Introdução
O que você precisa saber de cara
Câncer colorretal hereditário não polipoide (HNPCC) é uma predisposição hereditária ao câncer de cólon.
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 2 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 7 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
2 genes identificados com associação a esta condição.
As the catalytic component of the trimeric (Pol-delta3 complex) and tetrameric DNA polymerase delta complexes (Pol-delta4 complex), plays a crucial role in high fidelity genome replication, including in lagging strand synthesis, and repair (PubMed:16510448, PubMed:19074196, PubMed:20334433, PubMed:24022480, PubMed:24035200, PubMed:31449058). Exhibits both DNA polymerase and 3'- to 5'-exonuclease activities (PubMed:16510448, PubMed:19074196, PubMed:20334433, PubMed:24022480, PubMed:24035200). Req
Nucleus
Colorectal cancer 10
A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.
Catalytic component of the DNA polymerase epsilon complex (PubMed:10801849). Participates in chromosomal DNA replication (By similarity). Required during synthesis of the leading DNA strands at the replication fork, binds at/or near replication origins and moves along DNA with the replication fork (By similarity). Has 3'-5' proofreading exonuclease activity that corrects errors arising during DNA replication (By similarity). Involved in DNA synthesis during DNA repair (PubMed:20227374, PubMed:27
Nucleus
Colorectal cancer 12
A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. CRCS12 is characterized by a high-penetrance predisposition to the development of colorectal adenomas and carcinomas, with a variable tendency to develop multiple and large tumors. Onset is usually before age 40 years. The histologic features of the tumors are unremarkable.
Variantes genéticas (ClinVar)
2,459 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
20 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 relacionada com a polimerase de revisão
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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
Hereditary Endometrial Cancer: Lynch Syndrome, Mismatch Repair Deficiency, and Emerging Genetic Predispositions-A Comprehensive Review with Clinical and Laboratory Guidelines.
Endometrial cancer is the most common gynaecologic malignancy in high-income countries, with a rising incidence largely driven by reproductive factors, obesity, and prolonged exposure to unopposed oestrogens. Although most cases are sporadic, approximately 2-5% are associated with hereditary cancer syndromes, of which Lynch syndrome represents the most important contributor. Lynch syndrome results from germline mutations in DNA mismatch repair (MMR) genes and is associated with a substantially increased lifetime risk of endometrial cancer, reaching up to 71% in carriers of MutS homologue 6 (MSH6) mutations. Hereditary cancer predisposition typically follows an autosomal dominant inheritance pattern and may be suspected based on clinical warning signs such as early disease onset, multiple primary malignancies, a strong family history, or the presence of microsatellite instability in tumour tissue. In addition to Lynch syndrome, rarer genetic conditions-including Cowden syndrome (PTEN), Li-Fraumeni syndrome (TP53), polymerase proofreading-associated polyposis (POLE/POLD1), and hereditary breast and ovarian cancer syndromes (BRCA1/2)-also contribute to hereditary endometrial cancer risk. Recognition of these genetic backgrounds is essential for accurate diagnosis, personalised surveillance, and the implementation of targeted preventive and therapeutic strategies. Despite major advances in molecular diagnostics, hereditary endometrial cancer remains frequently underdiagnosed, leading to missed opportunities for cancer prevention among affected individuals and their families. This comprehensive review summarises current evidence on hereditary predispositions to endometrial cancer, with a particular emphasis on Lynch syndrome, and discusses underlying genetic mechanisms, inheritance patterns, diagnostic strategies, and clinical implications for screening, genetic counselling, and treatment optimisation.
A Case of Polymerase Proofreading-Associated Polyposis: Challenges in Genetic Diagnosis.
Polymerase proofreading-associated polyposis (PPAP) is a rare autosomal dominant hereditary syndrome caused by germline pathogenic variants in the POLE or POLD1 genes. It is clinically similar to familial adenomatous polyposis (FAP) and Lynch syndrome, making diagnosis difficult. Although the number of reported cases is increasing globally, PPAP remains underrecognized, particularly in Japan. Accurate diagnosis often requires comprehensive genetic testing, including multi-gene panel analysis and variant reinterpretation. We report a rare case of PPAP in a 50-year-old woman with a complex clinical history involving multiple primary malignancies. The patient developed ovarian cancer in her 20s, followed by endometrial and contralateral ovarian cancers in her 30s. She was also diagnosed with early-stage colorectal cancer and polyposis, for which she underwent total colectomy with ileorectal anastomosis. Initially, she was suspected to have FAP or Lynch syndrome, but genetic testing revealed no pathogenic variants in APC, MUTYH, or mismatch repair genes. Subsequent multi-gene panel testing identified a POLE variant of uncertain significance (VUS), which was later reclassified as likely pathogenic. Based on this reinterpretation and her clinical phenotype, a diagnosis of PPAP was made. Her disease course included recurrent rectal polyps and carcinoma after colectomy, as well as breast cancer. No upper gastrointestinal polyposis was observed. This case represents one of the few reported instances of PPAP in Japan and illustrates the diagnostic complexity of hereditary polyposis syndromes. It highlights the critical role of multi-gene panel testing and the importance of variant reinterpretation in establishing a definitive diagnosis. Continued surveillance and multidisciplinary care are essential for managing patients with PPAP.
