{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T06:59:11Z","timestamp":1772261951514,"version":"3.50.1"},"reference-count":73,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,1,13]],"date-time":"2025-01-13T00:00:00Z","timestamp":1736726400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2025,1,13]],"date-time":"2025-01-13T00:00:00Z","timestamp":1736726400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"name":"Jan Kochanowski University of Kielce, Poland","award":["SUPS.RN.24.015"],"award-info":[{"award-number":["SUPS.RN.24.015"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"DOI":"10.1038\/s41598-025-86249-8","type":"journal-article","created":{"date-parts":[[2025,1,13]],"date-time":"2025-01-13T06:58:13Z","timestamp":1736751493000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["The known genetic variants of BRCA1, BRCA2 and NOD2 in pancreatitis and pancreatic cancer risk assessment"],"prefix":"10.1038","volume":"15","author":[{"given":"Jaros\u0142aw","family":"Matykiewicz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wioletta","family":"Adamus-Bia\u0142ek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monika","family":"Wawszczak-Kasza","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bartosz","family":"Molasy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Magdalena","family":"Ko\u0142oma\u0144ska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rus\u0142an","family":"Oblap","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u0141ukasz","family":"Madej","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorota","family":"Kozie\u0142","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stanis\u0142aw","family":"G\u0142uszek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,1,13]]},"reference":[{"key":"86249_CR1","doi-asserted-by":"publisher","unstructured":"Le Cosquer, G. et al. Pancreatic cancer in chronic pancreatitis: pathogenesis and diagnostic approach. Cancers 15, 761. https:\/\/doi.org\/10.3390\/cancers15030761 (2023).","DOI":"10.3390\/cancers15030761"},{"key":"86249_CR2","doi-asserted-by":"publisher","first-page":"101647","DOI":"10.1016\/j.canep.2019.101647","volume":"64","author":"J Kirkeg\u00e5rd","year":"2020","unstructured":"Kirkeg\u00e5rd, J. et al. Acute pancreatitis as an early marker of pancreatic cancer and cancer stage, treatment, and prognosis. Cancer Epidemiol. 64, 101647. https:\/\/doi.org\/10.1016\/j.canep.2019.101647 (2020).","journal-title":"Cancer Epidemiol."},{"issue":"3","key":"86249_CR3","doi-asserted-by":"publisher","first-page":"584","DOI":"10.1016\/j.surg.2016.11.014","volume":"161","author":"C Bassi","year":"2017","unstructured":"Bassi, C. et al. The 2016 update of the International Study Group (ISGPS) definition and grading of postoperative pancreatic fistula: 11 years after. Surg. (United States). 161 (3), 584\u2013591. https:\/\/doi.org\/10.1016\/j.surg.2016.11.014 (2017).","journal-title":"Surg. (United States)"},{"key":"86249_CR4","doi-asserted-by":"publisher","first-page":"3148","DOI":"10.3748\/wjg.v27.i23.3148","volume":"27","author":"DS Umans","year":"2021","unstructured":"Umans, D. S. et al. Pancreatitis and pancreatic cancer: a case of the chicken or the egg. World J. Gastroenterol. 27, 3148\u20133157. https:\/\/doi.org\/10.3748\/wjg.v27.i23.3148 (2021).","journal-title":"World J. Gastroenterol."},{"key":"86249_CR5","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1159\/000050651","volume":"19","author":"M Ebert","year":"2001","unstructured":"Ebert, M., Schandl, L. & Schmid, R. M. Differentiation of chronic pancreatitis from pancreatic Cancer: recent advances in molecular diagnosis. Dig. Dis. 19, 32\u201336 (2001).","journal-title":"Dig. Dis."},{"key":"86249_CR6","doi-asserted-by":"publisher","first-page":"1039","DOI":"10.1056\/NEJMra1404198","volume":"371","author":"DP Ryan","year":"2014","unstructured":"Ryan, D. P., Hong, T. S. & Bardeesy, N. Pancreatic adenocarcinoma. N. Engl. J. Med. 371, 1039\u20131049 (2014).","journal-title":"N. Engl. J. Med."