, E., Ohmoto, A., Suzuki, M., Hruban, R. H., Okusaka, T., Morizane, C., et al. (2016) · Oncotarget · doi:10.18632/oncotarget.12490 · Cited by 73 · see citing works
Self-citationEthical concerns on sharing genomic data including patients’ family members
Takashima, K., Maru, Y., Mori, S., Mano, H., Noda, T., & Muto, K. (2018) · BMC Medical Ethics · doi:10.1186/s12910-018-0310-5 · Cited by 72 · see citing works
Germline genetic variability in pancreatic cancer risk and prognosis
Gentiluomo, M., Canzian, F., Nicolini, A., Gemignani, F., Landi, S., & Campa, D. (2020) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2020.08.003 · Cited by 65 · see citing works
The Role of Inherited Pathogenic CDKN2A Variants in Susceptibility to Pancreatic Cancer
Kimura, H., Klein, A. P., Hruban, R. H., & Roberts, N. J. (2021) · Pancreas · doi:10.1097/mpa.0000000000001888 · Cited by 65 · see citing works
Self-citationSkaro, M. F., Nanda, N., Gauthier, C. D., Felsenstein, M., Jiang, Z., Qiu, M., Shindo, K., Yu, J., Hutchings, D., Javed, A. A., et al. (2019) · Gastroenterology · doi:10.1053/j.gastro.2019.01.254 · Cited by 65 · see citing works
Self-citationJøergensen, M. T., Gerdes, A., Sørensen, J. R., de Muckadell, O. B. S., & Mortensen, M. B. (2016) · Pancreatology · doi:10.1016/j.pan.2016.03.013 · Cited by 63 · see citing works
Family history of cancer, Ashkenazi Jewish ancestry, and pancreatic cancer risk
Hamada, T., Yuan, C., Yurgelun, M. B., Perez, K., Khalaf, N., Morales-Oyarvide, V., Babic, A., Nowak, J. A., Rubinson, D. A., Giannakis, M., et al. (2019) · British Journal of Cancer · doi:10.1038/s41416-019-0426-5 · Cited by 61 · see citing works
Loss of DNA Damage Response in Neuroblastoma and Utility of a PARP Inhibitor
Takagi, M., Yoshida, M., Nemoto, Y., Tamaichi, H., Tsuchida, R., Seki, M., Uryu, K., Hoshino, N., Nishii, R., Miyamoto, S., et al. (2017) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djx062 · Cited by 61 · see citing works
Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes
Hu, C., LaDuca, H., Shimelis, H., Polley, E. C., Lilyquist, J., Hart, S. N., Na, J., Thomas, A., Lee, K. Y., Davis, B. T., et al. (2018) · JCO Precision Oncology · doi:10.1200/po.17.00291 · Cited by 58 · see citing works
Ohmoto, A., Yachida, S., & Morizane, C. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20030561 · Cited by 56 · see citing works
Bazzichetto, C., Luchini, C., Conciatori, F., Vaccaro, V., Cello, I. D., Mattiolo, P., Falcone, I., Ferretti, G., Scarpa, A., Cognetti, F., et al. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21228841 · Cited by 56 · see citing works
Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer
Nissim, S., Leshchiner, I., Mancias, J. D., Greenblatt, M. B., Maertens, O., Cassa, C. A., Rosenfeld, J. A., Cox, A. G., Hedgepeth, J., Wucherpfennig, J. I., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0475-y · Cited by 54 · see citing works
Self-citationNew Developments in the Molecular Mechanisms of Pancreatic Tumorigenesis
Felsenstein, M., Hruban, R. H., & Wood, L. D. (2017) · Advances in Anatomic Pathology · doi:10.1097/pap.0000000000000172 · Cited by 54 · see citing works
Self-citationThe Significance of Liquid Biopsy in Pancreatic Cancer