Exploration of different quantitative polymerase chain reaction-based genotyping methods to distinguish Apcmin/+ mice from wildtype mice.
Various molecular methods have been established for genotyping single-nucleotide variants (SNVs). However, despite the widespread availability of quantitative polymerase chain reaction (qPCR) instruments in biomedical laboratories, the lack of professional analytical tools impedes the application of qPCR in genotyping. Apcmin/+ mice, which harbour a germline Apc mutation (g.2549T>A) associated with multiple intestinal neoplasms, are extensively employed in colorectal cancer research. In this study, we used Apc as a model and assessed the feasibility of different qPCR-based methods for SNV genotyping, considering approaches with and without genotyping analytical tools. We initially employed allele-specific PCR followed by electrophoresis to determine the genotypes of Apc in tail tissues from potential Apcmin/+ mice, and this method served as the benchmark for evaluating the performance of qPCR-based methods. Dye-based qPCR and melting curve assays exhibited distinct dissociation patterns that differentiated between synthesised wildtype (TT) and heterozygous mutant (TA) DNA and between TT and TA genotype mice based on analysis of tissue samples. This discrimination ability of these assays was unaffected by the use of different intercalating dyes (SYBR Green I or EvaGreen). Dual-probe qPCR assays were developed to simultaneously detect mutant and wildtype alleles using differently labelled probes. The genotyping module and delta cycle threshold method were used to facilitate the analysis of results. The qPCR-based methods displayed 100% agreement with the standard genotyping outcomes. When the PCR-electrophoresis method was used, approximately 15% of the samples required re-examination to obtain conclusive results. In contrast, when the qPCR methods were used, success rates exceeding 99% were achieved with a single test. Additionally, all qPCR-based methods determined mouse genotypes by analysis of stool samples, highlighting the applicability of these methods for non-invasive genotyping. Loss of heterozygosity in the Apc gene in intestinal polyps was detected using the dual-probe assay with delta cycle threshold method. In summary, this study successfully implemented intercalator-based and probe-based qPCR methods, with and without professional analytical modules, for characterising Apc in tissue and stool samples. Furthermore, these methods can be extended to allow genotyping of other SNVs and can facilitate non-invasive genotyping of transgenic animals.
Case Report: Expansion of the POLD1-related polymerase proofreading-associated polyposis spectrum: first report of duodenal adenocarcinomas and characterization of two likely pathogenic variants.
Polymerase proofreading-associated polyposis (PPAP) is a rare autosomal dominant cancer predisposition syndrome caused by germline pathogenic variants in POLE or POLD1. While colorectal and endometrial cancers are the most frequent manifestations, the full tumor spectrum of POLD1-related PPAP remains incompletely defined. We describe two families carrying germline POLD1 variants classified as likely pathogenic. A novel missense variant c.1481T>G p.(Ile494Ser) and a recurrent missense variant c.1204G>A p.(Asp402Asn) were identified within the exonuclease domain. Both variants exhibited features consistent with pathogenicity, including high tumor mutational burden (TMB) and SBS10d mutational signature. Affected carriers developed colorectal and endometrial cancers, but also duodenal adenocarcinomas: this is the first report of this tumor type in germline POLD1 carriers. Our report expands both the phenotypic and molecular spectrum of POLD1-associated PPAP by documenting the first duodenal adenocarcinomas in germline carriers and describing a novel variant. These findings emphasize the need for systematic upper gastrointestinal surveillance, support the systematic reporting of rare POLD1 variants to refine genotype-phenotype correlations, and underline the potential therapeutic relevance of identifying carriers in the context of immunotherapy.
APC loss promotes endometrial cancer progression by upregulating FGF12 expression: A integrated multi-omics analysis.