},{"key":"86249_CR7","doi-asserted-by":"publisher","first-page":"556","DOI":"10.1038\/s41467-018-02942-5","volume":"9","author":"AP Klein","year":"2018","unstructured":"Klein, A. P. et al. Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer. Nat. Commun. 9, 556 (2018).","journal-title":"Nat. Commun."},{"key":"86249_CR8","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1007\/s10565-019-09465-9","volume":"35","author":"D Ansari","year":"2019","unstructured":"Ansari, D., Tor\u00e9n, W., Zhou, Q., Hu, D. & Andersson, R. Proteomic and genomic profiling of pancreatic cancer. Cell Biol. Toxicol. 35, 333\u2013343 (2019).","journal-title":"Cell Biol. Toxicol."},{"key":"86249_CR9","doi-asserted-by":"publisher","first-page":"428","DOI":"10.1097\/MOG.0000000000000665","volume":"36","author":"CA Shelton","year":"2020","unstructured":"Shelton, C. A. & Whitcomb, D. C. Precision medicine for pancreatic diseases. Curr. Opin. Gastroenterol. 36, 428\u2013436 (2020).","journal-title":"Curr. Opin. Gastroenterol."},{"key":"86249_CR10","doi-asserted-by":"publisher","first-page":"469","DOI":"10.1038\/s41575-021-00463-z","volume":"18","author":"A Hayashi","year":"2021","unstructured":"Hayashi, A., Hong, J. & Iacobuzio-Donahue, C. A. The pancreatic cancer genome revisited. Nat. Rev. Gastroenterol. Hepatol. 18, 469\u2013481 (2021).","journal-title":"Nat. Rev. Gastroenterol. Hepatol."},{"key":"86249_CR11","doi-asserted-by":"publisher","first-page":"1729","DOI":"10.1016\/j.cell.2023.02.014","volume":"186","author":"CJ Halbrook","year":"2023","unstructured":"Halbrook, C. J., Lyssiotis, C. A., di Pasca, M. & Maitra, A. Pancreatic cancer: advances and challenges. Cell 186, 1729\u20131754 (2023).","journal-title":"Cell"},{"key":"86249_CR12","doi-asserted-by":"publisher","first-page":"1115660","DOI":"10.3389\/fgene.2023.1115660","volume":"14","author":"K Guo","year":"2023","unstructured":"Guo, K. et al. Exploring the key genetic association between chronic pancreatitis and pancreatic ductal adenocarcinoma through integrated bioinformatics. Front. Genet. 14, 1115660. https:\/\/doi.org\/10.3389\/fgene.2023.1115660 (2023).","journal-title":"Front. Genet."},{"key":"86249_CR13","doi-asserted-by":"publisher","first-page":"1434","DOI":"10.1016\/j.pan.2021.09.005","volume":"21","author":"G Oracz","year":"2021","unstructured":"Oracz, G. et al. Loss of function TRPV6 variants are associated with chronic pancreatitis in nonalcoholic early-onset Polish and German patients. Pancreatology 21, 1434\u20131442 (2021).","journal-title":"Pancreatology"},{"key":"86249_CR14","doi-asserted-by":"publisher","first-page":"924","DOI":"10.1097\/MPA.0000000000001136","volume":"47","author":"W Zhan","year":"2018","unstructured":"Zhan, W., Shelton, C. A., Greer, P. J., Brand, R. E. & Whitcomb, D. C. Germline variants and risk for pancreatic Cancer. Pancreas 47, 924\u2013936 (2018).","journal-title":"Pancreas"},{"key":"86249_CR15","doi-asserted-by":"publisher","first-page":"2544","DOI":"10.1038\/s41379-020-0629-6","volume":"33","author":"ED Thompson","year":"2020","unstructured":"Thompson, E. D. et al. The genetics of ductal adenocarcinoma of the pancreas in the year 2020: dramatic progress, but far to go. Mod. Pathol. 33, 2544\u20132563. https:\/\/doi.org\/10.1038\/s41379-020-0629-6 (2020).","journal-title":"Mod. Pathol."},{"key":"86249_CR16","doi-asserted-by":"publisher","first-page":"1194","DOI":"10.3748\/wjg.v29.i7.1194","volume":"29","author":"WB Strum","year":"2023","unstructured":"Strum, W. B. & Boland, C. R. Advances in acute and chronic pancreatitis. World J. Gastroenterol. 29, 1194\u20131201. https:\/\/doi.org\/10.3748\/wjg.v29.i7.1194 (2023).","journal-title":"World J. Gastroenterol."},{"key":"86249_CR17","doi-asserted-by":"publisher","first-page":"70","DOI":"10.5114\/ms.2018.74823","volume":"34","author":"S G\u0142uszek","year":"2018","unstructured":"G\u0142uszek, S. & Kozie\u0142, D. Genetic determination of pancreatitis. Med. Stud. 34, 70\u201377 (2018).","journal-title":"Med. Stud."