{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T16:25:00Z","timestamp":1773851100555,"version":"3.50.1"},"reference-count":93,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T00:00:00Z","timestamp":1773792000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>Background: Pancreatic cancer is a highly lethal malignancy, with a 5-year survival rate of approximately 8%. Roughly 10% of cases occur in individuals with familial pancreatic cancer or identified high-risk germline mutations, including STK11, CDKN2A, BRCA1\/2, MLH1, and MSH2. Aim: We aimed to evaluate the risk of pancreatic cancer associated with inherited genetic mutations and to characterize these genetic syndromes. Methods: A systematic search of the PubMed database up to 2024 identified 1500 articles, of which 90 met the criteria for inclusion in this review. Results: High-risk individuals were defined as those with at least a 10-fold increased risk, moderate risk as 5\u201310-fold and low risk as under 5-fold. High-risk individuals included those with Peutz\u2013Jeghers syndrome (132\u2013140-fold risk), hereditary pancreatitis (50\u201387-fold risk), Familial Atypical Multiple Mole Melanoma syndrome (up to 48-fold risk), hereditary breast and ovarian cancer with BRCA2 mutation (up to 22-fold risk), and familial pancreatic cancer with at least three affected relatives (up to 32-fold risk). Moderate-risk patients had BRCA1, MLH1, MSH2, MSH6, p53, and ATM mutations, as well as familial pancreatic cancer with 1\u20132 affected kindred. Low-risk patients had familial adenomatous polyposis. Conclusions: Identifying high-risk individuals is crucial for effective genetic counseling, testing, and potential screening programs to facilitate early diagnosis and improve outcomes. Future research should prioritize large prospective cohorts, screening programs, and the integration of emerging technologies, such as AI-assisted imaging.<\/jats:p>","DOI":"10.3390\/cancers18060976","type":"journal-article","created":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T10:11:12Z","timestamp":1773828672000},"page":"976","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic Predisposition to Pancreatic Cancer: A Systematic Review of Hereditary Syndromes and Familial Aggregation"],"prefix":"10.3390","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0143-0590","authenticated-orcid":false,"given":"Catalin Sergiu","family":"Baraian","sequence":"first","affiliation":[{"name":"Carol Davila University of Medicine and Pharmacy Bucharest, Clinical Emergency Hospital of Bucharest, 014461 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudiu Stefan","family":"Turculet","sequence":"additional","affiliation":[{"name":"Carol Davila University of Medicine and Pharmacy Bucharest, Clinical Emergency Hospital of Bucharest, 014461 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6950-9599","authenticated-orcid":false,"given":"Ionut","family":"Negoi","sequence":"additional","affiliation":[{"name":"Carol Davila University of Medicine and Pharmacy Bucharest, Clinical Emergency Hospital of Bucharest, 014461 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2026,3,18]]},"reference":[{"key":"ref_1","unstructured":"(2024, October 23). Cancer Today. Available online: https:\/\/gco.iarc.who.int\/today\/."},{"key":"ref_2","unstructured":"(2024, October 23). SURVMARK-2-Viz2. Available online: https:\/\/gco.iarc.fr\/survival\/survmark\/visualizations\/viz2\/?cancer_site=%22Pancreas%22&country=%22United+Kingdom%22&agegroup=%22All%22&gender=%22All%22&interval=%221%22&survival_year=%221%22&measures=%5B%22Incidence+%28ASR%29%22%2C%22Mortality+%28ASR%29%22%2C%22Net+Survival%22%5D."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"3062","DOI":"10.1111\/j.1572-0241.2002.07102.x","article-title":"Challenging Pancreatic Cancer-Prone Pedigrees: A Nosologic Dilemma","volume":"97","author":"Lynch","year":"2002","journal-title":"Am. J. Gastroenterol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1002\/mc.20855","article-title":"Genetic Susceptibility to Pancreatic Cancer","volume":"51","author":"Klein","year":"2012","journal-title":"Mol. Carcinog."