Introdução
O que você precisa saber de cara
Uma síndrome de câncer hereditário é um distúrbio genético no qual mutações genéticas herdadas em um ou mais genes predispõem os indivíduos afetados ao desenvolvimento de câncer e também podem causar o início precoce desses cânceres. Síndromes de câncer hereditário frequentemente demonstram não apenas um alto risco vitalício de desenvolver câncer, mas também o desenvolvimento de múltiplos tumores primários independentes.
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 10 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 18 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição.
Bifunctional DNA N-glycosylase with associated apurinic/apyrimidinic (AP) lyase function that catalyzes the first step in base excision repair (BER), the primary repair pathway for the repair of oxidative DNA damage (PubMed:29610152, PubMed:9927729). The DNA N-glycosylase activity releases the damaged DNA base from DNA by cleaving the N-glycosidic bond, leaving an AP site. The AP-lyase activity cleaves the phosphodiester bond 3' to the AP site by a beta-elimination. Primarily recognizes and repa
NucleusMitochondrion
Familial adenomatous polyposis 3
A form of familial adenomatous polyposis, a condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma.
Variantes genéticas (ClinVar)
508 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
5 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Polipose NTHL1-relacionada
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
A paradigm shift in genetic predisposition to colorectal cancer: the impact of germline multigene panel testing on diagnosis and management.
Hereditary colorectal cancer (HCRC), arising from pathogenic germline variants, accounts for 5-10% of all CRCs. The widespread clinical adoption of next-generation sequencing (NGS) and multigene panel testing (MGPT) has fundamentally transformed the diagnostic paradigm for this genetic predisposition. This review summarizes the latest epidemiological data on genetic predisposition to CRC and examines the essential practical changes required for genomics-based precision medicine. Recent large-scale genomic cohort studies have consistently revealed a higher prevalence of pathogenic/likely pathogenic germline variants (PGVs) in unselected CRC populations than previously recognized, ranging from 3.3 to 15.5%. This proportion is dramatically elevated in patients with early onset CRC (EOCRC), defined as a diagnosis before age 50, where prevalence consistently exceeds 15%. Notably, MGPT has expanded the etiological spectrum far beyond Lynch syndrome (LS)-related genes, demonstrating a significant contribution from non-LS and high- and moderate-penetrance genes, particularly those associated with homologous recombination deficiency (HRD). Consequently, the management of genetic predisposition to CRC is rapidly shifting from single syndrome-based diagnoses to individualized precision medicine guided by gene-specific lifetime cancer risks. To realize clinical benefits, two imperatives must be addressed: (1) the implementation of universal genomic screening for all patients with EOCRC and (2) the development of proactive medical-contact approach models in cascade screening for at-risk relatives. Nevertheless, the viability of this proposal varies considerably between Europe, America, and Asia. Considerable uncertainty surrounds implementation in Asia, where a plethora of challenges must be overcome to facilitate the integration of genomic medicine within the Asian context.
Prevalence and Consequences of APC Mosaicism in Patients With Colorectal Adenomas.
A substantial proportion of patients with adenomatous polyposis have no germline pathogenic variant in APC. The aim of this study was to determine the prevalence of APC mosaicism in these patients with unexplained polyposis and to draft guidelines for APC mosaicism testing and surveillance. APC mosaicism was analyzed by targeted next-generation sequencing in 541 patients with a broad spectrum of polyposis phenotypes. The rate of APC mosaicism was 9.4%. This rate was 14.3% (46 of 322) in patients who met the scope of national hereditary polyposis testing guidelines (≥10 adenomas before the age of 60 or with ≥20 adenomas before the age of 70). In patients who did not meet the scope of national guidelines, the detection rate was 2.3% (5 of 219). In patients with ≥20 adenomas before the age of 60 or ≥30 adenomas before the age of 70, the detection rate was ≥10%. Of 34 mosaic patients who underwent an esophagogastroduodenoscopy, 26% were diagnosed with gastroduodenal polyps. In 1 of the 2 patients tested, the mosaic variant was detected in semen, but none of the children tested in this cohort inherited the mosaic variant. We recommend APC mosaicism testing at least in patients negative for germline pathogenic variants with (1) ≥20 adenomas before the age of 60 or (2) ≥30 adenomas before the age of 70. Regular colonoscopy and at least 1 gastroduodenoscopy should be offered to APC mosaic patients, with frequency of follow-up based on findings. Offering germline testing for offspring should be considered.
Incidence of Cancer in Patients With Familial Adenomatous Polyposis in the Netherlands: A Nationwide Cohort Study.
