Search results for "RECTAL-CANCER"

showing 10 items of 33 documents

Molecular Basis of Mismatch Repair Protein Deficiency in Tumors from Lynch Suspected Cases with Negative Germline Test Results

2020

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0301 basic medicineCancer Researchcongenital hereditary and neonatal diseases and abnormalitiesCARCINOMADNA mismatch repair3122 Cancerscolorectal cancersuolistosyövätBiologyGene mutationMLH1DIAGNOSISlcsh:RC254-282Article03 medical and health sciencesdeep sequencing0302 clinical medicineGermline mutationFREQUENT CAUSEMANAGEMENTLynchin oireyhtymäneoplasmspaksusuolisyöpäMUTATIONSPoint mutationMLH1METHYLATIONnutritional and metabolic diseasesNONPOLYPOSIS COLORECTAL-CANCERDEFECTSdiagnostiikkalcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensdigestive system diseases3. Good healthDNA-metylaatioMSH2MSH6030104 developmental biologyLynch syndromeOncologyMSH3syöpägeenitMSH2030220 oncology & carcinogenesisCancer researchDNA mismatch repairsyöpätauditCancers
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Body Weight, Physical Activity, and Risk of Cancer in Lynch Syndrome

2021

Simple Summary Lifestyle modifies cancer risk in the general public. How lifestyle modifies cancer risk in individuals carrying the inherited pathogenic gene variants in DNA mismatch repair genes (Lynch syndrome) remains understudied. We conducted a retrospective study with cancer register data to investigate associations between body weight, physical activity, and cancer risk among Finnish Lynch syndrome carriers (n = 465, 54% women). The results of our study indicated that longitudinal weight gain increases cancer risk, whereas being highly physically active during adulthood could decrease cancer risk in men. Further, women were observed to be less prone to lifestyle-related risk factors …

elintavatperinnölliset tauditMENOPAUSElifestyleMUTATIONS3122 Cancershereditary non-polyposis colorectal cancerylipainoEXERCISEsuolistosyövätriskitekijätlcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogenslcsh:RC254-282ArticleCOLORECTAL-CANCERESTROGENADIPOSE-TISSUEMASS INDEXAGEDEFINED FAMILIAL RISKepidemiologyepidemiologiaLynchin oireyhtymäfyysinen aktiivisuusASSOCIATIONSCancers
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The shared frameshift mutation landscape of microsatellite-unstable cancers suggests immunoediting during tumor evolution

2020

The immune system can recognize and attack cancer cells, especially those with a high load of mutation-induced neoantigens. Such neoantigens are abundant in DNA mismatch repair (MMR)-deficient, microsatellite-unstable (MSI) cancers. MMR deficiency leads to insertion/deletion (indel) mutations at coding microsatellites (cMS) and to neoantigen-inducing translational frameshifts. Here, we develop a tool to quantify frameshift mutations in MSI colorectal and endometrial cancer. Our results show that frameshift mutation frequency is negatively correlated to the predicted immunogenicity of the resulting peptides, suggesting counterselection of cell clones with highly immunogenic frameshift peptid…

0301 basic medicineMutation rateGeneral Physics and Astronomymedicine.disease_causeCOLORECTAL-CANCER0302 clinical medicineINDEL MutationMutation RateimmunologiaHLA AntigensNeoplasmsFrameshift Mutationlcsh:ScienceImmunologic SurveillanceGeneticsMutationMultidisciplinaryMISMATCH REPAIR DEFICIENCYQPEPTIDES3. Good healthkohdunrungon syöpäsyöpäsolutimmuunivaste030220 oncology & carcinogenesisTumour immunologyMicrosatellite InstabilityDNA mismatch repairINDEL MutationEXPRESSIONcongenital hereditary and neonatal diseases and abnormalitieskasvaimetDATABASESciencegastrointestinal cancerINSTABILITY3122 CancerssuolistosyövätBiologycomplex mixturesArticleGeneral Biochemistry Genetics and Molecular BiologyFrameshift mutationGastrointestinal cancer03 medical and health sciencesAntigens NeoplasmCOLONmedicineHumansCELLSelection GeneticIndelSIGNATUREStumour immunologyMicrosatellite instabilityGeneral ChemistryDNAmedicine.disease3126 Surgery anesthesiology intensive care radiologydigestive system diseases030104 developmental biologyImmunoeditinglcsh:Qmutaatiotbeta 2-MicroglobulinMicrosatellite Repeats
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Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrom…