},{"key":"86249_CR18","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1053\/j.gastro.2022.09.028","volume":"164","author":"A Paniccia","year":"2023","unstructured":"Paniccia, A. et al. Prospective, multi-institutional, real-time next-generation sequencing of pancreatic cyst fluid reveals diverse genomic alterations that improve the clinical management of pancreatic cysts. Gastroenterology 164, 117\u2013133e7. https:\/\/doi.org\/10.1053\/j.gastro.2022.09.028 (2023).","journal-title":"Gastroenterology"},{"key":"86249_CR19","doi-asserted-by":"publisher","first-page":"6697","DOI":"10.3390\/ijms23126697","volume":"23","author":"Y Ma","year":"2022","unstructured":"Ma, Y. et al. Loss of Heterozygosity for KrasG12D promotes malignant phenotype of pancreatic ductal adenocarcinoma by activating HIF-2\u03b1-c-Myc-regulated glutamine metabolism. Int. J. Mol. Sci. 23, 6697. https:\/\/doi.org\/10.3390\/ijms23126697 (2022).","journal-title":"Int. J. Mol. Sci."},{"key":"86249_CR20","doi-asserted-by":"publisher","first-page":"599","DOI":"10.1002\/(SICI)1097-0215(19970807)72:4<599::AID-IJC8>3.0.CO;2-L","volume":"72","author":"S Lizard-Nacol","year":"1997","unstructured":"Lizard-Nacol, S. et al. Loss of Heterozygosity at the TP53 gene: independent occurrence from genetic instability events in node-negative breast Cancer. Int. J. Cancer. 72, 599\u2013603 (1997).","journal-title":"Int. J. Cancer"},{"key":"86249_CR21","doi-asserted-by":"publisher","first-page":"1320","DOI":"10.1038\/s41416-024-02825-1","volume":"131","author":"Y Gu","year":"2024","unstructured":"Gu, Y. et al. Impact of clonal TP53 mutations with loss of heterozygosity on adjuvant chemotherapy and immunotherapy in gastric cancer. Br. J. Cancer. 131, 1320\u20131327. https:\/\/doi.org\/10.1038\/s41416-024-02825-1 (2024).","journal-title":"Br. J. Cancer"},{"key":"86249_CR22","doi-asserted-by":"publisher","first-page":"1725","DOI":"10.1038\/s41401-020-00584-2","volume":"42","author":"H Hu","year":"2021","unstructured":"Hu, H. et al. Mutations in key driver genes of pancreatic cancer: molecularly targeted therapies and other clinical implications. Acta Pharmacol. Sin. 42, 1725\u20131741. https:\/\/doi.org\/10.1038\/s41401-020-00584-2 (2021).","journal-title":"Acta Pharmacol. Sin."},{"key":"86249_CR23","doi-asserted-by":"publisher","first-page":"2731","DOI":"10.2147\/CMAR.S211151","volume":"12","author":"W Wong","year":"2020","unstructured":"Wong, W., Raufi, A. G., Safyan, R. A., Bates, S. E. & Manji, G. A. BRCA mutations in pancreas cancer: spectrum, current management, challenges and future prospects. Cancer Manage. Res. 12, 2731\u20132742 (2020).","journal-title":"Cancer Manage. Res."},{"key":"86249_CR24","doi-asserted-by":"publisher","first-page":"5","DOI":"10.21037\/acr-20-83","volume":"5","author":"A Vittal","year":"2021","unstructured":"Vittal, A., Saha, D., Samanta, I. & Kasi, A. CHEK2 mutation in a patient with pancreatic adenocarcinoma\u2014a rare case report. AME Case Rep. 5, 5. https:\/\/doi.org\/10.21037\/acr-20-83 (2021).","journal-title":"AME Case Rep."},{"issue":"3","key":"86249_CR25","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1186\/1897-4287-2-3-149","volume":"2","author":"K Nej","year":"2004","unstructured":"Nej, K. et al. The NOD23020insC mutation and the risk of familial pancreatic cancer? Hered Cancer Clin. Pract. 2 (3), 149\u2013150 (2004).","journal-title":"Hered Cancer Clin. Pract."},{"key":"86249_CR26","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1007\/s12029-022-00821-3","volume":"54","author":"D Hernandez","year":"2023","unstructured":"Hernandez, D., Wagner, F., Hernandez-Villafuerte, K. & Schlander, M. Economic burden of pancreatic cancer in Europe: a literature review. J. Gastrointest. Cancer. 