Patients with familial adenomatous polyposis (FAP) are at increased risk of several gastrointestinal and extraintestinal cancers. Although prophylactic surgery has reduced colorectal cancer (CRC) incidence, the lifetime incidence of other cancers has increased. This study assessed the cumulative risks in Dutch FAP patients over the past decades. This nationwide cohort study identified FAP patients from the Netherlands Foundation for Detection of Hereditary Tumors national registry and cross-referenced them with the Dutch Pathology Registry. Cumulative cancer incidences between 1975 and 2024 were estimated using the Fine and Gray competing risk method. Standardized incidence ratios (SIRs) were calculated relative to the general population for all cancer types. A total of 1230 patients (48% women) with FAP were included, of whom 388 (32%) developed a total of 461 cancers. A pathogenic APC variant was identified in 1138 (93%) patients. The most frequently observed cancers were colon (n = 129), rectal (n = 77), duodenal (n = 31), and gastric (n = 28). Since 2020, the observed incidence of gastric cancer has risen to the most commonly diagnosed cancer. SIR analysis showed significantly increased risks for gastrointestinal cancers, including gastric cancer (SIR, 12.02; P < .01), duodenal cancer (SIR, 277.28; P < .01), ampullary cancer (SIR, 113.85; P < .01), CRC (SIR, 14.22; P < .01), small-bowel cancer (SIR, 122.03; P < .01), hepatoblastoma (SIR, 747.52; P < .01), and hepatocellular carcinoma (SIR, 5.43; P = .01). Among extraintestinal cancers, elevated risks were observed for thyroid cancer (SIR, 17.30; P < .01), gynecologic cancers (SIR, 2.27; P < .01), and central nervous system cancers (SIR, 3.79; P < .01). Despite developments in preventive treatments, individuals with FAP remain at increased risk for multiple cancers, underscoring the need for improved screening and surveillance strategies.
Cold snare polypectomy for 10-19 mm colorectal adenomas in familial adenomatous polyposis: a prospective randomized controlled trial.
Background and aims: Evidence for cold snare polypectomy (CSP) in treating 10-19 mm colorectal adenomas in patients with familial adenomatous polyposis (FAP) is limited. This study compared the efficacy and safety of CSP vs. hot snare polypectomy (HSP). Methods: This prospective non-inferiority randomized controlled trial predefined a non-inferiority margin of 4%. A total of 452 colorectal adenomas (10-19 mm) from 41 FAP patients were enrolled between May 2024 and May 2025 and randomized 1:1 to CSP (n = 220) or HSP (n = 232). The primary endpoint was histological complete resection (R0). Subgroup analyses were performed by lesion size (10-15 mm vs. 16-19 mm). Results: R0 resection rates were similar between CSP and HSP (92.3% vs. 92.7%, p = 0.76). CSP was associated with shorter procedure time (4.53 ± 1.18 vs. 6.53 ± 1.46 min, p < 0.01) and lower hospitalization costs (p < 0.01). Intra-procedural bleeding was more frequent with CSP, whereas delayed bleeding and post-polypectomy electrocoagulation syndrome were more common with HSP. At 6 months, recurrence was rare (one lesion in each group). No significant interaction by lesion size was observed. Conclusions: CSP is non-inferior to HSP for R0 resection of 10-19 mm colorectal adenomas in FAP patients and offers advantages in efficiency, safety and cost.
Balancing therapeutic benefits and hidden risks of proton pump inhibitors in pediatric practice: a narrative review and update.
Proton pump inhibitors (PPIs) are drugs whose main effect is catalytic and long-lasting suppression of gastric acid secretion, with an anti-inflammatory effect. The main indications for PPIs use include the treatment of gastroesophageal reflux disease, peptic ulcer disease, functional dyspepsia, Barrett esophagus, eosinophilic esophagitis, and hypersecretory diseases such as gastrinoma and Zollinger-Ellison syndrome. Their contribution to eradication therapy for Helicobacter pylori is also important. However, the long-term use of PPIs has been associated with various adverse drug reactions and complications, such as the development of fundic gland polyposis, atrophic gastritis, gastric cancer, vitamin B12 deficiency, hypomagnesemia, osteoporosis/ fractures, changes in the microbiome, increased risk of infection, necrotizing enterocolitis, renal injury, and other conditions. Thus, administration of PPIs should be based on scientific evidence of their efficacy and safety. Their long-term administration should be cautious, and continuation reassessed frequently. Caution should be exercised when administering PPIs to neonates and infants. This narrative review and update aims to summarize and critically evaluate the current evidence, based on the most recent clinical guidelines, regarding the use of PPIs in children, with a focus on their indications, efficacy, safety, and limitations.
📚 EuropePMCmostrando 198
Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition.
American journal of medical genetics. Part AEndoscopic prediction model for detecting advanced rectal polyps after ileorectal anastomosis in familial adenomatous polyposis: a dual-center retrospective study.
Familial cancerMUTYH cancer-associated variants within the interdomain connector differentially impact glycosylase activity and cellular DNA repair.
bioRxiv : the preprint server for biologyAdvances in the management of chronic rhinosinusitis with nasal polyps. Review of multidisciplinary strategies and innovations in biological treatments.