Endometrial cancer (EC) is one of the most common gynecological cancers worldwide. High-order chromatin structure plays a critical role in regulating gene expression. Our previous study identified frequent mutations in the chromatin remodeling-related gene adenomatous polyposis coli (APC) in EC. Here, we investigated the role of APC in chromatin remodeling and EC progression. The efforts of APC against EC cells in vitro and in vivo were characterized by gene expression and overall survival analysis with The Cancer Genome Atlas (TCGA) database, Western blotting, RNA isolation and quantitative real-time polymerase chain reaction (RT-PCR), the integrated multiomics analysis, lentivirus transfection, nude mice tumorigenesis experiment and immunohistochemistry. APC expression was reduced in EC tissues, and APC-knockdown KLE cells exhibited enhanced cell migration. Integrated multi-omics analyses, including RNA sequencing (RNA-seq), assay for transposase-accessible chromatin by high-throughput sequencing (ATAC-seq), and high-through chromosome conformation capture (Hi-C), compared control and APC-knockdown KLE cells. These analyses identified fibroblast growth factor 12 (FGF12) as a differentially expressed gene (DEG) localized to switched chromatin compartments, cell-specific boundaries, and loops, with elevated expression in APC-knockdown cells. High FGF12 expression correlated with poor prognosis in EC patients. Knockdown of FGF12 in APC-deficient KLE cells reversed the enhanced migratory phenotype. Loss of APC promotes EC cell migration and reprograms chromatin architecture to upregulate FGF12, activating tumorigenesis-related protein kinase B (AKT) and mitogen-activated protein kinase (MAPK) signaling pathways and driving EC progression. Elevated FGF12 levels are associated with poor prognosis, highlighting its potential as a therapeutic target for EC patients with low APC expression.
📚 EuropePMCmostrando 199
Hereditary Endometrial Cancer: Lynch Syndrome, Mismatch Repair Deficiency, and Emerging Genetic Predispositions-A Comprehensive Review with Clinical and Laboratory Guidelines.
International journal of molecular sciencesCase 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 oncologyAPC loss promotes endometrial cancer progression by upregulating FGF12 expression: A integrated multi-omics analysis.
Chinese medical journalThe genetic puzzle of FAP: exploring novel diagnostic approaches for APC/MUTYH-negative case.
Hereditary cancer in clinical practiceMathematical Modeling Quantifies "Just-Right" APC Inactivation for Colorectal Cancer Initiation.
Cancer researchA Case of Polymerase Proofreading-Associated Polyposis: Challenges in Genetic Diagnosis.
JGH open : an open access journal of gastroenterology and hepatologyMicroRNA 195, lactate dehydrogenase 5, phosphatase and tensin homologue in colorectal cancer: Clinicopathology and prognosis.
World journal of gastrointestinal surgeryComparative Analysis of Somatic and Germline Polymerase Proofreading Deficiencies in Cancer: Molecular and Clinical Implications.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, IncBeyond proofreading: POLD1 mutations as dynamic orchestrators of genomic instability and immune evasion in cancer.
Frontiers in immunologyEvaluation of BRAF and KRAS Gene Expression in Nasal Polyposis.
Turkish archives of otorhinolaryngologyIdentification and Targeting of POLQ-Associated Hereditary Colorectal Cancer.
Clinical cancer research : an official journal of the American Association for Cancer ResearchLacticaseibacillus casei 393 modulates KRAS and APC expression and cytokine levels in colitis-associated colon cancer.
Journal of gastrointestinal oncologyGenetics, genomics and clinical features of adenomatous polyposis.
Familial cancerExploration of different quantitative polymerase chain reaction-based genotyping methods to distinguish Apcmin/+ mice from wildtype mice.
PloS oneEthanolic Extract of Red Okra Pods Induces Aberrant Spindle Segregation and Apoptotic Cell Death by Disrupting the Wnt Signaling Pathway in Colon Cancer Cells.
Iranian journal of medical sciencesPINK1-deficiency facilitates mitochondrial iron accumulation and colon tumorigenesis.
AutophagyNRP1 antagonism as a novel therapeutic target in nasal polyps of patients with chronic rhinosinusitis.
AllergySingleNucleotide Polymorphisms as Biomarkers of Mepolizumab and Benralizumab Treatment Response in Severe Eosinophilic Asthma.
International journal of molecular sciencesEffect of vitamin E δ-tocotrienol and aspirin on Wnt signaling in human colon cancer stem cells and in adenoma development in APCmin/+ mice.
CarcinogenesisClinical Updates and Surveillance Recommendations for DNA Replication Repair Deficiency Syndromes in Children and Young Adults.
Clinical cancer research : an official journal of the American Association for Cancer ResearchATG16L1 in myeloid cells limits colorectal tumor growth in ApcMin/+ mice infected with colibactin-producing Escherichia coli via decreasing inflammasome activation.
AutophagyDiscovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells.
European journal of human genetics : EJHGMultiple duodenal epithelial tumors in a patient with polymerase proofreading-associated polyposis in POLE variant.
Clinical journal of gastroenterologyIdentification of driving genes of familial adenomatous polyposis by differential gene expression analysis and weighted gene co-expression network analysis.
Technology and health care : official journal of the European Society for Engineering and MedicineRare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families.
Acta neuropathologica communicationsRecommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1.
Genome medicineFunctional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA.
American journal of human geneticsCase Report: Cancer spectrum and genetic characteristics of a de novo germline POLD1 p.L606M variant-induced polyposis syndrome.