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1136\/gutjnl-2019-319352","article-title":"Management of Patients with Increased Risk for Familial Pancreatic Cancer: Updated Recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium","volume":"69","author":"Goggins","year":"2020","journal-title":"Gut"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"439","DOI":"10.6004\/jnccn.2021.0017","article-title":"Pancreatic Adenocarcinoma, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology","volume":"19","author":"Tempero","year":"2021","journal-title":"J. Natl. Compr. Canc. Netw."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"169","DOI":"10.2217\/14796694.3.2.169","article-title":"Hereditary Cancer Syndrome Diagnosis: Molecular Genetic Clues and Cancer Control","volume":"3","author":"Lynch","year":"2007","journal-title":"Future Oncol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1007\/s00534-013-0611-5","article-title":"Clinical Importance of Familial Pancreatic Cancer Registry in Japan: A Report from Kick-off Meeting at International Symposium on Pancreas Cancer 2012","volume":"20","author":"Wada","year":"2013","journal-title":"J. Hepatobiliary Pancreat. Sci."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"n71","DOI":"10.1136\/bmj.n71","article-title":"The PRISMA 2020 Statement: An Updated Guideline for Reporting Systematic Reviews","volume":"372","author":"Page","year":"2021","journal-title":"BMJ"},{"key":"ref_10","unstructured":"(2025, August 09). Assistive and Generative AI Guidelines for Authors. Available online: https:\/\/www.sagepub.com\/about\/policies\/ai-author-guidelines?utm_source=chatgpt.com."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1790","DOI":"10.1001\/jama.2009.1529","article-title":"Risk of Pancreatic Cancer in Families with Lynch Syndrome","volume":"302","author":"Kastrinos","year":"2009","journal-title":"JAMA"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1016\/j.dld.2010.04.016","article-title":"Risk Assessment, Screening Programs and Clinical Approach: A Position Paper from the Italian Registry","volume":"42","author":"Zerbi","year":"2010","journal-title":"Dig. Liver Dis."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1002\/(SICI)1097-0215(19990412)81:2<214::AID-IJC8>3.0.CO;2-L","article-title":"Cancer Risk in Mutation Carriers of DNA-Mismatch-Repair Genes","volume":"81","author":"Aarnio","year":"1999","journal-title":"Int. J. Cancer"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1200\/JCO.2011.39.5590","article-title":"Colorectal and Other Cancer Risks for Carriers and Noncarriers from Families with a DNA Mismatch Repair Gene Mutation: A Prospective Cohort Study","volume":"30","author":"Win","year":"2012","journal-title":"J. Clin. Oncol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1002\/humu.22262","article-title":"Cancer Risks for MLH1 and MSH2 Mutation Carriers","volume":"34","author":"Dowty","year":"2013","journal-title":"Hum. Mutat."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1306","DOI":"10.1136\/gutjnl-2017-314057","article-title":"Cancer Risk and Survival in Path_MMR Carriers by Gene and Gender up to 75 Years of Age: A Report from the Prospective Lynch Syndrome Database","volume":"67","author":"Bernstein","year":"2018","journal-title":"Gut"},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Zalevskaja, K., Mecklin, J.