Acta otorrinolaringologica espanolaPrevalence of Asthma and Associated Comorbidities in the Spanish Population: A Cross-sectional Survey.
Open respiratory archivesCorrelation of the expression of mismatch repair proteins, CDX2, and SATB2 with the clinicopathological parameters of patients with colorectal carcinoma.
Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of MexicoWhat is new on the horizon for the biologics world: New kids of the block - WAO state of art.
The World Allergy Organization journalA paradigm shift in genetic predisposition to colorectal cancer: the impact of germline multigene panel testing on diagnosis and management.
International journal of clinical oncologyBeyond Classification: An Antineutrophil Cytoplasmic Antibody-Associated Vasculitis Overlap Case.
CureusColonoscopy surveillance in Lynch syndrome: what it prevents and what it does not.
Journal of medical geneticsNovel APC promoter 1B variant associated with gastric adenocarcinoma and proximal polyposis of the stomach: a case report.
Frontiers in geneticsIs Prescribing Interval Doses of Low Dose Oral Corticosteroids Still Considered Safe Treatment for Chronic Rhinosinusitis With Nasal Polyposis?
The LaryngoscopeRectal cap polyposis with bleeding.
Clinics and research in hepatology and gastroenterologySingle-port robotic total colectomy: technical standardisation and ergonomic considerations of suprapubic versus periumbilical access.
Updates in surgeryFrom Old Battles Won to New Frontiers in Familial Adenomatous Polyposis.
GastroenterologyMepolizumab in chronic rhinosinusitis with severe nasal polyposis: Real-life Spanish cohort study.
Acta otorrinolaringologica espanolaSafety and efficacy of chemoprevention for familial adenomatous polyposis: a systematic review and meta-analysis.
Annals of coloproctologyPrevalence and Consequences of APC Mosaicism in Patients With Colorectal Adenomas.
GastroenterologyOutcomes of Pancreas-Sparing Total Duodenectomy for Severe Duodenal Polyposis in Patients With Familial Adenomatous Polyposis.
Annals of gastroenterological surgeryChitin Is a Potent Inducer of Type 2 Airway Inflammation Independent of Endogenous Chitinolytic Activity.
AllergyEffects of Tezepelumab in "United Airway Disease" (Asthma and CRSwNP).
Case reports in pulmonologyDistribution of CD4+, CD8 + and CD20 + intraepithelial cells in normal nasal mucosa and sinonasal polyps: a preliminary, observational study.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck SurgerySpectrum of Colopathy and Severe Polyposis Associated with Pentosan Polysulfate Sodium Maculopathy: A Retrospective Case Series.
American journal of ophthalmologyPotential of green tea extract to suppress colorectal polyp development in patients with familial adenomatous polyposis: a double-blind, randomized controlled trial Japan Familial Adenomatous Polyposis Prevention Study (J-FAPP Study I).
Genes and environment : the official journal of the Japanese Environmental Mutagen SocietyFamilial colorectal cancer: risk factors, screening strategies and personalized medicine.
Cancer geneticsGardner syndrome initially misdiagnosed as bilateral breast malignancy: a case report and literature review.
Frontiers in oncologyLaparoscopic versus open ileal POUCH-ANAL anastomosis in paediatric patients: A systematic review and meta-analysis.
Journal of pediatric surgeryA Translational Cell-Culture Study of Jojoba Oil: Potential Uses and Safety Considerations for Nasal Applications.
The Journal of craniofacial surgeryMolecular Basis of Adenomatous Gastrointestinal Polyposis Syndromes: Role of Pathogenic and Benign Variants in Disease Onset.
BiomedicinesDysplastic Transformation in Sporadic Fundic Gland Polyps: Prevalence, Clinical and Endoscopic Characteristics in an Asian Cohort.
CancersIncidence of Cancer in Patients With Familial Adenomatous Polyposis in the Netherlands: A Nationwide Cohort Study.
GastroenterologyManaging Reach Problems in Pouch Surgery: Lengthening Maneuvers and S-Pouch Creation.
Diseases of the colon and rectumCold snare polypectomy for 10-19 mm colorectal adenomas in familial adenomatous polyposis: a prospective randomized controlled trial.
Scandinavian journal of gastroenterologyBalancing therapeutic benefits and hidden risks of proton pump inhibitors in pediatric practice: a narrative review and update.
Clinical and experimental pediatricsGenotype-guided conservative management of mesenteric desmoid tumors: A case report of intermediate-region APC mutations.
MedicineLate-diagnosed bilateral congenital choanal atresia in adulthood: a case report.
Journal of surgical case reportsAGA Clinical Practice Update on Management of Gastric Polyps: Expert Review.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological AssociationEffectiveness of Mepolizumab in Severe Uncontrolled Asthma Associated or Not with EGPA Based on the Exacto Scale and Separ-Remas Criteria.