Frontiers in oncologyIdentification of a novel CNV at the APC gene in a Chinese family with familial adenomatous polyposis.
Frontiers in molecular biosciencesUSP25 promotes hepatocellular carcinoma progression by interacting with TRIM21 via the Wnt/β-catenin signaling pathway.
Chinese medical journalLong noncoding RNA UFC1 acts as an oncogene via stimulating EZH2-induced inhibition of APC expression in renal cell carcinoma.
Cellular and molecular biology (Noisy-le-Grand, France)Possible Role of Helicobacter pylori in Ear Nose and Throat Diseases.
Infection and drug resistanceExosomal miR-125b-5p derived from cancer-associated fibroblasts promotes the growth, migration, and invasion of pancreatic cancer cells by decreasing adenomatous polyposis coli (APC) expression.
Journal of gastrointestinal oncologyInfluence of Genetics on the Response to Omalizumab in Patients with Severe Uncontrolled Asthma with an Allergic Phenotype.
International journal of molecular sciencesGenotype-Phenotype Correlations in Autosomal Dominant and Recessive APC Mutation-Negative Colorectal Adenomatous Polyposis.
Digestive diseases and sciencesCharacterization of POLE c.1373A > T p.(Tyr458Phe), causing high cancer risk.
Molecular genetics and genomics : MGGTransferrin Receptor-Mediated Iron Uptake Promotes Colon Tumorigenesis.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis.
BiomoleculesSalivary Fusobacterium nucleatum serves as a potential diagnostic biomarker for gastric cancer.
World journal of gastroenterologyCharacterization of the Notch pathway in nasal polyps of patients with chronic rhinosinusitis: A pilot study.
Physiological reportsA case of early onset adenocarcinoma associated with colorectal polyposis with an unknown germline mutation.
Surgical case reportsPhenotypic continuum between POLE-related recessive disorders: A case report and literature review.
American journal of medical genetics. Part ATankyrase-selective inhibitor STP1002 shows preclinical antitumour efficacy without on-target toxicity in the gastrointestinal tract.
European journal of cancer (Oxford, England : 1990)Molecular epidemiological study of germline APC variant associated with hereditary gastrointestinal polyposis in dogs: current frequency in Jack Russell Terriers in Japan and breed distribution.
BMC veterinary researchRNA polymerase I inhibition induces terminal differentiation, growth arrest, and vulnerability to senolytics in colorectal cancer cells.
Molecular oncologyMolecular analysis of dominant paranasal sinus bacteria in patients with and without chronic rhinosinusitis.
Archives of microbiologyPolymorphisms in Human IL4, IL10, and TNF Genes Are Associated with an Increased Risk of Developing NSAID-Exacerbated Respiratory Disease.
GenesEvaluation of tripartite motif 59 and its diagnostic utility in benign bowel diseases and colorectal cancer.
Journal of biochemical and molecular toxicologyGenomic landscape of colorectal carcinogenesis.
Journal of cancer research and clinical oncologyRectal carcinoma arising in a patient with intestinal and hepatic schistosomiasis due to Schistosoma mekongi.
IDCasesDi-genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition.
Clinical geneticsGenotypic and Phenotypic Characteristics of Hereditary Colorectal Cancer.
Annals of coloproctologyPrediction of hereditary nonpolyposis colorectal cancer using mRNA MSH2 quantitative and the correlation with nonmodifiable factor.
World journal of gastrointestinal pathophysiologyThe Role of Fecal Fusobacterium nucleatum and pks+ Escherichia coli as Early Diagnostic Markers of Colorectal Cancer.
Disease markersConstitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency.
Human mutationEvaluation of MMP-12 expression in chronic rhinosinusitis with nasal polyposis.
RhinologyProtective Role of Spermidine in Colitis and Colon Carcinogenesis.
GastroenterologyA novel BMPR1A mutation affects mRNA splicing in juvenile polyposis syndrome.
Pediatrics international : official journal of the Japan Pediatric SocietyThe prognostic and clinicopathological roles of microsatellite instability, PD-L1 expression and tumor-infiltrating leukocytes in familial adenomatous polyposis.
European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical OncologyPOLE, POLD1, and NTHL1: the last but not the least hereditary cancer-predisposing genes.
OncogeneA practical screening strategy for Lynch syndrome and Lynch syndrome mimics in colorectal cancer.
Journal of cancer research and therapeuticsNeurohormonal markers in chronic rhinosinusitis.
Journal of biological regulators and homeostatic agentsOlaparib enhances curcumin-mediated apoptosis in oral cancer cells by inducing PARP trapping through modulation of BER and chromatin assembly.