54, 391\u2013407. https:\/\/doi.org\/10.1007\/s12029-022-00821-3 (2023).","journal-title":"J. Gastrointest. Cancer"},{"key":"86249_CR27","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1053\/j.gastro.2021.10.017","volume":"162","author":"AF Peery","year":"2022","unstructured":"Peery, A. F. et al. Burden and cost of gastrointestinal, liver, and pancreatic diseases in the United States: Update 2021. Gastroenterology 162, 621\u2013644 (2022).","journal-title":"Gastroenterology"},{"key":"86249_CR28","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1053\/j.gastro.2021.09.043","volume":"162","author":"JP Iannuzzi","year":"2022","unstructured":"Iannuzzi, J. P. et al. Global incidence of acute pancreatitis is increasing over time: a systematic review and meta-analysis. Gastroenterology 162, 122\u2013134 (2022).","journal-title":"Gastroenterology"},{"key":"86249_CR29","doi-asserted-by":"publisher","first-page":"1","DOI":"10.5114\/ms.2016.58798","volume":"32","author":"D Kozie\u0142","year":"2016","unstructured":"Kozie\u0142, D. & G\u0142uszek, S. Epidemiology of acute pancreatitis in Poland \u2013 selected problems. Med. Stud. 32, 1\u20133 (2016).","journal-title":"Med. Stud."},{"key":"86249_CR30","doi-asserted-by":"publisher","first-page":"229","DOI":"10.3322\/caac.21834","volume":"74","author":"F Bray","year":"2024","unstructured":"Bray, F. et al. Global cancer statistics 2022: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J. Clin. 74, 229\u2013263 (2024).","journal-title":"CA Cancer J. Clin."},{"key":"86249_CR31","doi-asserted-by":"publisher","first-page":"709","DOI":"10.1007\/s00535-022-01911-6","volume":"57","author":"K Shimizu","year":"2022","unstructured":"Shimizu, K. et al. Evidence-based clinical practice guidelines for chronic pancreatitis 2021. J. Gastroenterol. 57, 709\u2013724. https:\/\/doi.org\/10.1007\/s00535-022-01911-6 (2022).","journal-title":"J. Gastroenterol."},{"key":"86249_CR32","doi-asserted-by":"publisher","first-page":"206","DOI":"10.1007\/s00018-023-04855-z","volume":"80","author":"AC Lilly","year":"2023","unstructured":"Lilly, A. C., Astsaturov, I. & Golemis, E. A. Intrapancreatic fat, pancreatitis, and pancreatic cancer. Cell. Mol. Life Sci. 80, 206. https:\/\/doi.org\/10.1007\/s00018-023-04855-z (2023).","journal-title":"Cell. Mol. Life Sci."},{"key":"86249_CR33","doi-asserted-by":"publisher","first-page":"493","DOI":"10.1038\/s41575-021-00457-x","volume":"18","author":"AP Klein","year":"2021","unstructured":"Klein, A. P. Pancreatic cancer epidemiology: understanding the role of lifestyle and inherited risk factors. Nat. Reviews Gastroenterol. Hepatol. 18, 493\u2013502. https:\/\/doi.org\/10.1038\/s41575-021-00457-x (2021).","journal-title":"Nat. Rev. Gastroenterol. Hepatol."},{"key":"86249_CR34","doi-asserted-by":"publisher","first-page":"1251","DOI":"10.1007\/s40265-022-01766-4","volume":"82","author":"P Szatmary","year":"2022","unstructured":"Szatmary, P. et al. Acute pancreatitis: diagnosis and treatment. Drugs 82, 1251\u20131276. https:\/\/doi.org\/10.1007\/s40265-022-01766-4 (2022).","journal-title":"Drugs"},{"key":"86249_CR35","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1097\/MPA.0000000000001762","volume":"50","author":"B Kenner","year":"2021","unstructured":"Kenner, B. et al. Artificial Intelligence and early detection of pancreatic cancer: 2020 summative review. Pancreas 50, 251\u2013279 (2021).","journal-title":"Pancreas"},{"key":"86249_CR36","doi-asserted-by":"publisher","first-page":"1182","DOI":"10.2174\/1871530320666200423095700","volume":"20","author":"HK Kandikattu","year":"2020","unstructured":"Kandikattu, H. K., Venkateshaiah, S. U. & Mishra, A. Chronic pancreatitis and the development of pancreatic Cancer. Endocr. Metab. Immune Disord. Drug Targets. 20, 1182\u20131210 (2020).","journal-title":"Endocr. Metab. Immune Disord. Drug Targets"},{"key":"86249_CR37","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1177\/1533033820962117","volume":"19","author":"ZY Zhao","year":"2020","unstructured":"Zhao, Z. Y. & Liu, W. Pancreatic cancer: a review of risk factors, diagnosis, and treatment. Technol. Cancer Res. Treat. 