Research & Literature

Colorectal cancer: APC restores order.

Seton-Rogers S

Nature reviews. Cancer 2015; (15(8)):454 doi:10.1038/nrc3986.

Desmoid tumors complicating Familial Adenomatous Polyposis: a meta-analysis mutation spectrum of affected individuals.

Slowik V, Attard T, Dai H, et al.

BMC gastroenterology 2015; (15()):84 doi:10.1186/s12876-015-0306-2.

Long-term outcome of sporadic and FAP-associated desmoid tumors treated with high-dose selective estrogen receptor modulators and sulindac: a single-center long-term observational study in 134 patients.

Quast DR, Schneider R, Burdzik E, et al.

Familial cancer 2016; (15(1)):31-40 doi:10.1007/s10689-015-9830-z.

Desmoid tumor patients carry an elevated risk of familial adenomatous polyposis.

Koskenvuo L, Peltomäki P, Renkonen-Sinisalo L, et al.

Journal of surgical oncology 2016; (113(2)):209-12 doi:10.1002/jso.24117.

Frequency and Features of Duodenal Adenomas in Patients With MUTYH-Associated Polyposis.

Walton SJ, Kallenberg FG, Clark SK, et al.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2016; (14(7)):986-92.

Pouchitis Is a Common Complication in Patients With Familial Adenomatous Polyposis Following Ileal Pouch-Anal Anastomosis.

Quinn KP, Lightner AL, Pendegraft RS, et al.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2016; (14(9)):1296-301.

Familial Adenomatous Polyposis.

Waller A, Findeis S, Lee MJ

Journal of pediatric genetics 2016; (5(2)):78-83 doi:10.1055/s-0036-1579760.

Age- and Gender-Specific Risk of Thyroid Cancer in Patients With Familial Adenomatous Polyposis.

Uchino S, Ishikawa H, Miyauchi A, et al.

The Journal of clinical endocrinology and metabolism 2016; (101(12)):4611-4617 doi:10.1210/jc.2016-2043.

Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study.

Ricci MT, Miccoli S, Turchetti D, et al.

Journal of human genetics 2017; (62(2)):309-315 doi:10.1038/jhg.2016.132.

The genetic basis of colonic adenomatous polyposis syndromes.

Talseth-Palmer BA

Hereditary cancer in clinical practice 2017; (15()):5 doi:10.1186/s13053-017-0065-x.

Risk of Rectal Neoplasia after Colectomy and Ileorectal Anastomosis for Ulcerative Colitis.

Uzzan M, Kirchgesner J, Oubaya N, et al.

Journal of Crohn's & colitis 2017; (11(8)):930-935 doi:10.1093/ecco-jcc/jjx027.

Attenuated adenomatous polyposis of the large bowel: Present and future.

Roncucci L, Pedroni M, Mariani F

World journal of gastroenterology 2017; (23(23)):4135-4139 doi:10.3748/wjg.v23.i23.4135.

NTHL1 and MUTYH polyposis syndromes: two sides of the same coin?

Weren RD, Ligtenberg MJ, Geurts van Kessel A, et al.

The Journal of pathology 2018; (244(2)):135-142 doi:10.1002/path.5002.

Congenital Hypertrophy of Retinal Pigment Epithelium for Diagnosis of Familial Adenomatous Polyposis - the First FAP registry in Iran

Mirinezhad SK, Mousavi F, Baghri M, et al.

Asian Pacific journal of cancer prevention : APJCP 2018; (19(1)):167-169 doi:10.22034/APJCP.2018.19.1.167.

Cribriform-Morular Variant of Papillary Thyroid Carcinoma: Clinical and Pathological Features of 30 Cases.

Akaishi J, Kondo T, Sugino K, et al.

World journal of surgery 2018; (42(11)):3616-3623 doi:10.1007/s00268-018-4644-4.

The impact of chromoendoscopy for surveillance of the duodenum in patients with MUTYH-associated polyposis and familial adenomatous polyposis.

