Research & Literature
Explore the leading researchers and institutions driving advances in this area, and dive into the full body of literature that informs this resource.
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Cleveland Clinic
Cleveland, United States
Memorial Sloan Kettering Cancer Center
New York, United States
Radboud University Nijmegen
Nijmegen, The Netherlands
University of Bonn
Bonn, Germany
The University of Texas MD Anderson Cancer Center
Houston, United States
St Mark's Hospital
London, United Kingdom
Fondazione IRCCS Istituto Nazionale dei Tumori
Milan, Italy
Media Working Group
Portland, United States
Amsterdam University Medical Centers
Amsterdam, The Netherlands
Myriad Genetics
Salt Lake City, United States
References
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The two SAMP repeats and their phosphorylation state in Drosophila Adenomatous polyposis coli-2 play mechanistically distinct roles in negatively regulating Wnt signaling.
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The impact of chromoendoscopy for surveillance of the duodenum in patients with MUTYH-associated polyposis and familial adenomatous polyposis.
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Aggressive mutation in a familial adenomatous polyposis syndrome family: when phenotype guides clinical surveillance.
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Spigelman stage IV duodenal polyposis does not precede most duodenal cancer cases in patients with familial adenomatous polyposis.
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Annals of translational medicine 2018; (6(13)):267 doi:10.21037/atm.2018.04.34.
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A novel large germ line deletion in adenomatous polyposis coli (APC) gene associated with familial adenomatous polyposis.
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Molecular genetics & genomic medicine 2018; (6(6)):1031-1040 doi:10.1002/mgg3.479.
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A Decision Analysis for Rectal-Sparing Familial Adenomatous Polyposis: Total Colectomy With Ileorectal Anastomosis Versus Proctocolectomy With IPAA.
Melnitchouk N, Saadat LV, Bleday R, Goldberg JE
Diseases of the colon and rectum 2019; (62(1)):27-32 doi:10.1097/DCR.0000000000001186.
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Targeted next-generation sequencing approach for molecular genetic diagnosis of hereditary colorectal cancer: Identification of a novel single nucleotide germline insertion in adenomatous polyposis coli gene causes familial adenomatous polyposis.
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Appropriate Management of Attenuated Familial Adenomatous Polyposis: Report of a Case and Review of the Literature.
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Digestive diseases (Basel, Switzerland) 2019; (37(5)):400-405 doi:10.1159/000497207.
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Long-term outcomes of metachronous neoplasms in the ileal pouch and rectum after surgical treatment in patients with familial adenomatous polyposis.
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Efficacy of Full-Spectrum Endoscopy to Visualize the Major Duodenal Papilla in Patients with Familial Adenomatous Polyposis.
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Timing of prophylactic colectomy in familial adenomatous polyposis.
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Risks, Benefits, and Effects on Management for Biopsy of the Papilla in Patients With Familial Adenomatous Polyposis.
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Pancreas- and Pylorus-Preserving Duodenectomy for Advanced Familial Duodenal Polyposis.
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Endoscopic Surveillance of Duodenal Polyposis After Total Gastrectomy in Familial Adenomatous Polyposis.
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Eflornithine plus Sulindac for Prevention of Progression in Familial Adenomatous Polyposis.
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Familial adenomatous polyposis: a case study.
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Synthetic lethality between MyD88 loss and mutations in Wnt/β-catenin pathway in intestinal tumor epithelial cells.
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Endoscopic management of ampullary tumors: European Society of Gastrointestinal Endoscopy (ESGE) Guideline.
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Chemoprevention with low-dose aspirin, mesalazine, or both in patients with familial adenomatous polyposis without previous colectomy (J-FAPP Study IV): a multicentre, double-blind, randomised, two-by-two factorial design trial.
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Desmoid-type fibromatosis: toward a holistic management.
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Medical treatment of pouchitis: a guide for the clinician.
