Search results for "DOC"

showing 10 items of 14105 documents

Prevalence and Spectrum of Germline BRCA1 and BRCA2 Variants of Uncertain Significance in Breast/Ovarian Cancer: Mysterious Signals From the Genome

2021

About 10–20% of breast/ovarian (BC/OC) cancer patients undergoing germline BRCA1/2 genetic testing have been shown to harbor Variants of Uncertain Significance (VUSs). Since little is known about the prevalence of germline BRCA1/2 VUS in Southern Italy, our study aimed at describing the spectrum of these variants detected in BC/OC patients in order to improve the identification of potentially high-risk BRCA variants helpful in patient clinical management. Eight hundred and seventy-four BC or OC patients, enrolled from October 2016 to December 2020 at the “Sicilian Regional Center for the Prevention, Diagnosis and Treatment of Rare and Heredo-Familial Tumors” of University Hospital Policlini…

0301 basic medicineOncologyCancer Researchmedicine.medical_specialtyendocrine system diseasesGenomeGermlinegenetic testing03 medical and health sciencesbreast cancer0302 clinical medicineBreast cancerInternal medicinemedicineClinical significanceskin and connective tissue diseasesRC254-282Original ResearchGenetic testingAnamnesismedicine.diagnostic_testbusiness.industryNeoplasms. Tumors. Oncology. Including cancer and carcinogensCancerBRCA1medicine.diseaseBRCA2ovarian cancer030104 developmental biologyOncology030220 oncology & carcinogenesisvariants of uncertain significance (VUS)Ovarian cancerbusinessFrontiers in Oncology
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Recurrent Mutations in BRCA1, BRCA2, RAD51C, PALB2 and CHEK2 in Polish Patients with Ovarian Cancer

2021

The aim of the study was to analyze the frequency and magnitude of association of 21 recurrent founder germline mutations in BRCA1, BRCA2, PALB2, RAD51C, and CHEK2 genes with ovarian cancer risk among unselected patients in Poland. We genotyped 21 recurrent germline mutations in BRCA1 (9 mutations), BRCA2 (4 mutations), RAD51C (3 mutations), PALB2 (2 mutations), and CHEK2 (3 mutations) among 2270 Polish ovarian cancer patients and 1743 healthy controls, and assessed the odds ratios (OR) for developing ovarian cancer for each gene. Mutations were detected in 369 out of 2095 (17.6%) unselected ovarian cancer cases and 117 out of 1743 (6.7%) unaffected controls. The ovarian cancer risk was ass…

0301 basic medicineOncologyCancer Researchmedicine.medical_specialtyendocrine system diseasesovarian cancer; recurrent mutations; BRCA1; BRCA2; RAD51C; PALB2; CHEK2; cancer riskPALB2<i>CHEK2</i>cancer riskBrca1 brca2lcsh:RC254-282Article03 medical and health sciences0302 clinical medicineGermline mutationInternal medicinemedicineskin and connective tissue diseasesCHEK2GeneCHEK2RAD51Cbusiness.industryOdds ratiomedicine.diseaseBRCA1lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensBRCA2female genital diseases and pregnancy complications<i>BRCA1</i>030104 developmental biologyovarian cancerOncology030220 oncology & carcinogenesisPALB2recurrent mutationsRAD51C<i>PALB2</i>Ovarian cancerbusiness<i>RAD51C</i><i>BRCA2</i>Cancers
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Postmastectomy Radiation Therapy in Women with T1-T2 Tumors and 1 to 3 Positive Lymph Nodes: Analysis of the Breast International Group 02-98 Trial.