-P., and Sepp\u00e4l\u00e4, T.T. (2023). Clinical Characteristics of Pancreatic and Biliary Tract Cancers in Lynch Syndrome: A Retrospective Analysis from the Finnish National Lynch Syndrome Research Registry. Front. Oncol., 13.","DOI":"10.3389\/fonc.2023.1123901"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"101909","DOI":"10.1016\/j.eclinm.2023.101909","article-title":"Mortality by Age, Gene and Gender in Carriers of Pathogenic Mismatch Repair Gene Variants Receiving Surveillance for Early Cancer Diagnosis and Treatment: A Report from the Prospective Lynch Syndrome Database","volume":"58","author":"Haupt","year":"2023","journal-title":"EClinicalMedicine"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1249","DOI":"10.1007\/s00535-011-0457-z","article-title":"Familial Pancreatic Cancer and Hereditary Syndromes: Screening Strategy for High-Risk Individuals","volume":"46","author":"Matsubayashi","year":"2011","journal-title":"J. Gastroenterol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1038\/s41436-019-0633-8","article-title":"A Clinical Guide to Hereditary Cancer Panel Testing: Evaluation of Gene-Specific Cancer Associations and Sensitivity of Genetic Testing Criteria in a Cohort of 165,000 High-Risk Patients","volume":"22","author":"LaDuca","year":"2020","journal-title":"Genet. Med."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1358","DOI":"10.1093\/jnci\/94.18.1358","article-title":"Breast Cancer Linkage Consortium Cancer Incidence in BRCA1 Mutation Carriers","volume":"94","author":"Thompson","year":"2002","journal-title":"J. Natl. Cancer Inst."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"430","DOI":"10.4143\/crt.2016.217","article-title":"The Prevalence of Founder Mutations among Individuals from Families with Familial Pancreatic Cancer Syndrome","volume":"49","author":"Lener","year":"2017","journal-title":"Cancer Res. Treat."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1038\/ng0596-120","article-title":"Mutation Analysis of the BRCA2 Gene in 49 Site-Specific Breast Cancer Families","volume":"13","author":"Phelan","year":"1996","journal-title":"Nat. Genet."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/j.cancergencyto.2004.01.032","article-title":"BRCA1 and Pancreatic Cancer: Pedigree Findings and Their Causal Relationships","volume":"158","author":"Lynch","year":"2005","journal-title":"Cancer Genet. Cytogenet."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1002\/cncr.29041","article-title":"Cancers Associated WithBRCA1andBRCA2mutations Other than Breast and Ovarian: BRCAand Other Cancers","volume":"121","author":"Mersch","year":"2015","journal-title":"Cancer"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1447","DOI":"10.1053\/gast.2000.20228","article-title":"Very High Risk of Cancer in Familial Peutz-Jeghers Syndrome","volume":"119","author":"Giardiello","year":"2000","journal-title":"Gastroenterology"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1007\/s10689-010-9414-x","article-title":"German National Case Collection for Familial Pancreatic Cancer (FaPaCa): Ten Years Experience","volume":"10","author":"Schneider","year":"2011","journal-title":"Fam. Cancer"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1016\/j.dld.2012.12.018","article-title":"Cancer Risk Associated with STK11\/LKB1 Germline Mutations in Peutz-Jeghers Syndrome Patients: Results of an Italian Multicenter Study","volume":"45","author":"Resta","year":"2013","journal-title":"Dig. Liver Dis."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"3209","DOI":"10.1158\/1078-0432.CCR-06-0083","article-title":"Frequency and Spectrum of Cancers in the Peutz-Jeghers Syndrome","volume":"12","author":"Hearle","year":"2006","journal-title":"Clin. Cancer Res."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1136\/jmg.2009.073429","article-title":"TP53 Germline Mutation Testing in 180 Families Suspected of Li-Fraumeni Syndrome: Mutation Detection Rate and Relative Frequency of Cancers in Different Familial Phenotypes","volume":"47","author":"Ruijs","year":"2010","journal-title":"J. Med. Genet."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1136\/jmg.33.11.889","article-title":"Pancreatic Adenocarcinoma: Epidemiology and Genetics","volume":"33","author":"Flanders","year":"1996","journal-title":"J. Med. Genet."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1158\/1940-6207.CAPR-20-0448","article-title":"Germline Pathogenic Variants in the Ataxia Telangiectasia Mutated (ATM) Gene Are Associated with High and Moderate Risks for Multiple Cancers","volume":"14","author":"Hall","year":"2021","journal-title":"Cancer Prev. Res."