Hurley JJ, Thomas LE, Walton SJ, et al.

Gastrointestinal endoscopy 2018; (88(4)):665-673 doi:10.1016/j.gie.2018.04.2347.

Hepatoblastoma in patients with molecularly proven familial adenomatous polyposis: Clinical characteristics and rationale for surveillance screening.

Trobaugh-Lotrario AD, López-Terrada D, Li P, Feusner JH

Pediatric blood & cancer 2018; (65(8)):e27103 doi:10.1002/pbc.27103.

Variants of Uncertain Significance: Should We Revisit How They Are Evaluated and Disclosed?

Morales A, Hershberger RE

Circulation. Genomic and precision medicine 2018; (11(6)):e002169 doi:10.1161/CIRCGEN.118.002169.

Aggressive mutation in a familial adenomatous polyposis syndrome family: when phenotype guides clinical surveillance.

Neffa F, Garcia L, Della Valle A, et al.

Journal of gastrointestinal oncology 2018; (9(3)):553-559 doi:10.21037/jgo.2017.10.06.

Prevalence of and risk factors for thyroid carcinoma in patients with familial adenomatous polyposis: results of a multicenter study in Japan and a systematic review.

Sada H, Hinoi T, Ueno H, et al.

Surgery today 2019; (49(1)):72-81 doi:10.1007/s00595-018-1710-3.

Life After Surgery: Surgeon Assessments of Quality of Life Among Patients With Familial Adenomatous Polyposis.

Dossa F, Morris AM, Wilson AR, Baxter NN

Diseases of the colon and rectum 2018; (61(10)):1217-1222 doi:10.1097/DCR.0000000000001146.

A neoepitope derived from a novel human germline APC gene mutation in familial adenomatous polyposis shows selective immunogenicity.

Majumder S, Shah R, Elias J, et al.

PloS one 2018; (13(9)):e0203845 doi:10.1371/journal.pone.0203845.

A novel large germ line deletion in adenomatous polyposis coli (APC) gene associated with familial adenomatous polyposis.

Pouya F, Mojtabanezhad Shariatpanahi A, Ghaffarzadegan K, et al.

Molecular genetics & genomic medicine 2018; (6(6)):1031-1040 doi:10.1002/mgg3.479.

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.

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.

Wang D, Liang S, Zhang X, et al.

Molecular genetics & genomic medicine 2019; (7(1)):e00505 doi:10.1002/mgg3.505.

Sorafenib for Advanced and Refractory Desmoid Tumors.

Gounder MM, Mahoney MR, Van Tine BA, et al.

The New England journal of medicine 2018; (379(25)):2417-2428 doi:10.1056/NEJMoa1805052.

Multi-gene panel testing confirms phenotypic variability in MUTYH-Associated Polyposis.

Sutcliffe EG, Bartenbaker Thompson A, Stettner AR, et al.

Familial cancer 2019; (18(2)):203-209 doi:10.1007/s10689-018-00116-2.

Complications Related to J-Pouch Surgery.

Freeha K, Bo S

Gastroenterology & hepatology 2018; (14(10)):571-576.

Balancing uncertainty with patient autonomy in precision medicine.

Pollard S, Sun S, Regier DA

Nature reviews. Genetics 2019; (20(5)):251-252 doi:10.1038/s41576-019-0111-9.

Long-term outcomes of metachronous neoplasms in the ileal pouch and rectum after surgical treatment in patients with familial adenomatous polyposis.

Tajika M, Tanaka T, Ishihara M, et al.

Endoscopy international open 2019; (7(5)):E691-E698 doi:10.1055/a-0849-9465.

Hereditary Cancer Syndromes-A Primer on Diagnosis and Management: Part 1: Breast-Ovarian Cancer Syndromes.

Samadder NJ, Giridhar KV, Baffy N, et al.

Mayo Clinic proceedings 2019; (94(6)):1084-1098 doi:10.1016/j.mayocp.2019.02.017.

