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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Memorial Sloan Kettering Cancer Center
New York, United States
Media Working Group
Portland, United States
Fondazione IRCCS Istituto Nazionale dei Tumori
Milan, Italy
Cleveland Clinic
Cleveland, United States
The University of Texas MD Anderson Cancer Center
Houston, United States
Radboud University Nijmegen
Nijmegen, The Netherlands
The University of Melbourne
Melbourne, Australia
The Netherlands Cancer Institute
Amsterdam, The Netherlands
University of Florida
Gainesville, United States
Heidelberg University
Heidelberg, Germany
References
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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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Highly aggressive thoracic desmoid tumors in adolescent siblings with fatal outcomes in an FAP kindred: a need for increased vigilance and intervention in at-risk AYAs.
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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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A distinct APC pathogenic germline variant identified in a southern Thai family with familial adenomatous polyposis.
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Mutational screening through comprehensive bioinformatics analysis to detect novel germline mutations in the APC gene in patients with familial adenomatous polyposis (FAP).
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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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Asian journal of surgery 2022; (45(1)):396-400 doi:10.1016/j.asjsur.2021.06.034.
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Abdominal Desmoid: Course, Severe Outcomes, and Unique Genetic Background in a Large Local Series.
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Cancers 2021; (13(15)) doi:10.3390/cancers13153673.
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Systemic considerations with pigmented fundus lesions and retinal pigment epithelium hamartomas in Turcot syndrome.
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Endoscopic management of duodenal adenomatosis in familial adenomatous polyposis-A case-based review.
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United European gastroenterology journal 2021; (9(4)):461-468 doi:10.1002/ueg2.12071.
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Trends in diagnostic and therapeutic strategies for extra-abdominal desmoid-type fibromatosis: Japanese musculoskeletal oncology group questionnaire survey.
Murase F, Nishida Y, Hamada S, et al.
Japanese journal of clinical oncology 2021; (51(11)):1615-1621 doi:10.1093/jjco/hyab146.
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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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Genetic Syndromes Associated with Gastric Cancer.
Kim W, Kidambi T, Lin J, Idos G
Gastrointestinal endoscopy clinics of North America 2022; (32(1)):147-162 doi:10.1016/j.giec.2021.08.004.
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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.
PMID: 35191403 - 57
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.
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Thyroid Nodules in Children With Familial Adenomatous Polyposis.
Smith JR, Kamihara J, Church AJ, et al.
The American journal of gastroenterology 2022; (117(7)):1166-1168 doi:10.14309/ajg.0000000000001747.
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Long-term prognosis of familial adenomatous polyposis with or without mucosectomy.
Tatsuta K, Sakata M, Morita Y, et al.
International journal of colorectal disease 2022; (37(5)):1133-1140 doi:10.1007/s00384-022-04154-2.
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Orbital osteomas associated with Gardner's syndrome: a case presentation and review of literature.
Avila SA, Nguyen G, Wojno T, Kim HJ
Orbit (Amsterdam, Netherlands) 2024; (43(1)):109-114 doi:10.1080/01676830.2022.2080231.
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OTX1 promotes tumorigenesis and progression of cervical cancer by regulating the Wnt signaling pathway.
Zhou L, Li H, Zhang D, et al.
Oncology reports 2022; (48(5)).
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Dysplasia at the Anal Transition Zone after IPAA.
Church J
Clinics in colon and rectal surgery 2022; (35(6)):495-498 doi:10.1055/s-0042-1758228.
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Nirogacestat, a γ-Secretase Inhibitor for Desmoid Tumors.
Gounder M, Ratan R, Alcindor T, et al.
The New England journal of medicine 2023; (388(10)):898-912 doi:10.1056/NEJMoa2210140.
PMID: 36884323 - 64
NIRO or No-go? Positioning a Novel Systemic Treatment Option for Desmoid Tumours.
Loong HH, Gupta A, Gronchi A
Annals of surgical oncology 2023; (30(5)):2570-2573 doi:10.1245/s10434-022-12924-z.
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Cribriform morular thyroid carcinoma: a recently reclassified entity.
Chang HY, Lim MY, Bundele MM
ANZ journal of surgery 2023; (93(9)):2257-2259 doi:10.1111/ans.18451.
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Nirogacestat and its potential impact on desmoid tumor.
Rohail S, Fareed A, Taimuri MA, Adnan A
Rare tumors 2023; (15()):20363613231182485 doi:10.1177/20363613231182485.
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Extracolonic manifestations of Gardner syndrome: A case report.
Blackwell MC, Thakkar B, Flores A, Zhang W
Imaging science in dentistry 2023; (53(2)):169-174 doi:10.5624/isd.20230006.
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A novel APC mutation associated with Gardner syndrome in a Chinese family.
Zeng M, Yao X, Pan Y, et al.
Gene 2024; (896()):148051 doi:10.1016/j.gene.2023.148051.
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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.