2019

Background Recent epidemiological evidence shows that colorectal cancer (CRC) continues to occur in carriers of pathogenic mismatch repair (path_MMR) variants despite frequent colonoscopy surveillance in expert centres. This observation conflicts with the paradigm that removal of all visible polyps should prevent the vast majority of CRC in path_MMR carriers, provided the screening interval is sufficiently short and colonoscopic practice is optimal. Methods To inform the debate, we examined, in the Prospective Lynch Syndrome Database (PLSD), whether the time since last colonoscopy was associated with the pathological stage at which CRC was diagnosed during prospective surveillance. Path_MMR…

0301 basic medicineCOLONOSCOPIC SURVEILLANCEColorectal cancerColonoscopy030105 genetics & hereditycomputer.software_genreFAMILIESCOLORECTAL-CANCERBreast cancer screening0302 clinical medicine610 Medical sciences MedicineEpidemiologytähystysStage (cooking)Hereditary nonpolyposis colorectal cancerMUTATIONGenetics (clinical)RISKSurveillanceDatabasemedicine.diagnostic_testIncidence (epidemiology)Colonoscopylcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensLynch syndrome3. Good healthOncology030220 oncology & carcinogenesisendoskopiaScreeningsyöpätauditkoloskopiamedicine.medical_specialtylcsh:QH426-4703122 Cancers610suolistosyövätmikrosatelliititlcsh:RC254-282Mismatch repair03 medical and health sciencesCàncer colorectalmedicineEndoscòpiaLynchin oireyhtymäperinnölliset tauditseulontatutkimusbusiness.industryResearchColonoscòpiaMicrosatellite instabilityEndoscopyDNAdiagnostiikkamedicine.diseaseColorectal cancerdigestive system diseasesHereditary cancerADENOMAlcsh:GeneticsLynch syndromeOver-diagnosisMicrosatellite instabilitytarkkailubusinesscomputer
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Fish and human health: an umbrella review of observational studies

2022

Fish represents one of the most important dietary sources of omega-3 polyunsaturated fatty acids, which are known to be associated with various health benefits. This study aimed to systematically review existing meta-analyses of observational studies exploring the association between fish intake and various health outcomes. A systematic search of electronic databases was conducted to retrieve a total of 63 studies. Evidence was deemed as possible for the association between higher fish intake and decreased risk of the acute coronary syndrome, liver cancer, and depression, and limited for other outcomes (including age-related macular degeneration, Alzheimer’s disease, heart failure, all-caus…

MEAT CONSUMPTIONmeta-analysiBrain IschemiaESOPHAGEAL CANCER-RISKCOLORECTAL-CANCERliver cancerCOGNITIVE IMPAIRMENT RISKScardiovascular diseaseFatty Acids Omega-3AnimalsHumanscoronary heart diseaseFish liver cancerSettore MED/49 - Scienze Tecniche Dietetiche ApplicatePUFA INTAKEnon-communicable diseasePOLYUNSATURATED FATTY-ACIDSomega-3 umbrella review.THYROID-CANCERumbrella reviewevidenceFatty AcidsFishesnon-communicable diseasesmortalityDietStrokemeta-analysisFishdepressionHEART-FAILUREDOSE-RESPONSE METAANALYSISomega-3DIETARY FACTORSFood ScienceInternational Journal of Food Sciences and Nutrition
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Prognostic Role of Mismatch Repair Status, Histotype and High-Risk Pathologic Features in Stage II Small Bowel Adenocarcinomas

2020

Abstract Background Small bowel adenocarcinoma is a relatively rare cancer, often diagnosed in an advanced stage. In localized and resectable disease, surgery alone or in combination with adjuvant chemotherapy is the mainstay of treatment. In the recently published National Comprehensive Cancer Network Clinical Practice guidelines, criteria for selecting patients with stage II small bowel adenocarcinoma to receive adjuvant chemotherapy are provided, and they are mainly extrapolated from studies on colorectal cancer. Patients and Methods In the present study, we aimed to verify whether mismatch repair deficiency phenotype, high-risk pathologic features (including T4, positive resection margi…