Qi, Z.-H., Xu, H., Zhang, S.-R., Xu, J.-Z., Li, S., Gao, H.-L., Jin, W., Wang, W.-Q., Wu, C., Ni, Q., et al. (2018) · Journal of Cancer · doi:10.7150/jca.24591 · Cited by 53 · see citing works
Epigenetic Alterations in Pancreatic Cancer Metastasis
Wang, S. S., Xu, J., Ji, K. Y., & Hwang, C. (2021) · Biomolecules · doi:10.3390/biom11081082 · Cited by 49 · see citing works
Abe, K., Kitago, M., Kitagawa, Y., & Hirasawa, A. (2021) · International Journal of Clinical Oncology · doi:10.1007/s10147-021-02015-6 · Cited by 52 · see citing works
Rebelatto, T. F., Falavigna, M., Pozzari, M., Spada, F., Cella, C. A., Laffi, A., Pellicori, S., & Fazio, N. (2019) · Cancer Treatment Reviews · doi:10.1016/j.ctrv.2019.101895 · Cited by 50 · see citing works
Earl, J., Galindo-Pumariño, C., Encinas, J., Barreto, E., Castillo, M. E., Pachón, V., Ferreiro, R., Rodríguez-Garrote, M., González-Martínez, S., y Cajal, T. R., et al. (2020) · EBioMedicine · doi:10.1016/j.ebiom.2020.102675 · Cited by 50 · see citing works
Afghani, E., & Klein, A. P. (2022) · Hematology/Oncology Clinics of North America · doi:10.1016/j.hoc.2022.07.002 · Cited by 54 · see citing works
Self-citationDrosos, Y., Escobar, D. J., Chiang, M.-Y., Roys, K., Valentine, V. A., Valentine, M., Rehg, J., Sahai, V., Begley, L., Ye, J., et al. (2017) · Scientific Reports · doi:10.1038/s41598-017-11661-8 · Cited by 43 · see citing works
Non-coding RNAs in Pancreatic Ductal Adenocarcinoma
Gong, R., & Jiang, Y. (2020) · Frontiers in Oncology · doi:10.3389/fonc.2020.00309 · Cited by 49 · see citing works
Germline Variants and Risk for Pancreatic Cancer
Zhan, W., Shelton, C. A., Greer, P. J., Brand, R. E., & Whitcomb, D. C. (2018) · Pancreas · doi:10.1097/mpa.0000000000001136 · Cited by 48 · see citing works
Self-citationFamilial Pancreatic Cancer: Current Perspectives
Llach, J., Carballal, S., & Moreira, L. (2020) · Cancer Management and Research · doi:10.2147/cmar.s172421 · Cited by 48 · see citing works
Glycoprotein biomarkers for the detection of pancreatic ductal adenocarcinoma
Llop, E., Guerrero, P. E., Duran, A., Barrabés, S., Massaguer, A., Ferri, M. J., Albiol-Quer, M., Llorens, R., & Peracaula, R. (2018) · World Journal of Gastroenterology · doi:10.3748/wjg.v24.i24.2537 · Cited by 47 · see citing works
Hahn, M., Vreede, L., Bemelmans, S. A. S. A., van der Looij, E., van Kessel, A. G., Schackert, H. K., Ligtenberg, M. J. L., Hoogerbrugge, N., Kuiper, R. P., & de Voer, R. M. (2016) · Genes Chromosomes and Cancer · doi:10.1002/gcc.22385 · Cited by 46 · see citing works
Exome-Wide Association Study of Pancreatic Cancer Risk
Grant, R. C., Denroche, R. E., Borgida, A., Virtanen, C., Cook, N., Smith, A. L., Connor, A. A., Wilson, J. M., Peterson, G., Roberts, N. J., et al. (2017) · Gastroenterology · doi:10.1053/j.gastro.2017.10.015 · Cited by 46 · see citing works
Self-citationMiR-377 inhibits the proliferation of pancreatic cancer by targeting Pim-3
Chang, W., Liu, M., Xu, J., Fu, H., Zhou, B., Yuan, T., & Chen, P. (2016) · Tumor Biology · doi:10.1007/s13277-016-5295-4 · Cited by 45 · see citing works
Next-Generation Sequencing in Pancreatic Cancer
Shen, G.-Q., Aleassa, E. M., Walsh, R. M., & Morris‐Stiff, G. J. (2019) · Pancreas · doi:10.1097/mpa.0000000000001324 · Cited by 45 · see citing works