DNA repairGenetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genetics in medicine : official journal of the American College of Medical GeneticsTP53-Activated lncRNA GHRLOS Regulates Cell Proliferation, Invasion, and Apoptosis of Non-Small Cell Lung Cancer by Modulating the miR-346/APC Axis.
Frontiers in oncologyThe clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management.
Familial cancerMutational screening through comprehensive bioinformatics analysis to detect novel germline mutations in the APC gene in patients with familial adenomatous polyposis (FAP).
Journal of clinical laboratory analysisIs There an Association Between Nasal Polyposis and ADAMTS Genes Expressions?
The Eurasian journal of medicinePCR-based genotyping assays to detect germline APC variant associated with hereditary gastrointestinal polyposis in Jack Russell terriers.
BMC veterinary researchFurther delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.
Clinical geneticsMUTYH as an Emerging Predictive Biomarker in Ovarian Cancer.
Diagnostics (Basel, Switzerland)Human amnion-derived mesenchymal stem cells promote osteogenic differentiation of lipopolysaccharide-induced human bone marrow mesenchymal stem cells via ANRIL/miR-125a/APC axis.
Stem cell research & therapyBNIP3L-mediated mitophagy is required for mitochondrial remodeling during the differentiation of optic nerve oligodendrocytes.
AutophagyGastric mucosa-associated lymphoid tissue lymphoma in conjunction with multiple lymphomatous polyposis in the context of Helicobacter pylori and Helicobacter suis superinfection.
Clinical journal of gastroenterologyGenomic amplification of chromosome 20q13.33 is the early biomarker for the development of sporadic colorectal carcinoma.
BMC medical genomicsDiscordant DNA mismatch repair protein status between synchronous or metachronous gastrointestinal carcinomas: frequency, patterns, and molecular etiologies.
Familial cancerChloroquine Treatment Suppresses Mucosal Inflammation in a Mouse Model of Eosinophilic Chronic Rhinosinusitis.
Allergy, asthma & immunology researchRole of POLE and POLD1 in familial cancer.
Genetics in medicine : official journal of the American College of Medical GeneticsWnt-induced, TRP53-mediated Cell Cycle Arrest of Precursors Underlies Interstitial Cell of Cajal Depletion During Aging.
Cellular and molecular gastroenterology and hepatologyUpdates in the field of hereditary nonpolyposis colorectal cancer.
Expert review of gastroenterology & hepatologyExpression of Iron-Regulatory Hormone Hepcidin and Iron Transporters Ferroportin and ZIP8 in Patients With and Without Chronic Rhinosinusitis.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck SurgeryCDK11 negatively regulates Wnt/β-catenin signaling in the endosomal compartment by affecting microtubule stability.
Cancer biology & medicineThe first case report of polymerase proofreading-associated polyposis in POLD1 variant, c.1433G>A p.S478N, in Japan.
Japanese journal of clinical oncologyAssociation Between rs1859168/HOTTIP Expression Level and Colorectal Cancer and Adenomatous Polyposis Risk in Egyptians.
Journal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine ResearchHuman amnion-derived mesenchymal stem cells promote osteogenic differentiation of human bone marrow mesenchymal stem cells via H19/miR-675/APC axis.
AgingGenetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction.
Genetics in medicine : official journal of the American College of Medical GeneticsAspirin Reduces Colorectal Tumor Development in Mice and Gut Microbes Reduce its Bioavailability and Chemopreventive Effects.
GastroenterologyMicroRNA-663b enhances migration and invasion by targeting adenomatous polyposis coli 2 in colorectal carcinoma cells.
Oncology lettersSilymarin, boswellic acid and curcumin enriched dietetic formulation reduces the growth of inherited intestinal polyps in an animal model.
World journal of gastroenterologyMicroRNA‑200a promotes esophageal squamous cell carcinoma cell proliferation, migration and invasion through extensive target genes.
Molecular medicine reportsMolecular Aspects of Colorectal Adenomas: The Interplay among Microenvironment, Oxidative Stress, and Predisposition.
BioMed research internationalProtective effect of Matricaria chamomilla extract against 1,2-dimethylhydrazine-induced colorectal cancer in mice.
Journal of complementary & integrative medicineHigh Detection Rate for Non-Muscle-Invasive Bladder Cancer Using an Approved DNA Methylation Signature Test.
Clinical genitourinary cancerFGF9 promotes cisplatin resistance in colorectal cancer via regulation of Wnt/β-catenin signaling pathway.
Experimental and therapeutic medicineInfluence of miR-155 on behaviors of depression mice through regulating Wnt/β-catenin signaling pathway.
European review for medical and pharmacological sciencesThe impact of APC polymorphisms on the transition from polyps to colorectal cancer (CRC).
GeneAn update on the CNS manifestations of brain tumor polyposis syndromes.
Acta neuropathologicaA Novel Tool for Nasal Polyp Investigation: An Ex vivo Organ Culture System.