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The Spigelman Staging System and the Risk of Duodenal and Papillary Cancer in Familial Adenomatous Polyposis: A Systematic Review and Meta-Analysis.
Mannucci A, Puzzono M, Goel A, et al.
The American journal of gastroenterology 2024; (119(4)):617-624 doi:10.14309/ajg.0000000000002688.
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Stapled Anastomosis Versus Hand-Sewn Anastomosis With Mucosectomy for Ileal Pouch-Anal Anastomosis: A Systematic Review and Meta-analysis of Postoperative Outcomes, Functional Outcomes, and Oncological Safety.
Chaouch MA, Hussain MI, Gouader A, et al.
Cancer control : journal of the Moffitt Cancer Center 2024; (31()):10732748241236338 doi:10.1177/10732748241236338.
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Aberrant β-Catenin Expression and Its Association With Epithelial-Mesenchymal Transition and Clinical Outcomes of Colorectal Cancer.
Hussein ZH, Hassawi BA, Ibraheem Q
Cureus 2024; (16(1)):e53104 doi:10.7759/cureus.53104.
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Long-term prognosis after stapled and hand-sewn ileal pouch-anal anastomoses for familial adenomatous polyposis: a multicenter retrospective study.
Tatsuta K, Sakata M, Iwaizumi M, et al.
International journal of colorectal disease 2024; (39(1)):32 doi:10.1007/s00384-024-04608-9.
PMID: 38431759 - 74
Outcomes following duodenectomy in patients with familial adenomatous polyposis.
Aelvoet AS, Martin I, Cockburn J, et al.
Endoscopy international open 2024; (12(5)):E659-E665 doi:10.1055/a-2298-0038.
PMID: 38707599 - 75
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 - 76
Paraspinal Desmoid Tumor in a Pediatric Patient with No Surgical History: A Case Report.
Patel A, Varga G, Mallela AN, et al.
Asian journal of neurosurgery 2024; (19(1)):87-93 doi:10.1055/s-0043-1771366.
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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.
PMID: 38785081 - 78
Case report: Rapidly progressive desmoid tumor after surgery for esophagogastric junction cancer and slowly progressive primary desmoid tumor: a report of two cases and literature review.
Li CY, Gao YP, Jia MH, et al.
Frontiers in oncology 2024; (14()):1401839 doi:10.3389/fonc.2024.1401839.
PMID: 38800396 - 79
Case report: Initial atypical skeletal symptoms and dental anomalies as first signs of Gardner syndrome: the importance of genetic analysis in the early diagnosis.
Antal G, Zsigmond A, Till Á, et al.
Pathology oncology research : POR 2024; (30()):1611768 doi:10.3389/pore.2024.1611768.
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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.
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Current Management of Desmoid Tumors: A Review.
Kasper B, Baldini EH, Bonvalot S, et al.
JAMA oncology 2024; (10(8)):1121-1128 doi:10.1001/jamaoncol.2024.1805.
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Endoscopic Surveillance after (Procto)Colectomy with Gastrointestinal Reconstruction in Patients with Familial Adenomatous Polyposis (FAP)-Principles, Goals and Practical Aspects Based on 12 Years of Observation.
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Life (Basel, Switzerland) 2024; (14(8)) doi:10.3390/life14081000.
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Examining nirogacestat for adults with progressing desmoid tumors who require systemic treatment.
Campos F, Kasper B
Expert opinion on pharmacotherapy 2024; (25(16)):2115-2124 doi:10.1080/14656566.2024.2418416.
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Desmoid tumors: Old and new drugs for a rare and challenging disease.
Kasper B
Cancer 2025; (131(1)):e35603 doi:10.1002/cncr.35603.
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Use of congenital hypertrophy of the retinal pigment epithelium as a clinical sign of familial adenomatous polyposis.
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Arquivos brasileiros de oftalmologia 2024; (88(3)) doi:10.5935/0004-2749.2023-0115.
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The challenge of preventing gastric cancer in patients under surveillance for familial adenomatous polyposis.
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Familial cancer 2025; (24(1)):14 doi:10.1007/s10689-024-00438-4.
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Thirty-year compliance with a surveillance program for patients with familial adenomatous polyposis.
Cleret de Langavant B, Lefèvre JH, Metras J, et al.
Familial cancer 2025; (24(1)):19 doi:10.1007/s10689-025-00441-3.
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Gardner syndrome: When cervical-facial osteomas reveal the tip of the iceberg: A case report and literature review.
Andour H, Mamouch A, Hassar S, et al.
Radiology case reports 2025; (20(4)):1967-1971 doi:10.1016/j.radcr.2024.12.043.
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Clinical Challenges and Evolving Treatments in Desmoid Fibromatosis: A Single Institution Experience.
Yu A, Butler Z, Honore L, et al.
Cancer investigation 2025; (43(4)):257-266 doi:10.1080/07357907.2025.2493240.
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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.
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