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1002\/ijc.1329","article-title":"Cancer Risk in Heterozygotes for Ataxia-Telangiectasia","volume":"93","author":"Janin","year":"2001","journal-title":"Int. J. Cancer"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"2401","DOI":"10.1001\/jama.2018.6228","article-title":"Association between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer","volume":"319","author":"Hu","year":"2018","journal-title":"JAMA"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1001\/jamaoncol.2022.0373","article-title":"Association of Pathogenic Variants in Hereditary Cancer Genes with Multiple Diseases","volume":"8","author":"Zeng","year":"2022","journal-title":"JAMA Oncol."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"663","DOI":"10.6004\/jnccn.2021.7107","article-title":"Is Biannual Surveillance for Pancreatic Cancer Sufficient in Individuals with Genetic Syndromes or Familial Pancreatic Cancer?","volume":"20","author":"Wang","year":"2022","journal-title":"J. Natl. Compr. Canc. Netw."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"1664","DOI":"10.1001\/jamaoncol.2021.3701","article-title":"Risk of Pancreatic Cancer among Individuals with Pathogenic Variants in the ATM Gene","volume":"7","author":"Hsu","year":"2021","journal-title":"JAMA Oncol."},{"key":"ref_38","doi-asserted-by":"crossref","unstructured":"Pasternak-Pietrzak, K., Koz\u0142owska, A., and Moszczy\u0144ska, E. (2024). Hereditary Pheochromocytoma as a Main Manifestation of von Hippel Lindau Disease (VHL) in Childhood\u2014A Long-Term Follow-up of 5 Patients with VHL from One Family. J. Clin. Res. Pediatr. Endocrinol.","DOI":"10.4274\/jcrpe.galenos.2024.2024-2-1"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1148\/133.2.289","article-title":"The Radiographic Manifestations of von Hippel-Lindau Disease","volume":"133","author":"Fill","year":"1979","journal-title":"Radiology"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1007\/s004390050206","article-title":"Mutations in the VHL Tumor Suppressor Gene and Associated Lesions in Families with von Hippel-Lindau Disease from Central Europe","volume":"98","author":"Glavac","year":"1996","journal-title":"Hum. Genet."},{"key":"ref_41","first-page":"738","article-title":"Increased Risk of Incident Pancreatic Cancer among First-Degree Relatives of Patients with Familial Pancreatic Cancer","volume":"7","author":"Tersmette","year":"2001","journal-title":"Clin. Cancer Res."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1002\/cncr.21166","article-title":"Risk of Malignancy in First-Degree Relatives of Patients with Pancreatic Carcinoma","volume":"104","author":"McWilliams","year":"2005","journal-title":"Cancer"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1002\/ijc.10863","article-title":"Familial and Second Primary Pancreatic Cancers: A Nationwide Epidemiologic Study from Sweden","volume":"103","author":"Hemminki","year":"2003","journal-title":"Int. J. Cancer"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"2634","DOI":"10.1158\/0008-5472.CAN-03-3823","article-title":"Prospective Risk of Pancreatic Cancer in Familial Pancreatic Cancer Kindreds","volume":"64","author":"Klein","year":"2004","journal-title":"Cancer Res."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1093\/jnci\/djp466","article-title":"Importance of Age of Onset in Pancreatic Cancer Kindreds","volume":"102","author":"Brune","year":"2010","journal-title":"J. Natl. Cancer Inst."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"1830","DOI":"10.1038\/sj.bjc.6690607","article-title":"Diabetes Mellitus, Other Medical Conditions and Familial History of Cancer as Risk Factors for Pancreatic Cancer","volume":"80","author":"Silverman","year":"1999","journal-title":"Br. J. Cancer"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"970","DOI":"10.1056\/NEJM199510123331504","article-title":"Increased Risk of Pancreatic Cancer in Melanoma-Prone Kindreds with P16INK4 Mutations","volume":"333","author":"Goldstein","year":"1995","journal-title":"N. Engl. J. Med."