2017

Purpose To analyze the impact of postmastectomy radiation therapy (PMRT) for patients with T1-T2 tumors and 1 to 3 positive lymph nodes enrolled on the Breast International Group (BIG) 02-98 trial. Methods and Materials The BIG 02-98 trial randomized patients to receive adjuvant anthracycline with or without taxane chemotherapy. Delivery of PMRT was nonrandomized and performed according to institutional preferences. The present analysis was performed on participants with T1-T2 breast cancer and 1 to 3 positive lymph nodes who had undergone mastectomy and axillary nodal dissection. The primary objective of the present study was to examine the effect of PMRT on risk of locoregional recurrence…

0301 basic medicineOncologyCancer Researchmedicine.medical_treatmentDocetaxelMastectomy Segmentallaw.invention0302 clinical medicineRandomized controlled triallawAntineoplastic Combined Chemotherapy ProtocolsAnthracyclinesMastectomyRadiationHazard ratioCarcinoma Ductal BreastMiddle Agedmedicine.anatomical_structureEditorialOncologyDocetaxelChemotherapy Adjuvant030220 oncology & carcinogenesisFemaleMastectomymedicine.drugAdultmedicine.medical_specialtyAntineoplastic AgentsBreast Neoplasms03 medical and health sciencesYoung AdultBreast cancerInternal medicinemedicineConfidence IntervalsHumansRadiology Nuclear Medicine and imagingCyclophosphamideAgedNeoplasm StagingPostoperative Carebusiness.industryCancermedicine.diseaseClinical trialAxilla030104 developmental biologyDoxorubicinAxillaLymph Node ExcisionLymph NodesbusinessInternational journal of radiation oncology, biology, physics
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Does chemotherapy improve survival in patients with nodal positive luminal A breast cancer? A retrospective Multicenter Study.

2019

BackgroundIn this study based on the BRENDA data, we investigated the impact of endocrine ± chemotherapy for luminal A, nodal positive breast cancer on recurrence free (RFS) and overall survival (OS). In addition, we analysed if tumor size of luminal A breast cancer influences survival in patients with the same number of positive lymph nodes.MethodsIn this retrospective multi-centre cohort study data of 1376 nodal-positive patients with primary diagnosis of luminal A breast cancer during 2001-2008 were analysed. The results were stratified by therapy and adjusted by age, tumor size and number of affected lymph nodes.ResultsIn our study population, patients had a good to excellent prognosis …

0301 basic medicineOncologyDose-dense chemotherapyAdjuvant Chemotherapymedicine.medical_treatmentCancer Treatment0302 clinical medicineBreast TumorsMedicine and Health SciencesEndocrine TumorsMultidisciplinaryPharmaceuticsQREndocrine TherapyMiddle AgedPrognosisSurvival RateOncologyDocetaxelChemotherapy AdjuvantLymphatic Metastasis030220 oncology & carcinogenesisMedicineFemaleLymphAnatomyResearch Articlemedicine.drugClinical Oncologymedicine.medical_specialtyScienceBreast NeoplasmsDisease-Free SurvivalLymphatic SystemCancer Chemotherapy03 medical and health sciencesBreast cancerDrug TherapyDiagnostic MedicineInternal medicineBreast CancermedicineHumansChemotherapyEndocrine systemSurvival rateAgedRetrospective StudiesChemotherapybusiness.industryBiology and Life SciencesCancers and NeoplasmsRetrospective cohort studymedicine.disease030104 developmental biologyLymph NodesClinical MedicinebusinessPLoS ONE
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The Clinical Efficacy of Radium-223 for Bone Metastasis in Patients with Castration-Resistant Prostate Cancer: An Italian Clinical Experience.

2017

&lt;b&gt;&lt;i&gt;Background/Aim:&lt;/i&gt;&lt;/b&gt; Prostate cancer frequently causes bone metastases and skeletal events that impair quality of life (QoL) and survival. The alpha emitter radium-223 is a new drug that improves treatment in men with castration-resistant prostate cancer (CRPC) and bone metastases. Our aim was to evaluate the effectiveness of radium-223. &lt;b&gt;&lt;i&gt;Subjects and Methods:&lt;/i&gt;&lt;/b&gt; In this retrospective study we enrolled 48 subjects. Pain reduction, alkaline phosphatase (ALP), time to first symptomatic skeletal event, and QoL were the variables we evaluated. &lt;b&gt;&lt;i&gt;Results:&lt;/i&gt;&lt;/b&gt; Radium-223 was well tolerated, with a m…