The genomic landscape of familial glioma
Choi, D., Armstrong, G., Lozzi, B., Vijayaraghavan, P., Plon, S. E., Wong, T. C., Boerwinkle, E., Muzny, D. M., Chen, H., Gibbs, R. A., et al. (2023) · Science Advances · doi:10.1126/sciadv.ade2675 · Cited by 45 · see citing works
Self-citationPancreatic cancer: molecular pathogenesis and emerging therapeutic strategies
Rozengurt, E., & Eibl, G. (2026) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-025-02499-y · Cited by 45 · see citing works
Goldstein, J. B., Zhao, L., Wang, X., Ghelman, Y., Overman, M. J., Javle, M. M., Shroff, R. T., Varadhachary, G. R., Wolff, R. A., McAllister, F. M., et al. (2019) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-19-0224 · Cited by 45 · see citing works
Singh, K., Pruski, M. A., Bland, R., Younes, M., Guha, S., Thosani, N. C., Maitra, A., Cash, B. D., McAllister, F. M., Logsdon, C. D., et al. (2020) · Laboratory Investigation · doi:10.1038/s41374-020-00490-5 · Cited by 44 · see citing works
Targeting DNA damage repair pathways in pancreas cancer
Crowley, F., Park, W., & O’Reilly, E. M. (2021) · Cancer and Metastasis Reviews · doi:10.1007/s10555-021-09983-1 · Cited by 43 · see citing works
Porter, N. R., Laheru, D. A., Lau, B. M., He, J. P., Zheng, L., Narang, A. K., Roberts, N. J., Canto, M. I., Lennon, A. M., Goggins, M., et al. (2022) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djac167 · Cited by 42 · see citing works
Self-citationChen, F., Roberts, N. J., & Klein, A. P. (2017) · Chinese Clinical Oncology · doi:10.21037/cco.2017.12.04 · Cited by 42 · see citing works
Self-citationAlcaide, M., Cheung, M. C., Bushell, K. R., Arthur, S. E., Wong, H., Karasinska, J. M., Renouf, D. J., Schaeffer, D. F., McNamara, S., du Tertre, M. C., et al. (2018) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2018.09.007 · Cited by 42 · see citing works
Cremin, C., Lee, M. K. C., Hong, Q., Hoeschen, C., Mackenzie, A., Dixon, K., McCullum, M., Nuk, J., Kalloger, S. E., Karasinska, J. M., et al. (2020) · Cancer Medicine · doi:10.1002/cam4.2973 · Cited by 40 · see citing works
Bhat, I. A., Kabeer, S. W., Reza, M. I., Mir, R. H., & Dar, M. O. (2019) · Current Molecular Pharmacology · doi:10.2174/1874467212666191022102800 · Cited by 39 · see citing works
Tarannum, M., Hossain, M. A., Holmes, B. M., Yan, S., Mukherjee, P., & Vivero-Escoto, J. L. (2021) · Small · doi:10.1002/smll.202104449 · Cited by 42 · see citing works
Molina‐Montes, E., Gómez-Rubio, P., Márquez, M., Rava, M., Löhr, M. J., Michalski, C. W., Molero, X., Farré, A., Perea, J., Greenhalf, W., et al. (2018) · International Journal of Epidemiology · doi:10.1093/ije/dyx269 · Cited by 39 · see citing works
Perkail, S., Andricovich, J., Yan, K., & Tzatsos, A. (2020) · Nature Communications · doi:10.1038/s41467-020-16589-8 · Cited by 39 · see citing works
Thompson, E. D., Roberts, N. J., Wood, L. D., Eshleman, J. R., Goggins, M., Kern, S. E., Klein, A. P., & Hruban, R. H. (2020) · Modern Pathology · doi:10.1038/s41379-020-0629-6 · Cited by 39 · see citing works
Self-citationHuang, H., He, M., Zhang, Y., Zhang, B., Niu, Z., Zheng, Y., Li, W., Cui, P., Wang, X., & Sun, Q. (2020) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-020-00346-w · Cited by 39 · see citing works