19, 1\u201313. https:\/\/doi.org\/10.1177\/1533033820962117 (2020).","journal-title":"Technol. Cancer Res. Treat."},{"key":"86249_CR38","doi-asserted-by":"publisher","first-page":"3415","DOI":"10.3390\/ijms19113415","volume":"19","author":"K Kamimura","year":"2018","unstructured":"Kamimura, K., Yokoo, T. & Terai, S. Gene therapy for pancreatic diseases: current status. Int. J. Mol. Sci. 19, 3415. https:\/\/doi.org\/10.3390\/ijms19113415 (2018).","journal-title":"Int. J. Mol. Sci."},{"key":"86249_CR39","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1186\/s40779-022-00416-w","volume":"9","author":"X Huang","year":"2022","unstructured":"Huang, X., Zhang, G., Tang, T. Y., Gao, X. & Liang, T. B. Personalized pancreatic cancer therapy: from the perspective of mRNA vaccine. Military Med. Res. 9, 53. https:\/\/doi.org\/10.1186\/s40779-022-00416-w (2022).","journal-title":"Military Med. Res."},{"key":"86249_CR40","doi-asserted-by":"publisher","first-page":"2129884","DOI":"10.1080\/08941939.2022.2129884","volume":"36","author":"HM Kolbeinsson","year":"2023","unstructured":"Kolbeinsson, H. M., Chandana, S., Wright, G. P. & Chung, M. Pancreatic cancer: a review of current treatment and novel therapies. J. Invest. Surg. 36, 2129884. https:\/\/doi.org\/10.1080\/08941939.2022.2129884 (2023).","journal-title":"J. Investig. Surg."},{"key":"86249_CR41","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1158\/2767-9764.CRC-23-0330","volume":"4","author":"P Bhat-Nakshatri","year":"2024","unstructured":"Bhat-Nakshatri, P. et al. Signaling pathway alterations driven by BRCA1 and BRCA2 germline mutations are sufficient to initiate breast tumorigenesis by the PIK3CAH1047R Oncogene. Cancer Res. Commun. 4, 38\u201354 (2024).","journal-title":"Cancer Res. Commun."},{"key":"86249_CR42","doi-asserted-by":"publisher","first-page":"9463","DOI":"10.3390\/cimb46090561","volume":"46","author":"Z Li","year":"2024","unstructured":"Li, Z. & Shang, D. NOD1 and NOD2: essential monitoring partners in the innate immune system. Curr. Issues Mol. Biol. 46, 9463\u20139479 (2024).","journal-title":"Curr. Issues Mol. Biol."},{"key":"86249_CR43","doi-asserted-by":"publisher","first-page":"731","DOI":"10.1126\/science.1104911","volume":"307","author":"KS Kobayashi","year":"2005","unstructured":"Kobayashi, K. S. et al. Nod2-dependent regulation of innate and adaptive immunity in the intestinal tract. Science 307, 731\u2013734 (2005).","journal-title":"Science"},{"key":"86249_CR44","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1093\/intimm\/dxp017","volume":"21","author":"T Kawai","year":"2009","unstructured":"Kawai, T. & Akira, S. The roles of TLRs, RLRs and NLRs in pathogen recognition. Int. Immunol. 21, 317\u2013337. https:\/\/doi.org\/10.1093\/intimm\/dxp017 (2009).","journal-title":"Int. Immunol."},{"key":"86249_CR45","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1007\/s00296-006-0250-0","volume":"27","author":"TH Kim","year":"2007","unstructured":"Kim, T. H. et al. Altered host:pathogen interactions conferred by the Blau syndrome mutation of NOD2. Rheumatol. Int. 27, 257\u2013262 (2007).","journal-title":"Rheumatol. Int."},{"key":"86249_CR46","doi-asserted-by":"publisher","first-page":"324","DOI":"10.1183\/09031936.00010209","volume":"35","author":"H Sato","year":"2010","unstructured":"Sato, H. et al. CARD15\/NOD2 polymorphisms are associated with severe pulmonary sarcoidosis. Eur. Respir. J. 35, 324\u2013330 (2010).","journal-title":"Eur. Respir. J."},{"key":"86249_CR47","doi-asserted-by":"publisher","first-page":"955","DOI":"10.1016\/j.humimm.2011.06.003","volume":"72","author":"AG Kutikhin","year":"2011","unstructured":"Kutikhin, A. G. Role of NOD1\/CARD4 and NOD2\/CARD15 gene polymorphisms in cancer etiology. Hum. Immunol. 