Journal of asthma and allergyGreen Light for Response: Clinical Stratification of Response to Biologic Therapy in Severe Asthma.
Journal of asthma and allergyAssociation of Adult Chronic Rhinosinusitis With Pediatric Tonsillectomy and Adenoidectomy.
The LaryngoscopeCerebrovascular Malformations Associated With Hereditary Hemorrhagic Telangiectasia and HHT-Like Syndromes: A Comparative Overview.
European journal of neurologyA rare upstream regulatory region mutation in APC presenting as classical familial adenomatous polyposis: A case report and literature review.
Experimental and therapeutic medicineCronkhite-Canada syndrome, hypothyroidism and positive autoantibodies: a case report.
Journal of medical case reportsMental- and physical health, and general well-being in patients with polyposis syndromes: a scoping review.
Familial cancerClinical impact of hospital distance and center transfers on adherence and outcomes in familial adenomatous polyposis: A multicenter retrospective study in a defined region of Japan.
PloS oneLaparoscopic Approach for Total Procto-Colectomy with ilieo-anal pouch Reconstruction for Familial Polyposis Coli.
Diseases of the colon and rectumHereditary Endometrial Cancer: Lynch Syndrome, Mismatch Repair Deficiency, and Emerging Genetic Predispositions-A Comprehensive Review with Clinical and Laboratory Guidelines.
International journal of molecular sciencesClinical, Endoscopic, and Pathologic Spectrum of Pediatric Polyps: A Single-Center Study in the Current Polypectomy Era.
Journal of clinical medicineBeyond biomarkers: the role of clinical factors associated with biologic therapy response in severe asthma.
Annals of medicineInherited cancer syndromes in adult oncology: a referral guide based on malignant tumor and polyp features.
Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of MexicoReal-life outcomes and disadvantages of single radiofrequency reduction of inferior turbinate hypertrophy.
Acta oto-laryngologicaAdvances in pediatric video capsule endoscopy: current applications and future directions.
Frontiers in pediatricsBilateral Nasolabial Cysts Mimicking Inferior Turbinate Hypertrophy in a Patient With Sinonasal Polyposis.
CureusFiliform Polyposis of the Terminal Ileum as the Initial Manifestation of Crohn's Disease: A Case Report.
The American journal of case reportsDevelopment of an artificial intelligence model to identify duodenal polyps in patients with familial adenomatous polyposis.
iGIE : innovation, investigation and insightsBridge the GAPPS (gastric adenocarcinoma and proximal polyposis syndrome).
iGIE : innovation, investigation and insightsIndole-3-Acetic Acid Attenuates Metabolic-Associated Steatohepatitis via APC to Inhibit β-Catenin/Wnt Pathway.
Liver international : official journal of the International Association for the Study of the LiverPapillary urothelial tumor of low malignant potential in a pediatric patient: case associated with Poland syndrome.
Urology case reportsRetinal Pigment Epithelial Hamartomas in Familial Adenomatous Polyposis: New Insights Based on Multimodal Imaging of 233 Lesions.
Ophthalmology. RetinaGermline APC I1307K and MITF E318K variants in a patient with high-grade serous ovarian carcinoma: A case report.
Cancer geneticsLiving with chronic rhinosinusitis with nasal polyposis (CRSwNP): an experience to amplify Italian patients' voices.
Journal of patient-reported outcomesPredictive Factors for Abnormal Diagnostic Colonoscopy Findings among Pediatric Patients: A Retrospective Cohort Study.
Digestive diseases (Basel, Switzerland)The utility of artificial intelligence in visualization of pediatric gastrointestinal mucosa.
Frontiers in pediatricsDeciphering the Causative Role of a Novel APC Gene Variant in Attenuated Familial Adenomatous Polyposis Using Germline DNA-RNA Paired Testing.
BiomedicinesNasal Cytology Is Useful for Evaluating and Monitoring the Therapeutic Response to Biologics in Chronic Rhinosinusitis with Nasal Polyposis.
BiomedicinesExperience of a Referral Center with Desmoid Tumors, Part 2: A Retrospective Analysis of 109 Cases.
CancersRisk factors analysis for small bowel polyp recurrence in children with Peutz-Jeghers syndrome: A retrospective cohort study.
Journal of pediatric gastroenterology and nutritionPolyphenols as Modulators of the BMP Signaling Pathway to Counter Phenotypic Transformation of Colonocytes.
Molecular nutrition & food researchPancreatic cancer risk and survival in patients with Lynch syndrome: a nationwide Dutch cohort study.
EClinicalMedicineSerological and genetic markers in gastric polyps: Diagnostic and prognostic roles of pepsinogen, gastrin-17, and ABO antigens.
MedicineHuman gastric multi-regional assembloids for functional parietal maturation and patient-specific modelling of antral foveolar hyperplasia.