The Israel Medical Association journal : IMAJExpression of Free Fatty Acid Receptor 2 by Dendritic Cells Prevents Their Expression of Interleukin 27 and Is Required for Maintenance of Mucosal Barrier and Immune Response Against Colorectal Tumors in Mice.
GastroenterologyAutophagy of Intestinal Epithelial Cells Inhibits Colorectal Carcinogenesis Induced by Colibactin-Producing Escherichia coli in ApcMin/+ Mice.
GastroenterologyExpression of Matrix Metalloproteinases and Their Tissue Inhibitors in Chronic Rhinosinusitis With Nasal Polyps: Etiopathogenesis and Recurrence.
Ear, nose, & throat journal6-gene promoter methylation assay is potentially applicable for prostate cancer clinical staging based on urine collection following prostatic massage.
Oncology lettersA pre-catalytic non-covalent step governs DNA polymerase β fidelity.
Nucleic acids researchGenetic Polymorphisms in APC, DVL2, and AXIN1 Are Associated with Susceptibility, Advanced TNM Stage or Tumor Location in Colorectal Cancer.
The Tohoku journal of experimental medicineScreening and computational analysis of colorectal associated non-synonymous polymorphism in CTNNB1 gene in Pakistani population.
BMC medical geneticsHMGA1-mediated miR-671-5p targets APC to promote metastasis of clear cell renal cell carcinoma through Wnt signaling.
NeoplasmaDifferential Expression of TFF1 and TFF3 in Patients Suffering from Chronic Rhinosinusitis with Nasal Polyposis.
International journal of molecular sciencesIL-1RN VNTR, IL-2(-330), and IL-4 VNTR gene polymorphisms in patients with chronic rhinosinusitis with sinonasal polyposis.
Turkish journal of medical sciencesMir-142-3p Regulates Inflammatory Response by Contributing to Increased TNF-α in Chronic Rhinosinusitis With Nasal Polyposis.
Ear, nose, & throat journalDetection and quantification of Staphylococcus in chronic rhinosinusitis.
International forum of allergy & rhinologyAn Update on Inherited Colon Cancer and Gastrointestinal Polyposis.
Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnostiDistinct Colorectal Cancer-Associated APC Mutations Dictate Response to Tankyrase Inhibition.
Cancer discoveryA germline MBD4 mutation was identified in a patient with colorectal oligopolyposis and early‑onset cancer: A case report.
Oncology reportsContribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1- and MSH3-associated polyposes.
Human mutationFast and efficient microfluidic cell filter for isolation of circulating tumor cells from unprocessed whole blood of colorectal cancer patients.
Scientific reportsInhibition of RNA polymerase III transcription by Triptolide attenuates colorectal tumorigenesis.
Journal of experimental & clinical cancer research : CRDevelopment of an MSI-positive colon tumor with aberrant DNA methylation in a PPAP patient.
Journal of human geneticsMiR-125b regulates the proliferation and metastasis of triple negative breast cancer cells via the Wnt/β-catenin pathway and EMT.
Bioscience, biotechnology, and biochemistryLong non-coding RNA miR143HG predicts good prognosis and inhibits tumor multiplication and metastasis by suppressing mitogen-activated protein kinase and Wnt signaling pathways in hepatocellular carcinoma.
Hepatology research : the official journal of the Japan Society of HepatologyAssociation between LINC00657 and miR-106a serum expression levels and susceptibility to colorectal cancer, adenomatous polyposis, and ulcerative colitis in Egyptian population.
IUBMB lifeThe role of inherited genetic variants in colorectal polyposis syndromes.
Advances in geneticsInhibition of phosphodiesterase 4D decreases the malignant properties of DLD-1 colorectal cancer cells by repressing the AKT/mTOR/Myc signaling pathway.
Oncology lettersUpdate on genetic predisposition to colorectal cancer and polyposis.
Molecular aspects of medicineNTHL1-associate polyposis: first Australian case report.
Familial cancerLow frequency of POLD1 and POLE exonuclease domain variants in patients with multiple colorectal polyps.
Molecular genetics & genomic medicineGenomic Features and Clinical Management of Patients with Hereditary Pancreatic Cancer Syndromes and Familial Pancreatic Cancer.
International journal of molecular sciencesmiR-135b promotes proliferation and metastasis by targeting APC in triple-negative breast cancer.
Journal of cellular physiologyYield of Colonoscopy in Identification of Newly Diagnosed Desmoid-Type Fibromatosis with Underlying Familial Adenomatous Polyposis.
Annals of surgical oncologyStriatin is a novel modulator of cell adhesion.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyEffects of Erythromycin on the Proliferation and Apoptosis of Cultured Nasal Polyp-Derived Cells and the Extracellular Signal-Regulated Kinase (ERK)/Mitogen-Activated Protein Kinase (MAPK) Signaling Pathway.