MaleOncologyColorectal cancerDNA Mismatch RepairCOLORECTAL-CANCERSettore MED/120302 clinical medicinePMS2small bowel adenocarcinomaMismatch Repair Endonuclease PMS20303 health sciencesPrognosisMMRMutS Homolog 2 ProteinOncologyCARCINOMAS030220 oncology & carcinogenesisimmunohistochemistryMismatch Repair Status small bowel adenocarcinomaFemaleMicrosatellite InstabilityDNA mismatch repairMutL Protein Homolog 1Colorectal Neoplasmsstage IImedicine.medical_specialtyhigh-risk pathologic featuresDNA Mismatch Repair; Female; Humans; Male; Microsatellite Instability; Mismatch Repair Endonuclease PMS2; MutL Protein Homolog 1; MutS Homolog 2 Protein; Prognosis; Adenocarcinoma; Colorectal Neoplasmssmall bowel adenocarcinoma; mismatch repair statusAdenocarcinomaNO03 medical and health sciencessmall bowel carcinomahistotypeInternal medicineTranslational ResearchmedicineHumansmismatch repair status030304 developmental biologysmall bowel adenocarcinomasbusiness.industryCancerMicrosatellite instabilityMismatch Repair ProteinAdenocarcinoma IBD Cancermedicine.diseasedigestive system diseasesMSH6COLORECTAL-CANCER; CARCINOMAS; CONSENSUSsmall bowel carcinoma MMR immunohistochemistryMismatch repair Small bowel AdenocarcinomaMSH2Mismatch repair status; stage II; small bowel adenocarcinomas; histotype; high-risk pathologic featuresSurgeryCONSENSUSbusiness
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Global surveillance of cancer survival 1995–2009: analysis of individual data for 25 676 887 patients from 279 population-based registries in 67 coun…

2015

Worldwide data for cancer survival are scarce. We aimed to initiate worldwide surveillance of cancer survival by central analysis of population-based registry data, as a metric of the eff ectiveness of health systems, and to inform global policy on cancer control. Methods Individual tumour records were submitted by 279 population-based cancer registries in 67 countries for 25·7 million adults (age 15–99 years) and 75 000 children (age 0–14 years) diagnosed with cancer during 1995–2009 and followed up to Dec 31, 2009, or later. We looked at cancers of the stomach, colon, rectum, liver, lung, breast (women), cervix, ovary, and prostate in adults, and adult and childhood leukaemia. Standardise…

Maleeurope 1999-2007PathologyCàncer -- EstadístiquesSurvival[SDV]Life Sciences [q-bio]2700 General MedicineGlobal HealthSettore MED/42 - Igiene Generale E ApplicataNeoplasms80 and overGlobal healthRegistriesStomach cancerChildcancer survivalBreast-cancerComputingMilieux_MISCELLANEOUScancer registry; cancer survival; worldwideCervical cancerAged 80 and overeducation.field_of_studychildhood-cancerMedicine (all)1. No povertyGeneral Medicinecancer survival; population-based registries; surveillanceMiddle Aged3. Good healthovarian-cancerChild Preschoolpopulation-based registriesurveillance/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemalenet survivalNeoplasms/mortalityBreast-cancer; childhood-cancer; rectal-cancer; nordic countries; europe 1999-2007; ovarian-cancer; net survival; data quality; care; stageAdultmedicine.medical_specialtyAdolescentPopulationSocio-culturale610 Medicine & healthAdolescent; Adult; Age Distribution; Aged; Aged 80 and over; Child; Child Preschool; Female; Global Health; Humans; Infant; Infant Newborn; Male; Middle Aged; Neoplasms; Registries; Sex Distribution; Survival Analysis; Young Adult; Medicine (all)Articlerectal-cancerYoung AdultBreast cancerAge DistributionSDG 3 - Good Health and Well-beingcancer survival; cancer registriesmedicinedata qualityHumanscareSex DistributionPreschooleducationSupervivèncianordic countriesSurvival analysisddc:613AgedCancer -- Statisticsbusiness.industryInfant NewbornCancerInfant10060 Epidemiology Biostatistics and Prevention Institute (EBPI)Newbornmedicine.diseasestageSurvival AnalysisCancer registrycancer registriesbusinessDemography
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Fruit and vegetable consumption and health outcomes: an umbrella review of observational studies

2019

The aim of this study was to provide a comprehensive evaluation of current evidence on fruit and vegetable consumption and health outcomes. A systematic search for quantitative syntheses was performed. Several criteria, including study design, dose-response relationship, heterogeneity and agreement of results over time, and identification of potential confounding factors, were used to assess the level of evidence. The strongest (probable) evidence was found for cardiovascular disease protection; possible evidence for decreased risk of colon cancer, depression and pancreatic diseases was found for fruit intake; and colon and rectal cancer, hip fracture, stroke, depression and pancreatic dise…