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1002\/1097-0215(20000915)87:6<809::AID-IJC8>3.0.CO;2-U","article-title":"Risk of Developing Pancreatic Cancer in Families with Familial Atypical Multiple Mole Melanoma Associated with a Specific 19 Deletion of P16 (P16-Leiden)","volume":"87","author":"Vasen","year":"2000","journal-title":"Int. J. Cancer"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"7151","DOI":"10.1158\/1078-0432.CCR-08-0403","article-title":"Increased Risk of Cancer Other than Melanoma in CDKN2A Founder Mutation (P16-Leiden)-Positive Melanoma Families","volume":"14","author":"Bishop","year":"2008","journal-title":"Clin. Cancer Res."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1093\/jnci\/89.6.442","article-title":"Hereditary Pancreatitis and the Risk of Pancreatic Cancer. International Hereditary Pancreatitis Study Group","volume":"89","author":"Lowenfels","year":"1997","journal-title":"J. Natl. Cancer Inst."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/S0025-7125(05)70240-6","article-title":"Risk Factors for Cancer in Hereditary Pancreatitis. International Hereditary Pancreatitis Study Group","volume":"84","author":"Lowenfels","year":"2000","journal-title":"Med. Clin. N. Am."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1111\/j.1572-0241.2007.01597.x","article-title":"Risk of Pancreatic Adenocarcinoma in Patients with Hereditary Pancreatitis: A National Exhaustive Series","volume":"103","author":"Rebours","year":"2008","journal-title":"Am. J. Gastroenterol."},{"key":"ref_53","unstructured":"(2025, September 02). Oxford Centre for Evidence-Based Medicine: Levels of Evidence (March 2009). Available online: https:\/\/www.cebm.ox.ac.uk\/resources\/levels-of-evidence\/oxford-centre-for-evidence-based-medicine-levels-of-evidence-march-2009."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1016\/S0889-8553(21)00399-X","article-title":"Hereditary Nonpolyposis Colorectal Cancer\u2014Lynch Syndromes I and II","volume":"17","author":"Lynch","year":"1988","journal-title":"Gastroenterol. Clin. N. Am."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1016\/0016-5085(91)90026-H","article-title":"Pancreatic Lesions in the von Hippel-Lindau Syndrome","volume":"101","author":"Neumann","year":"1991","journal-title":"Gastroenterology"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1007\/BF02049703","article-title":"Variable Gastrointestinal and Urologic Cancers in a Lynch Syndrome II Kindred","volume":"34","author":"Lynch","year":"1991","journal-title":"Dis. Colon Rectum"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1148\/rg.2018170075","article-title":"Lynch Syndrome: Genomics Update and Imaging Review","volume":"38","author":"Cox","year":"2018","journal-title":"Radiographics"},{"key":"ref_58","unstructured":"(2025, April 04). PLSD. Available online: https:\/\/plsd.eu\/."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"1960","DOI":"10.1002\/cncr.28662","article-title":"BRCA1andBRCA2germline Mutations Are Frequently Demonstrated in Both High-Risk Pancreatic Cancer Screening and Pancreatic Cancer Cohorts: BRCA1\/2Germline Mutations in Pancreatic Cancer","volume":"120","author":"Lucas","year":"2014","journal-title":"Cancer"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1136\/jmg.31.8.618","article-title":"Neoplastic Diseases in Families of Breast Cancer Patients","volume":"31","author":"Tulinius","year":"1994","journal-title":"J. Med. Genet."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/j.bpg.2009.02.001","article-title":"Hereditary Pancreatic Cancer: A Clinical Perspective","volume":"23","author":"Greer","year":"2009","journal-title":"Best Pract. Res. Clin. Gastroenterol."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1081\/CNV-100000076","article-title":"The Role of Genetic Factors in the Etiology of Pancreatic Adenocarcinoma: An Update","volume":"19","author":"Chappuis","year":"2001","journal-title":"Cancer Invest."