Medical science monitor : international medical journal of experimental and clinical researchGermline mutation p.N363K in POLE is associated with an increased risk of colorectal cancer and giant cell glioblastoma.
Familial cancerNovel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures.
Human mutationEstrogen inhibits osteoclasts formation and bone resorption via microRNA-27a targeting PPARγ and APC.
Journal of cellular physiologyRK-287107, a potent and specific tankyrase inhibitor, blocks colorectal cancer cell growth in a preclinical model.
Cancer scienceDigital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format.
Journal of visualized experiments : JoVECirculating tumor DNA in patients with colorectal adenomas: assessment of detectability and genetic heterogeneity.
Cell death & diseaseTNF-alpha G/A308 polymorphism association with nasal polyposis in North part of Iran.
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 SurgeryRole of Toll-like receptor 9 signaling on activation of nasal polyp-derived fibroblasts and its association with nasal polypogenesis.
International forum of allergy & rhinologyAberrant expression of miR-663 and transforming growth factor-β1 in nasal polyposis in children.
Experimental and therapeutic medicineThe action mechanism of lncRNA-HOTAIR on the drug resistance of non-small cell lung cancer by regulating Wnt signaling pathway.
Experimental and therapeutic medicineCurrent clinical topics of Lynch syndrome.
International journal of clinical oncologyActivin-A Is a Pro-Inflammatory Regulator in Type-2-Driven Upper Airway Disease.
International archives of allergy and immunologyEvaluation of liquid biopsies for detection of emerging mutated genes in metastatic colorectal cancer.
European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical OncologyTNF-α and IL-1 β Cytokine Gene Polymorphism in Patients with Nasal Polyposis.
Turkish archives of otorhinolaryngologySomatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients.
European journal of human genetics : EJHGPolymerase epsilon mutations and concomitant β2-microglobulin mutations in cancer.
GeneExpression profiles of CD11b, galectin-1, beclin-1, and caspase-3 in nasal polyposis.
Turkish journal of medical sciences5-HT7 receptors are over-expressed in patients with nasal polyps.
Ear, nose, & throat journalRisk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1.
Genetics in medicine : official journal of the American College of Medical GeneticsScutellaria barbata D. Don inhibits colorectal cancer growth via suppression of Wnt/β-catenin signaling pathway.
Chinese journal of integrative medicineApplication of digital PCR with chip-in-a-tube format to analyze Adenomatous polyposis coli (APC) somatic mosaicism.
Clinica chimica acta; international journal of clinical chemistryMicroRNA-binding site polymorphisms in genes involved in colorectal cancer etiopathogenesis and their impact on disease prognosis.
MutagenesisA 23-Nucleotide Deletion in STK11 Gene Causes Peutz-Jeghers Syndrome and Malignancy in a Chinese Patient Without a Positive Family History.
Digestive diseases and sciencesMolecular profile of nasopharyngeal carcinoma: analysing tumour suppressor gene promoter hypermethylation by multiplex ligation-dependent probe amplification.
Journal of clinical pathologyLocal Anesthetics Inhibit the Growth of Human Hepatocellular Carcinoma Cells.
Anesthesia and analgesiaIL-25-induced activation of nasal fibroblast and its association with the remodeling of chronic rhinosinusitis with nasal polyposis.
PloS oneSMAD4 impedes the conversion of NK cells into ILC1-like cells by curtailing non-canonical TGF-β signaling.
Nature immunologyCo‑expression of Axin and APC gene fragments inhibits colorectal cancer cell growth via regulation of the Wnt signaling pathway.
Molecular medicine reportsInteraction of tankyrase and peroxiredoxin II is indispensable for the survival of colorectal cancer cells.
Nature communicationsColonic organoids derived from human induced pluripotent stem cells for modeling colorectal cancer and drug testing.
Nature medicineEffects of dual modified resistant indica rice starch on azoxymethane-induced incipient colon cancer in mice.
Experimental and therapeutic medicineNovel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort.
Scientific reportsTargeted sequencing-based analyses of candidate gene variants in ulcerative colitis-associated colorectal neoplasia.
British journal of cancerExome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).
Metabolism: clinical and experimentalImproving Mutation Screening in Patients with Colorectal Cancer Predisposition Using Next-Generation Sequencing.
The Journal of molecular diagnostics : JMD[Hereditary colorectal cancer : An update on genetics and entities in terms of differential diagnosis].
Der PathologeWIF-1 gene inhibition and Wnt signal transduction pathway activation in NSCLC tumorigenesis.
Oncology lettersThe 116G > A MSH6 and IVS1-1121C > T PMS2 Genes Polymorphisms Modulate the Risk of the Sporadic Colorectal Cancer Development in Polish Population.
Pathology oncology research : PORPOLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer.