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Combination of Sulindac and Eflornithine Delays the Need for Lower Gastrointestinal Surgery in Patients With Familial Adenomatous Polyposis: Post Hoc Analysis of a Randomized Clinical Trial.
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Risk of extracolonic malignancies and metachronous rectal cancer after colectomy and ileorectal anastomosis in familial adenomatous polyposis.
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Endoscopic management of duodenal adenomatosis in familial adenomatous polyposis-A case-based review.
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Incidental Finding of Attenuated Familial Adenomatous Polyposis.
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Treatment of pouchitis, Crohn's disease, cuffitis, and other inflammatory disorders of the pouch: consensus guidelines from the International Ileal Pouch Consortium.
Shen B, Kochhar GS, Rubin DT, et al.
The lancet. Gastroenterology & hepatology 2022; (7(1)):69-95 doi:10.1016/S2468-1253(21)00214-4.
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Attenuated Familial Adenomatous Polyposis: A Phenotypic Diagnosis but Obsolete Term?
Anele CC, Martin I, McGinty Duggan PM, et al.
Diseases of the colon and rectum 2022; (65(4)):529-535 doi:10.1097/DCR.0000000000002217.
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Endoscopic Management and Surgical Considerations for Familial Adenomatous Polyposis.
Stanich PP, Sullivan B, Kim AC, Kalady MF
Gastrointestinal endoscopy clinics of North America 2022; (32(1)):113-130 doi:10.1016/j.giec.2021.08.007.
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Germline mutations of the adenomatous polyposis coli (APC) gene in Algerian familial adenomatous polyposis cohort: first report.
Khider F, Cherbal F, Boumehdi AL, et al.
Molecular biology reports 2022; (49(5)):3823-3837 doi:10.1007/s11033-022-07228-0.
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Incidence and Risk Factors of Cancer in the Anal Transitional Zone and Ileal Pouch following Surgery for Ulcerative Colitis and Familial Adenomatous Polyposis.
Le Cosquer G, Buscail E, Gilletta C, et al.
Cancers 2022; (14(3)) doi:10.3390/cancers14030530.
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Study of diagnostic value of congenital hypertrophy of retinal pigment epithelium in Chinese familial adenomatous polyposis patients.
Cai S, Yu Y, Xie X, et al.
European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) 2022; (31(5)):422-429 doi:10.1097/CEJ.0000000000000725.
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Recent trends in the morbidity and mortality in patients with familial adenomatous polyposis: a retrospective single institutional study in Japan.
Mori Y, Amano K, Chikatani K, et al.
International journal of clinical oncology 2022; (27(6)):1034-1042 doi:10.1007/s10147-022-02146-4.
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The Genetic Management Clinic: Oncology Nurses and Management of Hereditary Cancer Risk.
Hoopes S, Simmons V, Perkins L
Clinical journal of oncology nursing 2022; (26(2)):147-150 doi:10.1188/22.CJON.147-150.
PMID: 35302548 - 50
Congenital Hypertrophy of the Retinal Pigment Epithelium (CHRPE) as a Screening Marker for Familial Adenomatous Polyposis (FAP): Systematic Literature Review and Screening Recommendations.
Bonnet LA, Conway RM, Lim LA
Clinical ophthalmology (Auckland, N.Z.) 2022; (16()):765-774 doi:10.2147/OPTH.S354761.
PMID: 35321042 - 51
"I have always lived with the disease in the family": family adaptation to hereditary cancer-risk.
Silva E, Gomes P, Matos PM, et al.
BMC primary care 2022; (23(1)):93 doi:10.1186/s12875-022-01704-z.
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Endoscopic management of familial adenomatous polyposis targeting colorectal lesions greater than 5 mm in size: a single-center retrospective study.
Murano T, Ikematsu H, Shinmura K, et al.
Familial cancer 2023; (22(1)):83-89 doi:10.1007/s10689-022-00308-x.
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Endoscopic Findings and Treatment of Gastric Neoplasms in Familial Adenomatous Polyposis.