Hereditary Cancer Syndromes-A Primer on Diagnosis and Management, Part 2: Gastrointestinal Cancer Syndromes.

Samadder NJ, Baffy N, Giridhar KV, et al.

Mayo Clinic proceedings 2019; (94(6)):1099-1116 doi:10.1016/j.mayocp.2019.01.042.

Ileal-anal pouches: A review of its history, indications, and complications.

Ng KS, Gonsalves SJ, Sagar PM

World journal of gastroenterology 2019; (25(31)):4320-4342 doi:10.3748/wjg.v25.i31.4320.

In patients with a positive family history of familial adenomatous polyposis can the condition be diagnosed from the presence of congenital hypertrophy of the retinal pigment epithelium detected via an eye examination: A systematic review.

Rehan S, Aye K

Clinical & experimental ophthalmology 2020; (48(1)):98-116 doi:10.1111/ceo.13643.

Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy.

Terlouw D, Suerink M, Singh SS, et al.

European journal of human genetics : EJHG 2020; (28(2)):222-230 doi:10.1038/s41431-019-0509-z.

Pathogenic APC Variants in Latvian Familial Adenomatous Polyposis Patients.

Daneberga Z, Berzina D, Borosenko V, et al.

Medicina (Kaunas, Lithuania) 2019; (55(10)) doi:10.3390/medicina55100612.

[Meduloblastoma and recurrent meningioma in association with colonic polyposis: an unusual presentation of Turcot syndrome].

Barreda Costa C, Chu Revollar L, Herrera Alzamora A

Revista de gastroenterologia del Peru : organo oficial de la Sociedad de Gastroenterologia del Peru 2019; (39(3)):280-283.

c.1227_1228dupGG (p.Glu410Glyfs), a frequent variant in Tunisian patients with MUTYH associated polyposis.

Kdissa A, Brusgaard K, Ksiaa M, et al.

Cancer genetics 2020; (240()):45-53 doi:10.1016/j.cancergen.2019.10.007.

Dento-osseous anomalies in patients with familial adenomatous polyposis: A follow-up study.

Almeida FT, Leite AF, de Souza Figueiredo PT, et al.

Clinical oral investigations 2020; (24(10)):3501-3511 doi:10.1007/s00784-020-03220-9.

Does ileoanal pouch surgery increase the risk of desmoid in patients with familial adenomatous polyposis?

Xie M, Chen Y, Wei W, et al.

International journal of colorectal disease 2020; (35(8)):1599-1605 doi:10.1007/s00384-020-03578-y.

Safety and efficacy of gamma-secretase inhibitor nirogacestat (PF-03084014) in desmoid tumor: Report of four pediatric/young adult cases.

Takahashi T, Prensner JR, Robson CD, et al.

Pediatric blood & cancer 2020; (67(10)):e28636 doi:10.1002/pbc.28636.

Wnt-Independent and Wnt-Dependent Effects of APC Loss on the Chemotherapeutic Response.

Stefanski CD, Prosperi JR

International journal of molecular sciences 2020; (21(21)) doi:10.3390/ijms21217844.

Gardner syndrome with giant abdominal desmoid tumor during pregnancy: a case report.

Jin L, Tan Y, Su Z, et al.

BMC surgery 2020; (20(1)):282 doi:10.1186/s12893-020-00944-z.

Loss of Apc Cooperates with Activated Oncogenes to Induce Liver Tumor Formation in Mice.

Zhang Y, Liang B, Song X, et al.

The American journal of pathology 2021; (191(5)):930-946 doi:10.1016/j.ajpath.2021.01.010.

Next-Generation Sequencing for Non-Ampullary Duodenal Carcinoma Suggesting the Existence of an Adenoma-Carcinoma Sequence.

Yoshida T, Kojima Y, Shimada R, et al.

Case reports in gastroenterology 2021; (15(1)):62-69 doi:10.1159/000510919.