Nature biomedical engineeringMiR-132-3p Regulates Inflammatory Response by Targeting JAK1 in Childhood Allergic Rhinitis and Chronic Rhinosinusitis.
International archives of allergy and immunologyMedicaid Coverage and Utilization for Novel Therapies for Chronic Rhinosinusitis With Nasal Polyposis.
International forum of allergy & rhinologyUnderstanding Polyposis Development: Progress and the Many Remaining Challenges.
GastroenterologyCowden Syndrome in Childhood: Gastrointestinal Involvement in a Multisystem Genetic Disorder-A Case Report.
Reports (MDPI)Cronkhite-Canada syndrome after corticosteroid and mesalazine treatment: A case report and 3-year follow-up.
MedicineLong-term local tumor control by endoscopic radiofrequency ablation for ampullary carcinoma with biliary extension in a patient with familial adenomatous polyposis.
EndoscopyGenetic differences in familial adenomatous polyposis syndrome in a Hungarian population: A prospective single center study.
World journal of gastroenterologyFrom trial to real life: ten-year impact of a nutraceutical strategy on duodenal polyp burden in familial adenomatous polyposis.
Frontiers in oncologyPsychosocial Functioning of Youth with Hereditary Polyposis Syndromes and Their Caregivers.
The Journal of pediatricsThe emerging role of anti-thymic stromal lymphopoietin monoclonal antibody (Tezepelumab) in comorbid and non-comorbid CRSwNP patients: a scoping review.
Brazilian journal of otorhinolaryngologyUnderstanding airflow dynamics: a computational study of nasal and oral breathers using patient-specific models.
BDJ openHereditary ovarian cancer.
Discover oncologyIncidental Adrenal Lesions in Familial Adenomatous Polyposis.
JCO precision oncologyDevelopment of an APC and TP53-based duplex sequencing assay to positively predict colorectal cancer response to anti-EGFR therapy.
Cellular oncology (Dordrecht, Netherlands)Mutational Landscape of Colorectal Tumors From Individuals With Unexplained Adenomatous or Serrated Colorectal Polyposis.
GastroenterologyUtility of colon capsule endoscopy in colorectal cancer and post-polypectomy surveillance.
European journal of gastroenterology & hepatologyT2-Reg: a regional web registry on Th2-mediated diseases.
Italian journal of dermatology and venereologyPhenotypic Spectrum of Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS) in Denmark: A Case Series Characterizing the First Danish Families With the APC Promotor 1B Variant c.-191T > C.
Case reports in geneticsChallenging Aspects of Familial Adenomatous Polyposis With Malignant Transformation: A Report of Two Cases.
CureusUpper and lower airways response to tezepelumab in asthma patients with / without comorbid nasal polyposis: a 6-months reallife perspective.
RhinologyDupixent's Efficacy in Cystic Fibrosis Related Chronic Rhinosinusitis With Nasal Polyposis: A Pilot Study.
Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial SurgeryThe Need for a Systems Biology Approach in Cancer Explained.
International journal of molecular sciencesA Tissue Renewal-Based Mechanism Drives Colon Tumorigenesis.
CancersAn Exploration of Nursing Roles in Hereditary Colorectal Cancer- A Narrative Literature Review.
Seminars in oncology nursingAdenomatous Polyposis Coli Gene Polyposis-Related Syndromes.
The American journal of gastroenterologySurgical Resection with Posterior Rectus Sheath Preservation and Mesh Reconstruction without Pursuing Wide Negative Margins for an Abdominal Wall Desmoid in Familial Adenomatous Polyposis: A Case Report.
Surgical case reportsPrognosis of Korean patients with familial adenomatous polyposis who did not undergo colectomy: a retrospective study.
Clinical endoscopyProtein-Losing Enteropathy Caused by Ascending Colon Cancer without Polyposis: A Rare Case Diagnosed by Scintigraphy.
Surgical case reportsBarriers and interventions to improve the uptake of cancer risk management strategies in hereditary cancer syndromes: a narrative review.
International journal of gynecological cancer : official journal of the International Gynecological Cancer SocietyReview of Familial Adenomatous Polyposis: Current Understanding and Clinical Management.
JCO oncology practiceEarly and Sustained Improvements in Sense of Smell With Tezepelumab Treatment in Patients With Chronic Rhinosinusitis With Nasal Polyps (WAYPOINT).
International forum of allergy & rhinologyReal-World Effectiveness of Benralizumab in Severe Eosinophilic Asthma: A 32-Week Evaluation.
International archives of allergy and immunologyEarly genetic events in the colorectal carcinogenic pathway of familial adenomatous polyposis and sporadic polyp: germline and somatic alterations in carcinogenesis.
Frontiers in geneticsBurden of Type 2 and Oral Corticosteroids Related Comorbidities in Severe Asthma Patients from the Gulf Countries: A Comparative Study from The ISAR Registry.