Molecular and Metabolic Subtypes Correspondence for Pancreatic Ductal Adenocarcinoma Classification
Espiau-Romera, P., Courtois, S., Parejo-Alonso, B., & Sancho, P. (2020) · Journal of Clinical Medicine · doi:10.3390/jcm9124128 · Cited by 38 · see citing works
Genomic Heterogeneity of Pancreatic Ductal Adenocarcinoma and Its Clinical Impact
Gutiérrez, M. L., Muñoz‐Bellvís, L., & Órfão, A. (2021) · Cancers · doi:10.3390/cancers13174451 · Cited by 38 · see citing works
Exosomal long non-coding RNAs in the diagnosis and oncogenesis of pancreatic cancer
Robless, E. E., Howard, J. A., Casari, I., & Falasca, M. (2020) · Cancer Letters · doi:10.1016/j.canlet.2020.12.005 · Cited by 37 · see citing works
Jellas, K. E., Hoem, D., Hagen, K. G., Kalvenes, M. B., Aziz, S. M., Steine, S. J., Immervoll, H., Johansson, S., & Molven, A. (2017) · Cancer Medicine · doi:10.1002/cam4.1097 · Cited by 37 · see citing works
Luongo, M., Marinelli, O., Zeppa, L., Aguzzi, C., Morelli, M. B., Amantini, C., Frassineti, A., di Costanzo, M., Fanelli, A., Santoni, G., et al. (2020) · Cancers · doi:10.3390/cancers12102774 · Cited by 37 · see citing works
Hereditary pancreatic cancer: related syndromes and clinical perspective
Carrera, S., Sancho, A., Azkona, E., Azkuna, J., & López-Vivanco, G. (2017) · Hereditary Cancer in Clinical Practice · doi:10.1186/s13053-017-0069-6 · Cited by 36 · see citing works
Surveillance for pancreatic cancer in high‐risk individuals
Konings, I. C. A. W., Canto, M. I., Almario, J. A., Harinck, F., Saxena, P., Lucas, A. L., Kastrinos, F., Whitcomb, D. C., Brand, R. E., Lachter, J., et al. (2019) · BJS Open · doi:10.1002/bjs5.50180 · Cited by 36 · see citing works
Self-citationPan, M., Jiang, C., Zhang, Z., Achacoso, N. S., Alexeeff, S., Solorzano, A. V., Tse, P., Chung, E. H., Sundaresan, T. K., Suga, J. M., et al. (2023) · JCO Precision Oncology · doi:10.1200/po.22.00570 · Cited by 36 · see citing works
Glycogen synthase kinase-3β: a novel therapeutic target for pancreatic cancer
Ding, L., & Billadeau, D. D. (2020) · Expert Opinion on Therapeutic Targets · doi:10.1080/14728222.2020.1743681 · Cited by 35 · see citing works
Lim, C. H., Cho, Y. S., Choi, J. Y., Lee, K.-H., Lee, J. K., Min, J. H., & Hyun, S. H. (2020) · European Journal of Nuclear Medicine and Molecular Imaging · doi:10.1007/s00259-020-04698-x · Cited by 35 · see citing works
- Authors
- Roberts, N. J., Norris, A. L., Petersen, G. M., Bondy, M. L., Brand, R., Gallinger, S., Kurtz, R. C., Olson, S. H., Rustgi, A. K., Schwartz, A. G., Stoffel, E., Syngal, S., Zogopoulos, G., Ali, S. Z., Axilbund, J., Chaffee, K. G., Chen, Y.-C., Cote, M. L., Childs, E. J., Douville, C., Goes, F. S., Herman, J. M., Iacobuzio-Donahue, C., Kramer, M., Makohon-Moore, A., McCombie, R. W., McMahon, K. W., Niknafs, N., Parla, J., Pirooznia, M., Potash, J. B., Rhim, A. D., Smith, A. L., Wang, Y., Wolfgang, C. L., Wood, L. D., Zandi, P. P., Goggins, M., Karchin, R., Eshleman, J. R., Papadopoulos, N., Kinzler, K. W., Vogelstein, B., Hruban, R. H., & Klein, A. P.
- Affiliations
- Howard Hughes Medical Institute (US)
- Johns Hopkins University (US)
- Mayo Clinic (US)
- Baylor College of Medicine (US)
- University of Pittsburgh (US)
- 6Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada.