0301 basic medicineOncologyDrugRadium-223MaleCancer Researchmedicine.medical_specialtymedia_common.quotation_subjectAntineoplastic AgentsBone NeoplasmsDocetaxel03 medical and health sciencesProstate cancer0302 clinical medicineQuality of lifeInternal medicinemedicineHumansmedia_commonAgedRetrospective StudiesAged 80 and overRadioisotopesbusiness.industryBone metastasisRetrospective cohort studyGeneral MedicineMiddle Agedmedicine.diseaseProstatic Neoplasms Castration-Resistant030104 developmental biologyOncologyDocetaxelItaly030220 oncology & carcinogenesisQuality of LifeAlkaline phosphatasePrednisoneTaxoidsRadium-223 Bone metastasis Prostate cancer Radiopharmaceuticals Metastatic castration-resistant prostate cancer Quality of Lifebusinessmedicine.drugRadiumOncology
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Recommendations for the implementation of BRCA testing in ovarian cancer patients and their relatives

2019

The current availability of new Poly(ADP-ribose) Polymerase (PARP)-inhibitors for the treatment of ovarian cancer patients independently of the presence of a BRCA pathogenic variant, together with the validation of somatic test for the analysis of BRCA1/2 genes, involves the need to optimise the guidelines for BRCA testing. The AIOM-SIGU-SIBIOC-SIAPEC-IAP Italian Scientific Societies, in this position paper, recommend the implementation of BRCA testing with 2 main objectives: the first is the identification of ovarian cancer patients with higher probability of benefit from specific anticancer treatments (test for response to therapy); the second goal, through BRCA testing in the family memb…

0301 basic medicineOncologyGenetic testingendocrine system diseasesSettore MED/03 - GENETICA MEDICAMedical OncologyBiochemistrychemistry.chemical_compound0302 clinical medicineGermline mutationPARP inhibitorsTrabectedinSocieties MedicalOvarian Neoplasmsmedicine.diagnostic_testBRCA1 ProteinHematologyfemale genital diseases and pregnancy complicationsOncologyItaly030220 oncology & carcinogenesisFemalemedicine.drugHumanmedicine.medical_specialtyGenetic counselingOlaparib03 medical and health sciencesGeneticSomatic mutationsOvarian cancerMedicalInternal medicineBRCA1; BRCA2; Genetic testing; Germline mutations; Ovarian cancer; PARP inhibitors; Somatic mutations; BRCA1 Protein; BRCA2 Protein; Biochemistry; Female; Genetic Testing; Genetics; Humans; Italy; Medical Oncology; Ovarian Neoplasms; Germ-Line Mutation; Societies MedicalGeneticsmedicineGenetic predispositionHumansRucaparibGermline mutationsGerm-Line MutationGenetic testingBRCA2 Proteinbusiness.industrySomatic mutationOvarian NeoplasmCancermedicine.diseaseBRCA1BRCA2BRCA1; BRCA2; Genetic testing; Germline mutations; Ovarian cancer; PARP inhibitors; Somatic mutations030104 developmental biologyPARP inhibitorchemistrySocietiesOvarian cancerbusiness
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Anti-angiogenic drugs for second-line treatment of NSCLC patients: just new pawns on the chessboard?

2016

Tumor angiogenesis is one of the main pathways targeted to treat cancer. Bevacizumab added survival benefit when combined with platinum-based chemotherapy in NSCLC. Recently, Phase III trials showed survival benefit when anti-angiogenic drugs are added to docetaxel as second-line treatment for NSCLC. These anti-angiogenic agents include nintedanib and ramucirumab, a tyrosine-kinase inhibitor and a monoclonal antibody, respectively, which target receptors involved in angiogenesis. These studies have some similarities and differences. We propose a new algorithm for treatment sequences in performance status 0-1 patients with non-oncogene-addicted NSCLC type adenocarcinoma. Indeed clearer scien…