Journal of asthma and allergyCase Report: Expansion of the POLD1-related polymerase proofreading-associated polyposis spectrum: first report of duodenal adenocarcinomas and characterization of two likely pathogenic variants.
Frontiers in oncologyEndoscopic sinus surgery versus biologic therapy for chronic rhinosinusitis with nasal polyposis: a systematic review with meta-analysis.
RhinologyTargeting PTPN13 with 11-amino-acid peptides of C-terminal APC prevents immune evasion of colorectal cancer.
Cell researchSleep and chronic rhinosinusitis: a systematic review of postoperative data.
Sleep science (Sao Paulo, Brazil)Chronic Rhinosinusitis and Autoimmune Diseases: A Comprehensive Large Population-Based Analysis.
Laryngoscope investigative otolaryngologyPhenotypic Remodeling of γδ T Cells in Non-Eosinophilic Chronic Rhinosinusitis with Nasal Polyposis.
Medicina (Kaunas, Lithuania)Association of Familial Adenomatous Polyposis With Classic Papillary Thyroid Carcinoma and Acromegaly: A Case Report.
AACE endocrinology and diabetesManagement of maxillary polyposis through siddha - A case report.
BioinformationA Clinically Relevant Classification and Staging System for Chronic Rhinosinusitis with Nasal Polyposis: A Cross-Sectional Study.
Diagnostics (Basel, Switzerland)Differential phenotypes in mice with smooth muscle-specific heterozygous versus homozygous deletion of Stk11.
Scientific reportsCurcumin in colorectal cancer: preventive strategies and therapeutic mechanisms.
Cancer chemotherapy and pharmacologyIleoanal pouch surgery in 2026.
Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and IrelandA prospective study comparing the efficacy of Budesonide nasal douching vs. Fluticasone nasal spray in Post FESS patients.
The Medical journal of MalaysiaGenetically Induced Mouse Model for Colon-specific Epithelial Cell Tumorigenesis Driven by Loss of K8 and Apc.
Cellular and molecular gastroenterology and hepatologyAPC loss promotes endometrial cancer progression by upregulating FGF12 expression: A integrated multi-omics analysis.
Chinese medical journalBenralizumab Affects Specific Compartments in Severe Asthma Patients With Chronic Rhinosinusitis and Nasal Polyposis.
Clinical and experimental allergy : journal of the British Society for Allergy and Clinical ImmunologyComparison between germline and somatic loss-of-function RNF43 mutations reveals different genotype-phenotype associations and provides insights into the genetic mechanisms of colorectal tumourigenesis.
GutAppropriate use of biologics in management of chronic rhinosinusitis with nasal polyposis.
Current opinion in otolaryngology & head and neck surgeryNon-Syndromic Ganglioneuromatosis of the Gallbladder, an Extremely Rare Condition: Case Report and Literature Review.
Reports (MDPI)Metastatic colorectal adenocarcinoma with APC and EGFR L858R co-mutations: a case report.
The oncologistOverview of Biologics Targeting Type 2 Inflammation in Respiratory Disease.
The journal of allergy and clinical immunology. In practiceAbnormal MUC1 Expression as a Biomarker for Pouchitis.
Digestive diseases and sciencesImmediate sequential bilateral retinal detachment repair in a patient with suspected COL2A1 and APC mutations.
Journal of vitreoretinal diseasesChronic Rhinosinusitis With Nasal Polyps Successfully Treated With Tezepelumab After an Inadequate Response to Dupilumab: A Case Report.
CureusAstilbin inhibits intestinal polyps via modulating the intestinal barrier, gut microbiota, and the intestinal inflammatory environment in mice.
Phytomedicine : international journal of phytotherapy and phytopharmacologyAn Uncommon Cause of Refractory Chronic Diarrhea.
GastroenterologyGenotype-phenotype correlations in NTHL1-associated tumour syndrome: case report and literature review.
Swiss medical weeklyAutologous Adipose Tissue Injection as Treatment for Ileoanal Pouch-Related Fistulae.
United European gastroenterology journalTwo cases of genetic testing for familial adenomatous polyposis without a family history.
International cancer conference journalCronkhite-Canada Syndrome With Multiple Mesenteric Lymphadenopathy: A Case Report.
JGH open : an open access journal of gastroenterology and hepatologyClinicopathological and molecular mechanisms of cribriform morular thyroid carcinoma: a case report and a literature review.
Annals of medicine and surgery (2012)Secure Ileal Pouch-Anal Anastomosis for Histologic Indeterminate Colitis.
Journal of clinical medicineFactors Influencing Outcome After Frontal Beak Reduction-Does the Surgical Tool Matter?
Journal of clinical medicinePouch excision, dysplasia and polypectomy in familial adenomatous polyposis ileal pouch anal anastomosis: a retrospective analysis.