Mutational screening through comprehensive bioinformatics analysis to detect novel germline mutations in the APC gene in patients with familial adenomatous polyposis (FAP).

Ghadamyari F, Heidari MM, Zeinali S, et al.

Journal of clinical laboratory analysis 2021; (35(5)):e23768 doi:10.1002/jcla.23768.

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.

Ishikawa H, Mutoh M, Sato Y, et al.

The lancet. Gastroenterology & hepatology 2021; (6(6)):474-481 doi:10.1016/S2468-1253(21)00018-2.

Desmoid-type fibromatosis: toward a holistic management.

Penel N, Kasper B, van Der Graaf WTA

Current opinion in oncology 2021; (33(4)):309-314 doi:10.1097/CCO.0000000000000743.

Early Development of Colonic Adenocarcinoma With Minimal Polyposis in a Young Child With Metastatic Hepatoblastoma and Germline APC Mutation.

Liu APY, Chung PHY, Au Yeung RKH, et al.

Journal of pediatric hematology/oncology 2021; (43(8)):e1191-e1193 doi:10.1097/MPH.0000000000002209.

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.

Balaguer F, Stoffel EM, Burke CA, et al.

Diseases of the colon and rectum 2022; (65(4)):536-545 doi:10.1097/DCR.0000000000002095.

Risk of extracolonic malignancies and metachronous rectal cancer after colectomy and ileorectal anastomosis in familial adenomatous polyposis.

Sasaki K, Nozawa H, Kawai K, et al.

Asian journal of surgery 2022; (45(1)):396-400 doi:10.1016/j.asjsur.2021.06.034.

Systemic considerations with pigmented fundus lesions and retinal pigment epithelium hamartomas in Turcot syndrome.

Mokhashi N, Cai LZ, Shields CL, et al.

Current opinion in ophthalmology 2021; (32(6)):567-573 doi:10.1097/ICU.0000000000000798.

Endoscopic management of duodenal adenomatosis in familial adenomatous polyposis-A case-based review.

Soons E, Bisseling TM, van Kouwen MCA, et al.

United European gastroenterology journal 2021; (9(4)):461-468 doi:10.1002/ueg2.12071.

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.

Validation of the Endoscopic Part of the Spigelman Classification for Evaluating Duodenal Adenomatosis in Familial Adenomatous Polyposis: A Prospective Study of Interrater and Intrarater Reliability.

Karstensen JG, Bülow S, Burisch J, et al.

The American journal of gastroenterology 2022; (117(2)):343-345 doi:10.14309/ajg.0000000000001582.

Impact of Variant Reclassification in Cancer Predisposition Genes on Clinical Care.

Chiang J, Chia TH, Yuen J, et al.

JCO precision oncology 2021; (5()):577-584 doi:10.1200/PO.20.00399.

Colectomy and desmoid tumours in familial adenomatous polyposis: a systematic review and meta-analysis.

Aelvoet AS, Struik D, Bastiaansen BAJ, et al.

Familial cancer 2022; (21(4)):429-439 doi:10.1007/s10689-022-00288-y.

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.

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.

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.

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.

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.

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.

Management of familial adenomatous polyposis and MUTYH-associated polyposis; new insights.

Aelvoet AS, Buttitta F, Ricciardiello L, Dekker E

Best practice & research. Clinical gastroenterology 2022; (58-59()):101793 doi:10.1016/j.bpg.2022.101793.

Sexual Dysfunction in Female Patients with Inflammatory Bowel Disease: An Overview.

Boyd T, de Silva PS, Friedman S

Clinical and experimental gastroenterology 2022; (15()):213-224 doi:10.2147/CEG.S359367.

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.

De novo familial adenomatous polyposis associated thyroid cancer with a c.2929delG frameshift deletion mutation in APC: a case report and literature review.

Xu M, Zheng Y, Zuo Z, et al.

World journal of surgical oncology 2023; (21(1)):73 doi:10.1186/s12957-023-02951-9.

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.