72, 955\u2013968. https:\/\/doi.org\/10.1016\/j.humimm.2011.06.003 (2011).","journal-title":"Hum. Immunol."},{"key":"86249_CR48","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1007\/s10549-005-9057-z","volume":"95","author":"MR Lener","year":"2006","unstructured":"Lener, M. R. et al. Prevalence of the NOD2 3020insC mutation in aggregations of breast and lung cancer. Breast Cancer Res. Treat. 95, 141\u2013145 (2006).","journal-title":"Breast Cancer Res. Treat."},{"key":"86249_CR49","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1186\/1897-4287-3-2-59","volume":"2","author":"J Lubi\u0144ski","year":"2005","unstructured":"Lubi\u0144ski, J. et al. The 3020insC allele of NOD2 predisposes to cancers of multiple organs. Hered Cancer Clin. Pract. 2, 59\u201363 (2005).","journal-title":"Hered Cancer Clin. Pract."},{"issue":"4","key":"86249_CR50","doi-asserted-by":"publisher","first-page":"284","DOI":"10.4240\/wjgs.v8.i4.284","volume":"8","author":"D Branquinho","year":"2016","unstructured":"Branquinho, D., Freire, P. & Sofia, C. NOD2 mutations and colorectal cancer\u2014where do we stand? World J. Gastrointest. Surg. 8 (4), 284\u2013293 (2016).","journal-title":"World J. Gastrointest. Surg."},{"issue":"2","key":"86249_CR51","doi-asserted-by":"publisher","first-page":"e89340","DOI":"10.1371\/journal.pone.0089340","volume":"9","author":"J Liu","year":"2014","unstructured":"Liu, J., He, C., Xu, Q., Xing, C. & Yuan, Y. NOD2 polymorphisms associated with cancer risk: a meta-analysis. PLoS One. 9 (2), e89340. https:\/\/doi.org\/10.1371\/journal.pone.0089340 (2014).","journal-title":"PLoS One"},{"issue":"11","key":"86249_CR52","doi-asserted-by":"publisher","first-page":"e108503","DOI":"10.1371\/journal.pone.0108503","volume":"9","author":"F Schnitzler","year":"2014","unstructured":"Schnitzler, F. et al. The NOD2 p.Leu1007fsX1008 mutation (rs2066847) is a stronger predictor of the clinical course of Crohns disease than the FOXO3A Intron variant rs12212067. PLoS One. 9 (11), e108503. https:\/\/doi.org\/10.1371\/journal.pone.0108503 (2014).","journal-title":"PLoS One"},{"issue":"7","key":"86249_CR53","doi-asserted-by":"publisher","first-page":"e0236421","DOI":"10.1371\/journal.pone.0236421","volume":"15","author":"F Schnitzler","year":"2020","unstructured":"Schnitzler, F. et al. Development of a uniform, very aggressive disease phenotype in all homozygous carriers of the NOD2 mutation p.Leu1007fsX1008 with Crohn\u2019s disease and active smoking status resulting in ileal stenosis requiring surgery. PLoS One. 15 (7), e0236421. https:\/\/doi.org\/10.1371\/journal.pone.0236421 (2020).","journal-title":"PLoS One"},{"key":"86249_CR54","doi-asserted-by":"publisher","first-page":"300","DOI":"10.1016\/S0210-5705(03)70361-6","volume":"26","author":"MD Ant\u00f3n","year":"2003","unstructured":"Ant\u00f3n, M. D. et al. Chronic pancreatitis as the initial presentation of Crohn\u2019s disease. Gastroenterol. Hepatol. 26, 300\u2013302 (2003).","journal-title":"Gastroenterol. Hepatol."},{"issue":"1","key":"86249_CR55","doi-asserted-by":"publisher","first-page":"34","DOI":"10.5114\/wo.2013.33767","volume":"17","author":"M Hartwig","year":"2013","unstructured":"Hartwig, M. et al. Prevalence of the BRCA1 c.6869delAG (BIC: 185delAG) mutation in women with breast cancer from north-central Poland and a review of the literature on other regions of the country. Wspolczesna Onkologia. 17 (1), 34\u201337 (2013).","journal-title":"Wspolczesna Onkologia"},{"issue":"2","key":"86249_CR56","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1038\/mi.2016.101","volume":"10","author":"T Watanabe","year":"2017","unstructured":"Watanabe, T., Kudo, M. & Strober, W. Immunopathogenesis of pancreatitis. Mucosal Immunol. 10 (2), 283\u2013298. https:\/\/doi.org\/10.1038\/mi.2016.101 (2017).","journal-title":"Mucosal Immunol."