Sato C, Takahashi K, Sato H, et al.
Journal of gastric cancer 2022; (22(4)):381-394 doi:10.5230/jgc.2022.22.e30.
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A Case of Sporadic Multiple Colonic Polyps in a Young Woman.
Sin SH, Yoon JH, Kim SW, et al.
Current oncology (Toronto, Ont.) 2023; (30(2)):1293-1299 doi:10.3390/curroncol30020100.
PMID: 36826061 - 55
Laparoscopic Restorative Total Proctocolectomy with Ileal Pouch-Anal Anastomosis for Familial Adenomatous Polyposis and Ulcerative Colitis.
Keleidari B, Mahmoudieh M, Shiasi M
Advanced biomedical research 2023; (12()):85 doi:10.4103/abr.abr_249_21.
PMID: 37288020 - 56
T cell migration and effector function differences in familial adenomatous polyposis patients with APC gene mutations.
Cuche C, Mastrogiovanni M, Juzans M, et al.
Frontiers in immunology 2023; (14()):1163466 doi:10.3389/fimmu.2023.1163466.
PMID: 37533857 - 57
Progression of duodenal neoplasia to advanced adenoma in patients with familial adenomatous polyposis.
Nakahira H, Takeuchi Y, Shimamoto Y, et al.
Hereditary cancer in clinical practice 2023; (21(1)):25 doi:10.1186/s13053-023-00264-2.
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Risk of Proctectomy After Ileorectal Anastomosis in Familial Adenomatous Polyposis in the Modern Era.
Banerjee S, Burke CA, Sommovilla J, et al.
Diseases of the colon and rectum 2024; (67(3)):427-434 doi:10.1097/DCR.0000000000003157.
PMID: 38064246 - 59
Histopathological Evaluation of Pouch Neoplasia in IBD and Familial Adenomatous Polyposis.
Ko HM
Diseases of the colon and rectum 2024; (67(S1)):S91-S98 doi:10.1097/DCR.0000000000003320.
PMID: 38422398 - 60
Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision.
Zaffaroni G, Mannucci A, Koskenvuo L, et al.
The British journal of surgery 2024; (111(5)) doi:10.1093/bjs/znae070.
PMID: 38722804 - 61
Current management of familial adenomatous polyposis.
Lauricella S, Rausa E, Pellegrini I, et al.
Expert review of anticancer therapy 2024; (24(6)):363-377 doi:10.1080/14737140.2024.2344649.
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Endoscopic management of patients with familial adenomatous polyposis after prophylactic colectomy or restorative proctocolectomy - systematic review of the literature.
Gavric A, Sanchez LR, Brunori A, et al.
Radiology and oncology 2024; (58(2)):153-169 doi:10.2478/raon-2024-0029.
PMID: 38860690 - 63
Endoscopic scoring indices for assessing disease severity in familial adenomatous polyposis: Systematic review.
Silverman AL, Bouchiba H, Aelvoet A, et al.
Endoscopy international open 2024; (12(6)):E799-E809 doi:10.1055/a-2330-8037.
PMID: 38904059 - 64
Development of Desmoid Tumors After Ileorectal Anastomosis Versus Ileal Pouch-Anal Anastomosis in Familial Adenomatous Polyposis.
Aelvoet AS, Pellisé M, Miedema TN, et al.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2024; (22(11)):2319-2326 doi:10.1016/j.cgh.2024.06.018.
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Familial adenomatous polyposis: a case report.
Kindie EA, Beyera TD, Teferi ET, et al.
Journal of medical case reports 2024; (18(1)):415 doi:10.1186/s13256-024-04724-8.
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Use of congenital hypertrophy of the retinal pigment epithelium as a clinical sign of familial adenomatous polyposis.
Carvalho AA, Crespo TS, Násser LS, et al.
Arquivos brasileiros de oftalmologia 2024; (88(3)) doi:10.5935/0004-2749.2023-0115.