BMJ open gastroenterologyManagement of Ileal Pouch Cancer in Patients With Inflammatory Bowel Disease.
Gastro hep advancesIleostomy Adenocarcinoma After Recurrent Rectal and Colon Cancer: A Case Report and Literature Review.
CureusDose-Response Relationship of Niclosamide and Metformin Combination in ApcMin/+ Mice: An Integrated In Vivo and Pharmacokinetic Modeling Study.
Gut and liverComparison of Postoperative Morbidity After Total Colectomy With Ileorectal Anastomosis Vs Proctocolectomy With IPAA in Familial Adenomatous Polyposis.
Diseases of the colon and rectumCross-cultural adaptation and psychometric validation of the Spanish version of the Nasal Polyposis Quality of Life Questionnaire (NPQ).
Acta otorrinolaringologica espanolaKRAS-G12C: The neglected biomarker to detect patients with MUTYH-associated polyposis.
International journal of cancerExtrahepatic portal vein obstruction associated with juvenile polyposis-hereditary haemorrhagic telangiectasia overlap syndrome.
Clinical journal of gastroenterologyAdvances in research on congenital and hereditary intestinal diseases: From molecular mechanisms to precision medicine.
Intractable & rare diseases research[Surgical Management of a Complicated Retained Endoscopic Capsule. A Case Report].
Acta gastroenterologica LatinoamericanaEFFICACY OF NASAL IRRIGATION WITH ISOTONIC AND HYPERTONIC SOLUTIONS AFTER ENDOSCOPIC SINUS SURGERY FOR CHRONIC RHINOSINUSITIS WITH NASAL POLYPOSIS.
Acta clinica CroaticaDecay of driver mutations shapes the landscape of intestinal transformation.
NatureThe c.1744G > C, p.(Glu582Gln) missense variant in coding exon 14 of APC increases skipping of a natural occurring isoform and causes Familial Adenomatous Polyposis.
Journal of cancer research and clinical oncologyClinical relevant Bruton's X-linked tyrosine kinase deficiency in a female with extreme X-chromosome inactivation.
Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical ImmunologySignificant progress in hereditary gastrointestinal cancer research presented at the meeting of the International Society for Gastrointestinal Hereditary Tumors (InSiGHT) 10th meeting of InSiGHT, June 19th -22nd, 2024, Barcelona, Spain.
Familial cancerCumulative incidence and risk factors for advanced neoplasia following inflammatory bowel disease-related low-grade dysplasia: a Danish nationwide cohort study.
Journal of Crohn's & colitisEvidence for Wnt/β-Catenin-Activated Rosette-Forming Carcinoma Arising in Rb-Inactivated Bowen Disease.
Journal of cutaneous pathologyDupilumab Dampens Mucosal Type 2 Response During Acetylsalicylic Acid Challenge in N-ERD Patients.
Clinical and experimental allergy : journal of the British Society for Allergy and Clinical ImmunologyShort-Chain Fatty Acids and Colorectal Cancer: A Systematic Review and Integrative Bayesian Meta-Analysis of Microbiome-Metabolome Interactions and Intervention Efficacy.
Nutrients[Preventive Surgery for Hereditary Gastric Cancer].
Zentralblatt fur ChirurgieUpdated genetic testing in individuals with unexplained adenomatous polyposis and the diagnostic yield.
Familial cancerThe Role of MUC1 in Chronic Rhinosinusitis with Nasal Polyps (CRSwNP): The Correlation with Disease Severity.
Journal of personalized medicinePolyclonal origins of human premalignant colorectal lesions.
bioRxiv : the preprint server for biologyFactors Associated With Systemic Corticosteroid Use in Patients With Asthma: A Real-Life Study.
CureusPancreatic cancer surveillance not recommended for familial adenomatous polyposis: a fine and gray risk analysis.
Familial cancerSingle-dose DSS-induced inflammation enhances colorectal tumorigenesis in APC and KRAS mutant mice.
Scientific reportsClinical challenges of cancer predisposition syndromes with pediatric central nervous system tumors: a single-center study.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryChlamydia muridarum Infection Impacts Murine Models of Intestinal Inflammation and Cancer.
Journal of the American Association for Laboratory Animal Science : JAALASReal-World Treatment Patterns in AERD: An Analysis of ATAD, Biologics, and Combination Therapy.
International forum of allergy & rhinologyDouble Omental Hernia: A Case Report and Literature Review.
CureusCronkhite-Canada syndrome presenting with chronic diarrhea: A case report.
MedicineIdentification of a Mosaic BMPR1A Pathogenic Variant in Juvenile Polyposis Syndrome: A Case Study and Its Impact on Cancer Screening.
Case reports in geneticsThe expression of Mutl Protein Homolog 1 (MLH1) and Muts Homolog 2 (MSH2) in colorectal carcinoma: An immunohistochemical study.