0301 basic medicineDatabases FactualColorectal cancerHealth BehaviorDiseasemeta-analysiCOLORECTAL-CANCER0302 clinical medicineRisk FactorsVegetablesMedicinevegetableSettore MED/49 - Scienze Tecniche Dietetiche ApplicateDepression (differential diagnoses)Randomized Controlled Trials as TopicMOLECULAR-MECHANISMSDepressionCOLON-CANCERConfoundingcohort study; evidence; Fruit; meta-analysis; umbrella review; vegetable; Food Sciencecohort study; evidence; Fruit; meta-analysis; umbrella review; vegetable; Cardiovascular Diseases; Colonic Neoplasms; Databases Factual; Depression; Diet Healthy; Health Behavior; Humans; Observational Studies as Topic; Pancreatic Diseases; Randomized Controlled Trials as Topic; Risk Factors; Fruit; VegetablesObservational Studies as TopicCardiovascular DiseasesMeta-analysisColonic NeoplasmsDiet HealthyCohort studyCANCER-RISKBLADDER-CANCER030209 endocrinology & metabolismDIETARY POLYPHENOLSDatabases03 medical and health sciencesLUNG-CANCEREnvironmental healthcohort studyHumansCORONARY-HEART-DISEASEFactualHealthy030109 nutrition & dieteticsumbrella reviewbusiness.industryevidencePancreatic DiseasesEvidence-based medicinemedicine.diseaseDietmeta-analysisFruitObservational studyDOSE-RESPONSE METAANALYSISbusinessGASTRIC-CANCERFood Science
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Descriptive study on subjective experience of genetic testing with respect to relationship, family planning and psychosocial wellbeing among women wi…

2021

AbstractBackgroundDue to increased risk of endometrial and ovarian cancer, women belonging to known Lynch Syndrome (LS) families are recommended to undergo germline testing. Current practice in Finland is to offer counselling to women with pathogenic variant and advocate risk-reducing surgery (RRS) after completion of childbirth. The present study aimed to clarify the impacts of positive germline testing on family planning and reproductive decisions of these women, which are relatively unknown.MethodsSeventy-nine carriers of germline MMR gene pathogenic variant (path_MMR)were identified from the Finnish LS Registry as having genetic testing performed before the age of 45 years and not havin…

medicine.medical_treatmentTestingQH426-470ihmissuhteetCOLORECTAL-CANCER0302 clinical medicinehenkinen hyvinvointi5. Gender equality3123 Gynaecology and paediatricsChildbirthGenetics (clinical)RC254-282media_common0303 health sciencesmedicine.diagnostic_test030305 genetics & heredityNeoplasms. Tumors. Oncology. Including cancer and carcinogensLynch syndrometesting3. Good healthOncologyhereditary cancerFamily planning030220 oncology & carcinogenesissyöpätauditPsychosocialClinical psychologymedia_common.quotation_subject3122 CancersFertilityMUTATION CARRIERSPsychosocial wellbeingtestaus03 medical and health sciencesCHILDBEARINGmedicineGeneticsFERTILITYLynchin oireyhtymäGenetic testingperinnölliset tauditbusiness.industryEndometrial cancerResearchOophorectomyENDOMETRIAL CANCERmedicine.diseaseHereditary cancerperhesuunnitteluLynch syndromerelationshipsRelationshipsbusinesspsychosocial wellbeing
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Epidemiological, clinical and molecular characterization of Lynch‐like syndrome: A population‐based study

2019

Colorectal carcinomas that are mismatch repair (MMR)‐deficient in the absence of MLH1 promoter methylation or germline mutations represent Lynch‐like syndrome (LLS). Double somatic events inactivating MMR genes are involved in the etiology of LLS tumors. Our purpose was to define the clinical and broader molecular hallmarks of LLS tumors and the population incidence of LLS, which remain poorly characterized. We investigated 762 consecutive colorectal carcinomas operated in Central Finland in 2000–2010. LLS cases were identified by a stepwise protocol based on MMR protein expression, MLH1 methylation and MMR gene mutation status. LLS tumors were profiled for CpG Island Methylator Phenotype (…

Cancer ResearchMICROSATELLITE INSTABILITYDNA mismatch repairMISMATCH-REPAIR DEFICIENCYGene mutationmedicine.disease_cause0302 clinical medicinelynch syndromeFinlandMolecular Epidemiologyeducation.field_of_studyMutationISLAND METHYLATOR PHENOTYPENONPOLYPOSIS COLORECTAL-CANCERlynch-like syndromeTUMORSLynch syndrome3. Good healthOncology030220 oncology & carcinogenesissyöpätauditColorectal NeoplasmsMutL Protein Homolog 1Lynch-like syndromeAdult3122 CancersPopulationsuolistosyövätCpG island methylator phenotypeBiologyta3111FREQUENCYMLH103 medical and health sciencesGermline mutationcolorectal carcinomaBRAF MUTATIONCOLONmedicineHumansLynchin oireyhtymäeducationneoplasmsMSIAgedRetrospective StudiesCpG Island Methylator PhenotypeMicrosatellite instabilityDNASOMATIC MUTATIONSta3122CpG Island Methylator phenotypemedicine.diseaseColorectal Neoplasms Hereditary Nonpolyposisdigestive system diseasesCOPY NUMBERMutationCancer researchInternational Journal of Cancer
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