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1016\/S0025-7125(05)70253-4","article-title":"Cancer Surveillance of Patients from Familial Pancreatic Cancer Kindreds","volume":"84","author":"Brentnall","year":"2000","journal-title":"Med. Clin. N. Am."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"101521","DOI":"10.1016\/j.gore.2024.101521","article-title":"Malignant STK11 Adnexal Tumor Harboring a Somatic Mutation in a Woman Previously Diagnosed with Mesothelioma, a Case Report","volume":"56","author":"Rutherford","year":"2024","journal-title":"Gynecol. Oncol. Rep."},{"key":"ref_65","unstructured":"Schneider, K., Zelley, K., Nichols, K.E., Schwartz Levine, A., and Garber, J. (1993). Li-Fraumeni Syndrome. GeneReviews(\u00ae), University of Washington, Seattle."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"1382","DOI":"10.5858\/arpa.2018-0570-RA","article-title":"Familial Adenomatous Polyposis Syndrome: An Update and Review of Extraintestinal Manifestations","volume":"143","author":"Dinarvand","year":"2019","journal-title":"Arch. Pathol. Lab. Med."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1002\/ajmg.1320060305","article-title":"Gardner Syndrome and Periampullary Malignancy","volume":"6","author":"Pauli","year":"1980","journal-title":"Am. J. Med. Genet."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/0002-9610(86)90147-9","article-title":"Unfamiliar Aspects of Familial Polyposis Coli","volume":"152","author":"Stevenson","year":"1986","journal-title":"Am. J. Surg."},{"key":"ref_69","doi-asserted-by":"crossref","unstructured":"Danesino, C., Biglioli, F., Moneghini, L., Valli, R., Olivieri, C., Testa, B., Baldo, C., Malacarne, M., and Guala, A. (2024). Pleomorphic Parotid Adenoma in a Child Affected with Cri Du Chat Syndrome: Clinical, Cytogenetic, and Molecular Analysis. Int. J. Mol. Sci., 25.","DOI":"10.3390\/ijms251910664"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1148\/rg.281075052","article-title":"Imaging Features of von Hippel-Lindau Disease","volume":"28","author":"Leung","year":"2008","journal-title":"Radiographics"},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"2655","DOI":"10.1111\/j.1572-0241.2006.00737.x","article-title":"Pancreatic Involvement in von Hippel-Lindau Disease: Report of Two Cases and Review of the Literature","volume":"101","author":"Elli","year":"2006","journal-title":"Am. J. Gastroenterol."},{"key":"ref_72","first-page":"1","article-title":"Spectrum of Magnetic Resonance Imaging Findings in Pancreatic and Other Abdominal Manifestations of Von Hippel-Lindau Disease in a Series of 23 Patients: A Pictorial Review","volume":"15","author":"Graziani","year":"2014","journal-title":"JOP"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1159\/000210262","article-title":"Screening of High-Risk Families for Pancreatic Cancer","volume":"9","author":"Greenhalf","year":"2009","journal-title":"Pancreatology"},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"1076\u20131080, 1080.e1-2","DOI":"10.1053\/j.gastro.2010.08.012","article-title":"Hereditary Pancreatic Cancer","volume":"139","author":"Grover","year":"2010","journal-title":"Gastroenterology"},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1159\/000201553","article-title":"Identification of a Novel Kindred with Familial Pancreatitis and Pancreatic Cancer","volume":"9","author":"LaFemina","year":"2009","journal-title":"Pancreatology"},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1159\/000050656","article-title":"Prevention of Pancreatic Cancer and Strategies for Management of Familial Pancreatic Cancer","volume":"19","author":"Hruban","year":"2001","journal-title":"Dig. Dis."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1159\/000055849","article-title":"Hereditary Pancreatic Cancer","volume":"1","author":"Lynch","year":"2001","journal-title":"Pancreatology"},{"key":"ref_78","first-page":"209","article-title":"Family History and the Risk of Liver, Gallbladder, and Pancreatic Cancer","volume":"3","author":"Vecchia","year":"1994","journal-title":"Cancer Epidemiol. Biomarkers Prev."