OncotargetIdentification a nonsense mutation of APC gene in Chinese patients with familial adenomatous polyposis.
Experimental and therapeutic medicineEGFR in Tumor-Associated Myeloid Cells Promotes Development of Colorectal Cancer in Mice and Associates With Outcomes of Patients.
GastroenterologyCorrelation between genotype and phenotype in three families with Peutz-Jeghers Syndrome.
Experimental and therapeutic medicineThe genetic basis of colonic adenomatous polyposis syndromes.
Hereditary cancer in clinical practiceChromosome 19q13 disruption alters expressions of CYP2A7, MIA and MIA-RAB4B lncRNA and contributes to FAP-like phenotype in APC mutation-negative familial colorectal cancer patients.
PloS one[Classification and characteristics of the gastrointestinal polyposis].
Nihon Shokakibyo Gakkai zasshi = The Japanese journal of gastro-enterologyFamilial pancreatic cancer: Concept, management and issues.
World journal of gastroenterologySelenite inhibits glutamine metabolism and induces apoptosis by regulating GLS1 protein degradation via APC/C-CDH1 pathway in colorectal cancer cells.
OncotargetIs Nasal Polyposis Related to Levels of Serum Vitamin D and Vitamin D Receptor Gene Expression?
Medical science monitor : international medical journal of experimental and clinical researchMicroRNA-210 Enhances Fibrous Cap Stability in Advanced Atherosclerotic Lesions.
Circulation researchAPC2 and CYP1B1 methylation changes in the bone marrow of acute myeloid leukemia patients during chemotherapy.
Experimental and therapeutic medicineEvidence of microbiota dysbiosis in chronic rhinosinusitis.
International forum of allergy & rhinologyChanges in intestinal immunity, gut microbiota, and expression of energy metabolism-related genes explain adenoma growth in bilberry and cloudberry-fed ApcMin mice.
Nutrition research (New York, N.Y.)Cascading MutS and MutL sliding clamps control DNA diffusion to activate mismatch repair.
NatureType and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study.
Journal of human genetics[Epidemiology of hereditary colorectal cancer].
Nihon rinsho. Japanese journal of clinical medicineMorphology and genetics of pyloric gland adenomas in familial adenomatous polyposis.
HistopathologyColorectal Adenomatous Polyposis: Heterogeneity of Susceptibility Gene Mutations and Phenotypes in a Cohort of Italian Patients.
Genetic testing and molecular biomarkersVitamin D pathway regulatory genes encoding 1α-hydroxylase and 24-hydroxylase are dysregulated in sinonasal tissue during chronic rhinosinusitis.
International forum of allergy & rhinologyThe somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.
OncotargetAPC promoter is frequently methylated in pancreatic juice of patients with pancreatic carcinomas or periampullary tumors.
Oncology lettersmiR-582-5P induces colorectal cancer cell proliferation by targeting adenomatous polyposis coli.
World journal of surgical oncologyA novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency.
Familial cancerThe role of human papilloma virus and herpes viruses in the etiology of nasal polyposis.
Turkish journal of medical sciencesMethylation status of the APC and RASSF1A promoter in cell-free circulating DNA and its prognostic role in patients with colorectal cancer.
Oncology letters[Surgical aspects of indications and techniques for adenomatous polyposis variants].
Der Chirurg; Zeitschrift fur alle Gebiete der operativen MedizenABT-888 and quinacrine induced apoptosis in metastatic breast cancer stem cells by inhibiting base excision repair via adenomatous polyposis coli.
DNA repairLongitudinal molecular characterization of endoscopic specimens from colorectal lesions.
World journal of gastroenterologyPalmatine from Mahonia bealei attenuates gut tumorigenesis in ApcMin/+ mice via inhibition of inflammatory cytokines.
Molecular medicine reportsClinicopathological features of familial adenomatous polyposis in Korean patients.
World journal of gastroenterologyAssociações
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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.
- Hereditary Endometrial Cancer: Lynch Syndrome, Mismatch Repair Deficiency, and Emerging Genetic Predispositions-A Comprehensive Review with Clinical and Laboratory Guidelines.
- A Case of Polymerase Proofreading-Associated Polyposis: Challenges in Genetic Diagnosis.JGH open : an open access journal of gastroenterology and hepatology· 2025· PMID 40741356mais citado
- Exploration of different quantitative polymerase chain reaction-based genotyping methods to distinguish Apcmin/+ mice from wildtype mice.
- Case Report: Expansion of the POLD1-related polymerase proofreading-associated polyposis spectrum: first report of duodenal adenocarcinomas and characterization of two likely pathogenic variants.
- APC loss promotes endometrial cancer progression by upregulating FGF12 expression: A integrated multi-omics analysis.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:447877(Orphanet)
- MONDO:0018653(MONDO)
- GARD:17772(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Q56014183(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