},{"issue":"1","key":"86249_CR57","doi-asserted-by":"publisher","first-page":"77","DOI":"10.6004\/JNCCN.2021.0001","volume":"19","author":"MB Daly","year":"2021","unstructured":"Daly, M. B. et al. Genetic\/familial high-risk assessment: breast, ovarian, and pancreatic, version 2.2021. JNCCN J. Natl. Compr. Cancer Netw. 19 (1), 77\u2013102. https:\/\/doi.org\/10.6004\/JNCCN.2021.0001 (2021).","journal-title":"JNCCN J. Natl. Compr. Cancer Netw."},{"issue":"2","key":"86249_CR58","first-page":"409","volume":"60","author":"G Lal","year":"2000","unstructured":"Lal, G. et al. Inherited predisposition to pancreatic adenocarcinoma: role of family history and germ-line p16, BRCA1, and BRCA2 mutations. Cancer Res. 60 (2), 409\u2013416 (2000).","journal-title":"Cancer Res."},{"issue":"24","key":"86249_CR59","doi-asserted-by":"publisher","first-page":"4382","DOI":"10.1002\/cncr.29664","volume":"121","author":"EE Salo-Mullen","year":"2015","unstructured":"Salo-Mullen, E. E. et al. Identification of germline genetic mutations in patients with pancreatic cancer. Cancer 121 (24), 4382\u20134388 (2015).","journal-title":"Cancer"},{"issue":"10","key":"86249_CR60","doi-asserted-by":"publisher","first-page":"djy024","DOI":"10.1093\/jnci\/djy024","volume":"110","author":"MA Lowery","year":"2018","unstructured":"Lowery, M. A. et al. Prospective evaluation of germline alterations in patients with exocrine pancreatic neoplasms. J. Natl. Cancer Inst. 110 (10), djy024. https:\/\/doi.org\/10.1093\/jnci\/djy024 (2018).","journal-title":"J. Natl. Cancer Inst."},{"issue":"23","key":"86249_CR61","doi-asserted-by":"publisher","first-page":"2401","DOI":"10.1001\/jama.2018.6228","volume":"319","author":"C Hu","year":"2018","unstructured":"Hu, C. et al. Association between inherited germline mutations in cancer predisposition genes and risk of pancreatic cancer. JAMA J. Am. Med. Assoc.. 319 (23), 2401\u20132409 (2018).","journal-title":"JAMA J. Am. Med. Assoc."},{"key":"86249_CR62","doi-asserted-by":"publisher","first-page":"683","DOI":"10.1002\/ijc.20162","volume":"110","author":"B G\u00f3rski","year":"2004","unstructured":"G\u00f3rski, B. et al. A high proportion of founder BRCA1 mutations in polish breast cancer families. Int. J. Cancer. 110, 683\u2013686 (2004).","journal-title":"Int. J. Cancer"},{"issue":"Supp. 6","key":"86249_CR63","doi-asserted-by":"publisher","first-page":"vi93","DOI":"10.1093\/annonc\/mdm234","volume":"18","author":"R Ferla","year":"2007","unstructured":"Ferla, R. et al. Founder mutations in BRCA1 and BRCA2 genes. Ann. Oncol. 18 (Supp. 6), vi93\u201398. https:\/\/doi.org\/10.1093\/annonc\/mdm234 (2007).","journal-title":"Ann. Oncol."},{"key":"86249_CR64","doi-asserted-by":"publisher","first-page":"844575","DOI":"10.3389\/fendo.2022.844575","volume":"13","author":"H Werner","year":"2022","unstructured":"Werner, H. BRCA1: an endocrine and metabolic regulator. Front. Endocrinol. 13, 844575. https:\/\/doi.org\/10.3389\/fendo.2022.844575 (2022).","journal-title":"Front. Endocrinol."},{"key":"86249_CR65","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1038\/ng1096-185","volume":"14","author":"BB Roa","year":"1996","unstructured":"Roa, B. B., Boyd, A. A., Volcie, K. & Richards, S. C. Ashkenazi jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat. Genet. 14, 185\u2013187 (1996).","journal-title":"Nat. Genet."},{"key":"86249_CR66","doi-asserted-by":"publisher","first-page":"643","DOI":"10.1126\/science.1088759","volume":"302","author":"MC King","year":"2003","unstructured":"King, M. C. et al. Breast and ovarian Cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 302, 643 (2003).","journal-title":"Science"},{"key":"86249_CR67","doi-asserted-by":"publisher","first-page":"941375","DOI":"10.3389\/fgene.2022.941375","volume":"13","author":"A Doraczynska-Kowalik","year":"2022","unstructured":"Doraczynska-Kowalik, A. et al. Detection of BRCA1\/2 pathogenic variants in patients with breast and\/or ovarian cancer and their families. Analysis of 3,458 cases from Lower Silesia (Poland) according to the diagnostic algorithm of the National Cancer Control Programme. Front. Genet. 