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1093\/jnci\/93.8.640","article-title":"Familial Risk of Pancreatic Cancer","volume":"93","author":"Schenk","year":"2001","journal-title":"J. Natl. Cancer Inst."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"2696","DOI":"10.1111\/j.1572-0241.2007.01510.x","article-title":"Risk Factors for Pancreatic Cancer: Case-Control Study","volume":"102","author":"Hassan","year":"2007","journal-title":"Am. J. Gastroenterol."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"365","DOI":"10.5858\/133.3.365","article-title":"Familial Pancreatic Cancer","volume":"133","author":"Shi","year":"2009","journal-title":"Arch. Pathol. Lab. Med."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/j.soc.2008.09.001","article-title":"The Recognition and Surgical Management of Heritable Lesions of the Pancreas","volume":"18","author":"Kim","year":"2009","journal-title":"Surg. Oncol. Clin. N. Am."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"1421","DOI":"10.1002\/ijc.25148","article-title":"Family History of Cancer and Risk of Pancreatic Cancer: A Pooled Analysis from the Pancreatic Cancer Cohort Consortium (PanScan)","volume":"127","author":"Jacobs","year":"2010","journal-title":"Int. J. Cancer"},{"key":"ref_84","unstructured":"Eckerle Mize, D., Bishop, M., Resse, E., and Sluzevich, J. (2009). Familial Atypical Multiple Mole Melanoma Syndrome, Cancer Syndromes."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/j.yasu.2010.05.011","article-title":"Update on Familial Pancreatic Cancer","volume":"44","author":"Hruban","year":"2010","journal-title":"Adv. Surg."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"1082","DOI":"10.1148\/rg.2021200164","article-title":"Pancreas in Hereditary Syndromes: Cross-Sectional Imaging Spectrum","volume":"41","author":"Katabathina","year":"2021","journal-title":"Radiographics"},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"761","DOI":"10.5009\/gnl16414","article-title":"Familial Pancreatic Cancer and the Future of Directed Screening","volume":"11","author":"Welinsky","year":"2017","journal-title":"Gut Liver"},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"1167","DOI":"10.1007\/s12282-020-01148-2","article-title":"Hereditary Breast and Ovarian Cancer (HBOC): Review of Its Molecular Characteristics, Screening, Treatment, and Prognosis","volume":"28","author":"Yoshida","year":"2021","journal-title":"Breast Cancer"},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"1223","DOI":"10.1016\/j.suc.2016.07.016","article-title":"Screening for Pancreatic Cancer","volume":"96","author":"Ngamruengphong","year":"2016","journal-title":"Surg. Clin. N. Am."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"743","DOI":"10.2147\/CMAR.S172421","article-title":"Familial Pancreatic Cancer: Current Perspectives","volume":"12","author":"Llach","year":"2020","journal-title":"Cancer Manag. Res."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"1394","DOI":"10.1136\/gut.34.10.1394","article-title":"Increased Risk of Thyroid and Pancreatic Carcinoma in Familial Adenomatous Polyposis","volume":"34","author":"Giardiello","year":"1993","journal-title":"Gut"},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1136\/gutjnl-2012-303108","article-title":"International Cancer of the Pancreas Screening (CAPS) Consortium Summit on the Management of Patients with Increased Risk for Familial Pancreatic Cancer","volume":"62","author":"Canto","year":"2013","journal-title":"Gut"},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1016\/j.annonc.2023.08.009","article-title":"Pancreatic Cancer: ESMO Clinical Practice Guideline for Diagnosis, Treatment and Follow-Up","volume":"34","author":"Conroy","year":"2023","journal-title":"Ann. 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