A case of attenuated familial adenomatous polyposis in which genetic testing revealed that the children were asymptomatic gene carriers.

Sonoda H, Yamada T, Yamaguchi T, et al.

Japanese journal of clinical oncology 2023; (53(9)):866-869 doi:10.1093/jjco/hyad065.

Predicting Duodenal Cancer Risk in Patients with Familial Adenomatous Polyposis Using Machine Learning Model.

Akbulut S, Küçükakçalı Z, Çolak C

The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology 2023; (34(10)):1025-1034 doi:10.5152/tjg.2023.22346.

Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.

Spier I, Yin X, Richardson M, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2024; (26(2)):100992 doi:10.1016/j.gim.2023.100992.

Region-specific Wnt signaling responses promote gastric polyp formation in patients with familial adenomatous polyposis.

McGowan KP, Delgado E, Keeley TM, et al.

JCI insight 2023; (8(24)).

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.

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.

When Germline Genetic Testing Results Are Unclear: Highlighting Variants of Uncertain Significance.

Kelly P, Mahon S, Friend P

Journal of the advanced practitioner in oncology 2023; (14(7)):631-638 doi:10.6004/jadpro.2023.14.7.7.

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.

Adult pancreatoblastoma with atypical histological morphology combined with familial adenomatous polyposis: a rare case report.

Wang YX, Fan SS, Peng XR, et al.

Frontiers in oncology 2024; (14()):1346964 doi:10.3389/fonc.2024.1346964.

Impact of Endoscopic Treatment in Severe Duodenal Polyposis: A National Study in Familial Adenomatous Polyposis Patients.

Le Bras P, Cauchin E, De Lange G, et al.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2024; (22(9)):1839-1846.e1 doi:10.1016/j.cgh.2024.03.007.

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.

Active surveillance and emerging medical treatment options for desmoid: when and for whom?

Bonvalot S, Miah A, Kasper B

Current opinion in oncology 2024; (36(4)):263-268 doi:10.1097/CCO.0000000000001049.

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.

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.

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.

Rare Germline Variants in the Adenomatous Polyposis Coli Gene Associated with Dental and Osseous Anomalies.

Büki G, Antal G, Bene J

International journal of molecular sciences 2024; (25(15)) doi:10.3390/ijms25158189.

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.

Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.

Fortuno C, Cops EJ, Davidson AL, et al.

European journal of human genetics : EJHG 2024; (32(12)):1632-1639 doi:10.1038/s41431-024-01705-9.

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.

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.

Late Diagnosis of Familial Adenomatous Polyposis After Acute Lower Gastrointestinal Bleeding: A Case Report.

Logetto Caetité Gomes I, Silva Freire Junior R, Solidade Barreto L, et al.

Cureus 2024; (16(12)):e76467 doi:10.7759/cureus.76467.

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.

[Proctocolectomy for familial adenomatous polyposis and other polyposis].

Fernandez B, Buscail É

Bulletin du cancer 2025; (112(3)):253-258 doi:10.1016/j.bulcan.2024.12.014.

Germinal pathogenic CHEK2, novel APC and somatic JAK2V617F variants in a young patient with colorectal cancer, atypical leukemia, cerebral tumour and aggressive course.

Rojas LXR, Rodriguez JAO, Navarrete SB, et al.

Ecancermedicalscience 2025; (19()):1833 doi:10.3332/ecancer.2025.1833.

Familial adenomatous polyposis: non-surgical management of large bowel disease: endoscopic and chemoprevention strategies.

Daca-Álvarez M, Latchford A, Pellisé M, Balaguer F

Familial cancer 2025; (24(2)):53 doi:10.1007/s10689-025-00480-w.

Japanese society for cancer of the colon and rectum (JSCCR) guidelines 2024 for the clinical practice of hereditary colorectal cancer.

Tanakaya K, Yamaguchi T, Hirata K, et al.

International journal of clinical oncology 2026; (31(1)):1-66 doi:10.1007/s10147-025-02892-1.

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.