- Memorial Sloan Kettering Cancer Center (US)
- Abramson Cancer Center (US)
- Wayne State University (US)
- University of Michigan (US)
- Brigham and Women's Hospital (US)
- Research Institute of the McGill University Health Centre (CA)
- 3Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota.
- 15Department of Biomedical Engineering, Institute for Computational Medicine, Johns Hopkins University, Baltimore, Maryland.
- 10Karmanos Cancer Institute, Wayne State University School of Medicine, Detroit, Michigan.
- 19Memorial Sloan Kettering Cancer Center, New York, New York.
- Cold Spring Harbor Laboratory (US)
- 20Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York.
- University of Iowa (US)
- Corresponding author
- Roberts, Nicholas J.
- Kinzler, Kenneth W.
- Vogelstein, Bert
- Hruban, Ralph H.
- Klein, Alison P.
- ORCID
- Roberts, Nicholas J.
- Norris, Alexis L.
- Petersen, Gloria M.
- Bondy, Melissa L.
- Brand, Randall
- Kurtz, Robert C.
- Olson, Sara H.
- Rustgi, Anil K.
- Schwartz, Ann G.
- Stoffel, Elena
- Syngal, Sapna
- Zogopoulos, George
- Ali, Syed Z.
- Douville, Christopher
- Goes, Fernando S.
- Herman, Joseph M.
- Kramer, Melissa
- Makohon-Moore, Alvin
- Niknafs, Noushin
- Pirooznia, Mehdi
- Potash, James B.
- Rhim, Andrew D.
- Smith, Alyssa L.
- Wang, Yuxuan
- Wolfgang, Christopher L.
- Wood, Laura D.
- Zandi, Peter P.
- Goggins, Michael
- Karchin, Rachel
- Eshleman, James R.
- Papadopoulos, Nickolas
- Kinzler, Kenneth W.
- Vogelstein, Bert
- Hruban, Ralph H.
- Klein, Alison P.
- Venue
- Cancer Discovery
- Published
- 2016-02-01
- Volume
- 6
- Issue
- 2
- Pages
- 166-175
- ISSN
- 2159-8274 (ISSN-L)
- 2159-8290
- PMC
- PMC4744563
- OpenAlex
- W2232697670
- Cited by
- 361
- References
- 49
- Citations by year
- 2026: 13 · 2025: 16 · 2024: 42 · 2023: 33 · 2022: 30 · 2021: 58 · 2020: 41 · 2019: 43 · 2018: 35 · 2017: 32 · 2016: 18
- FWCI
- 12.37
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Cancer Discovery (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Cold Spring Harbor Laboratory Institutional Repository (Cold Spring Harbor Laboratory) (submittedVersion)
- Funders
- Howard Hughes Medical Institute
- National Institutes of Health (UL1TR000371, 5p30ca045508-35)
- National Institute of Mental Health (R01MH087979, K01MH093809)
- National Cancer Institute (K99CA190889, R01CA-97075, R01-CA57345, R01CA154823, R00CA190889, R37CA043460, P50CA102701, R01CA057345, P30-CA045508, R01CA097075, R01CA177857, P50CA062924, R37CA057345, P30CA008748, P30CA015083, P30CA006973)
- National Institute of General Medical Sciences (T32GM007309, T32GM007057, T32GM008752)
- National Institute of Diabetes and Digestive and Kidney Diseases (R01DK060694)
- National Center for Advancing Translational Sciences
- Topics
- Health Sciences › Medicine › Oncology › Pancreatic and Hepatic Oncology Research
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Keywords
- familial pancreatic cancer, pancreatic ductal adenocarcinoma, germline mutations, cancer susceptibility genes, BRCA2, CDKN2A, ATM, somatic mutations, hematopoietic cells, genetic heterogeneity, hereditary cancer predisposition, rare deleterious variants
- MeSH terms
- Carcinoma, Humans, Pancreatic Neoplasms, Point Mutation, Sequence Analysis, DNA, Germ-Line Mutation, Cyclin-Dependent Kinase Inhibitor p16, Genetic Predisposition to Disease, BRCA2 Protein, Ataxia Telangiectasia Mutated 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