13, 941375. https:\/\/doi.org\/10.3389\/fgene.2022.941375 (2022).","journal-title":"Front. Genet."},{"key":"86249_CR68","doi-asserted-by":"publisher","first-page":"49","DOI":"10.2147\/JIR.S137606","volume":"11","author":"A Negroni","year":"2018","unstructured":"Negroni, A., Pierdomenico, M., Cucchiara, S. & Stronati, L. NOD2 and inflammation: current insights. J. Inflamm. Res. 11, 49\u201360. https:\/\/doi.org\/10.2147\/JIR.S137606 (2018).","journal-title":"J. Inflamm. Res."},{"key":"86249_CR69","doi-asserted-by":"publisher","first-page":"603","DOI":"10.1038\/35079114","volume":"411","author":"Y Ogura","year":"2001","unstructured":"Ogura, Y. et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn\u2019s disease. Nature 411, 603\u2013606 (2001).","journal-title":"Nature"},{"key":"86249_CR70","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1016\/j.pan.2015.10.013","volume":"16","author":"K Takaori","year":"2016","unstructured":"Takaori, K. et al. International Association of Pancreatology (IAP)\/European Pancreatic Club (EPC) consensus review of guidelines for the treatment of pancreatic cancer. Pancreatology 16, 14\u201327 (2016).","journal-title":"Pancreatology"},{"key":"86249_CR71","doi-asserted-by":"publisher","first-page":"829","DOI":"10.1016\/j.pan.2023.09.001","volume":"23","author":"A Cucchetti","year":"2023","unstructured":"Cucchetti, A. et al. European\u2019 health care indicators and pancreatic cancer incidence and mortality: a mediation analysis of Eurostat data and global burden of Disease Study 2019. Pancreatology 23, 829\u2013835 (2023).","journal-title":"Pancreatology"},{"issue":"32","key":"86249_CR72","doi-asserted-by":"publisher","first-page":"11230","DOI":"10.3748\/wjg.v20.i32.11230","volume":"20","author":"K Okano","year":"2014","unstructured":"Okano, K. & Suzuki, Y. Strategies for early detection of resectable pancreatic cancer. World J. Gastroenterol. 20 (32), 11230\u201311240 (2014).","journal-title":"World J. Gastroenterol."},{"key":"86249_CR73","doi-asserted-by":"publisher","first-page":"805","DOI":"10.1016\/j.pan.2023.08.003","volume":"23","author":"M Altimari","year":"2023","unstructured":"Altimari, M., Wells, A., Abad, J. & Chawla, A. The differential effect of neoadjuvant chemotherapy and chemoradiation on nodal downstaging in pancreatic adenocarcinoma. Pancreatology 23, 805\u2013810 (2023).","journal-title":"Pancreatology"}],"container-title":["Scientific Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41598-025-86249-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-025-86249-8","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-025-86249-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,13]],"date-time":"2025-01-13T18:51:53Z","timestamp":1736794313000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41598-025-86249-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,13]]},"references-count":73,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["86249"],"URL":"https:\/\/doi.org\/10.1038\/s41598-025-86249-8","relation":{},"ISSN":["2045-2322"],"issn-type":[{"value":"2045-2322","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,13]]},"assertion":[{"value":"29 April 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 January 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 January 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"The study complied with the principles of the Declaration of Helsinki. This study was approved by the Bioethics Committee of Collegium Medicum, Jan Kochanowski University of Kielce, Resolution No 1\/2012 from 11.04.2012. All participants were informed of the purpose of the project and planned research. All participants provided informed consent to participate in the project. Table  presents the anonymized project members with detailed characteristics.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and informed consent"}}],"article-number":"1791"}}