Indian journal of pathology & microbiologyParents' perspectives of non-informative germline genetic testing in children with Juvenile Polyposis Syndrome.
Journal of genetic counselingManagement of Chronic Rhinosinusitis with or Without Nasal Polyposis.
Immunology and allergy clinics of North AmericaPathophysiology of Chronic Rhinitis and Chronic Sinusitis With and Without Nasal Polyposis.
Immunology and allergy clinics of North AmericaSingle-stage laparoscopic proctocolectomy with ileal pouch-anal anastomosis for familial adenomatous polyposis.
Pediatric surgery internationalNovel Chronic Rhinosinusitis (CRS) Subtypes Based on Clinical Features and Response to Treatment.
The journal of allergy and clinical immunology. In practiceDesmoid Tumors-Experience from a Referral Center, Part 1: Multidisciplinary Review and Practical Recommendations.
CancersAdvances in Hereditary Colorectal Cancer: How Precision Medicine Is Changing the Game.
CancersThe Role of Video Capsule Endoscopy in Hereditary Polyposis Syndromes: A Narrative Review.
Diagnostics (Basel, Switzerland)Colonic Ganglioneuroma-A Rare Finding During Colonoscopy.
Diagnostics (Basel, Switzerland)Risk factors for dysplastic lesions in the proximal stomach in patients with familial adenomatous polyposis.
Endoscopy international openTruncated APC impairs innate immune response by targeting MAVS on mitochondria in colorectal cancer.
Journal of translational medicineJapanese society for cancer of the colon and rectum (JSCCR) guidelines 2024 for the clinical practice of hereditary colorectal cancer.
International journal of clinical oncology131 genetic loci highlight immunological pathways and tissues in nasal polyposis and asthma.
Nature communications[Surgical Management of Hereditary Colorectal Cancer Syndromes].
Zentralblatt fur Chirurgie[Clinical case: the effectiveness of genetically engineered biological therapy in a patient with orbital wall defects caused by chronic polyposis rhinosinusitis].
Vestnik otorinolaringologii[Intranasal stents in endoscopic paranasal sinus surgery: a review of efficacy and safety].
Vestnik otorinolaringologiiThe genetic puzzle of FAP: exploring novel diagnostic approaches for APC/MUTYH-negative case.
Hereditary cancer in clinical practiceThe efficacy of genetic counselling for familial colorectal cancer. A randomised clinical trial.
European journal of human genetics : EJHGThe mutational factors influencing the therapeutic response and prognosis of stage IV CRC patients undergoing simultaneous resection of primary and liver metastatic lesions and subsequent adjuvant therapy---A pilot study on the prognosis of stage IV CRC.
Arab journal of gastroenterology : the official publication of the Pan-Arab Association of GastroenterologyTranscriptomic profiling reveals the role of Hedgehog signaling as a biomarker and in the pathogenesis of Ménétrier's disease.
The Journal of pathologySomatic DICER1 pathogenic variants detected in a well-differentiated fetal lung adenocarcinoma diagnosed in a man with familial adenomatous polyposis.
BJC reportsClinical Practice Guideline: Colorectal Cancer—Diagnosis, Treatment, Prevention, and Long-Term Follow-Up Care.
Deutsches Arzteblatt internationalIntussusception secondary to Peutz-Jeghers syndrome: a case report and literature review of diagnostic and therapeutic advances.
Frontiers in medicineManagement of desmoid tumors associated with familial adenomatous polyposis: a three-decade experience of a tertiary center in Brazil.
Arquivos brasileiros de cirurgia digestiva : ABCD = Brazilian archives of digestive surgeryLong-Term Risk of Revision Surgery Following Balloon Sinuplasty Versus Endoscopic Sinus Surgery.
The Annals of otology, rhinology, and laryngologyPreliminary Analysis to Quantify Sinonasal Airspace Changes in Chronic Rhinosinusitis.
The Annals of otology, rhinology, and laryngologyRecurrent gastric solitary Peutz-Jeghers polyp after endoscopic treatment: A case report and literature review.
MedicineAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Polipose NTHL1-relacionada.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Polipose NTHL1-relacionada
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- A paradigm shift in genetic predisposition to colorectal cancer: the impact of germline multigene panel testing on diagnosis and management.
- Prevalence and Consequences of APC Mosaicism in Patients With Colorectal Adenomas.
- Incidence of Cancer in Patients With Familial Adenomatous Polyposis in the Netherlands: A Nationwide Cohort Study.
- Cold snare polypectomy for 10-19 mm colorectal adenomas in familial adenomatous polyposis: a prospective randomized controlled trial.
- Balancing therapeutic benefits and hidden risks of proton pump inhibitors in pediatric practice: a narrative review and update.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:454840(Orphanet)
- OMIM OMIM:616415(OMIM)
- MONDO:0014630(MONDO)
- GARD:17790(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Q55784909(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