PMID: 39607153 - 67
Adenomatous Polyposis Coli Gene Mutations, Risk Factors, and Long-term Outcomes Associated With Desmoid Tumors in Patients With Familial Adenomatous Polyposis After Colectomy in Japan.
Kojima T, Kurachi K, Iwaizumi M, et al.
Journal of clinical gastroenterology 2025; (59(7)):583-591 doi:10.1097/MCG.0000000000002071.
PMID: 39729982 - 68
Cancer Incidence and Mortality in Familial Adenomatous Polyposis Syndrome.
Feldman D, Rodgers-Fouche LH, Ukaegbu C, et al.
Diseases of the colon and rectum 2025; (68(5)):531-543 doi:10.1097/DCR.0000000000003645.
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Worldwide Impact of Upper Gastrointestinal Disease in Familial Adenomatous Polyposis.
Haider M, Masood M, Katona BW, et al.
Diagnostics (Basel, Switzerland) 2025; (15(10)) doi:10.3390/diagnostics15101218.
PMID: 40428212 - 70
Evaluating Management of Extra-Abdominal Desmoid Fibromatosis: A Retrospective Analysis of Treatments, Outcomes and Recurrence Patterns.
Saraf V, Triplicane Dwarakanathan H, Al-Abri AM, et al.
Current oncology (Toronto, Ont.) 2025; (32(6)) doi:10.3390/curroncol32060320.
PMID: 40558263 - 71
Optimizing risk-reducing surgery and aspirin decision aids for Lynch syndrome carriers using the person-based approach: A think-aloud interview study.
Kohut K, Morton K, Turner L, et al.
Journal of genetic counseling 2025; (34(4)):e70089 doi:10.1002/jgc4.70089.
PMID: 40772451 - 72
Desmoid fibromatosis of the cruris: A rare case report.
Andrianti NS, Fitrah A, Aviyani , Hernawa BS
Radiology case reports 2026; (21(1)):181-185 doi:10.1016/j.radcr.2025.09.039.
PMID: 41142857 - 73
Single-stage laparoscopic proctocolectomy with ileal pouch-anal anastomosis for familial adenomatous polyposis.
Mudreac A, Kim SE, Kennedy K, et al.
Pediatric surgery international 2025; (42(1)):13 doi:10.1007/s00383-025-06244-y.
PMID: 41240130 - 74
Pouch excision, dysplasia and polypectomy in familial adenomatous polyposis ileal pouch anal anastomosis: a retrospective analysis.
Blake I, Aslam H, Ahmed S, et al.
BMJ open gastroenterology 2025; (12(1)) doi:10.1136/bmjgast-2025-001758.
PMID: 41365653 - 75
Clinicopathological and molecular mechanisms of cribriform morular thyroid carcinoma: a case report and a literature review.
Zhang X, Lv Y, Yan W, et al.
Annals of medicine and surgery (2012) 2025; (87(12)):8944-8948 doi:10.1097/MS9.0000000000004082.
PMID: 41377377 - 76
Two cases of genetic testing for familial adenomatous polyposis without a family history.
Makutani Y, Iwamoto M, Daito K, et al.
International cancer conference journal 2025; (14(4)):387-395 doi:10.1007/s13691-025-00782-x.
PMID: 41395568 - 77
Review of Familial Adenomatous Polyposis: Current Understanding and Clinical Management.
Hendren JR, Dabaghi E, Sommovilla J, Liska D
JCO oncology practice 2026; OP2500553 doi:10.1200/OP-25-00553.
PMID: 41494143 - 78
Retinal Pigment Epithelial Hamartomas in Familial Adenomatous Polyposis: New Insights Based on Multimodal Imaging of 233 Lesions.
Kong CF, Go C, Wu SO, et al.
Ophthalmology. Retina 2026; doi:10.1016/j.oret.2026.01.012.
PMID: 41616853