0301 basic medicineOncologyIndolesLung NeoplasmsAngiogenesisInvestigationalangiogenesis; docetaxel; nintedanib; NSCLC; ramucirumab; Angiogenesis Inhibitors; Antibodies; Monoclonal; Carcinoma; Non-Small-Cell Lung; Chemotherapy; Adjuvant; Humans; Indoles; Lung Neoplasms; Neovascularization; Pathologic; Practice Guidelines as Topic; Protein Kinase Inhibitors; Taxoids; Therapies; Investigational; Pharmacology; Drug Discovery3003 Pharmaceutical Science; Clinical BiochemistryClinical BiochemistryAngiogenesis InhibitorsNSCLCangiogenesischemistry.chemical_compound0302 clinical medicineCarcinoma Non-Small-Cell LungMonoclonalDrug DiscoverynintedanibdocetaxelNon-Small-Cell LungAdjuvantNeovascularization PathologicTherapies InvestigationalAntibodies MonoclonalDocetaxelChemotherapy Adjuvant030220 oncology & carcinogenesisPractice Guidelines as TopicAdenocarcinomaTaxoidsNintedanibAngiogenesis InhibitorHumanmedicine.drugmedicine.medical_specialtyBevacizumabramucirumabProtein Kinase InhibitorAntibodies Monoclonal HumanizedAntibodiesRamucirumab03 medical and health sciencesTaxoidInternal medicinemedicineChemotherapyHumansProtein Kinase InhibitorsNeovascularizationPathologicPharmacologyPerformance statusbusiness.industryDrug Discovery3003 Pharmaceutical ScienceCarcinomaangiogenesiCancermedicine.diseaseLung Neoplasm030104 developmental biologychemistryIndoleTherapiesangiogenesis; docetaxel; nintedanib; NSCLC; ramucirumab; Angiogenesis Inhibitors; Antibodies Monoclonal; Carcinoma Non-Small-Cell Lung; Chemotherapy Adjuvant; Humans; Indoles; Lung Neoplasms; Neovascularization Pathologic; Practice Guidelines as Topic; Protein Kinase Inhibitors; Taxoids; Therapies Investigational; Pharmacology; Drug Discovery3003 Pharmaceutical Science; Clinical BiochemistrybusinessExpert Opinion on Biological Therapy
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Efficacy and Safety of the Oral Multikinase Regorafenib in Metastatic Colorectal Cancer.

2017

&lt;b&gt;&lt;i&gt;Background/Aim:&lt;/i&gt;&lt;/b&gt; A clinical trial demonstrated that treatment with oral multikinase regorafenib improved overall survival (OS), progression-free survival (PFS), and disease control [García-Alfonso et al.: J Clin Transl Oncol 2016;18:1072-1081; Bertocchi et al.: J Chemother 2017;29:102-105]. In this study, we aimed to evaluate its effectiveness in Italian patients with hormone-refractory metastatic castration-resistant prostate cancer (mCRPC) progressing after chemotherapy with docetaxel plus prednisone. &lt;b&gt;&lt;i&gt;Materials and Methods:&lt;/i&gt;&lt;/b&gt; 60 patients were enrolled. OS has been assessed as the primary endpoint while PFS, quality o…

0301 basic medicineOncologyMaleCancer ResearchColorectal cancerPyridinesmedicine.medical_treatmentDocetaxelKaplan-Meier Estimatechemistry.chemical_compound0302 clinical medicineQuality of lifeAntineoplastic Combined Chemotherapy ProtocolsMedicineRegorafenibAged 80 and overMetastatic colorectal cancerGeneral MedicineMiddle AgedProstatic Neoplasms Castration-ResistantTreatment OutcomeOncology030220 oncology & carcinogenesisAdenocarcinomaFemaleTaxoidsColorectal NeoplasmsAdultmedicine.medical_specialtyAntineoplastic AgentsAdenocarcinomaDisease-Free Survival03 medical and health sciencesRegorafenibInternal medicineOverall survivalChemotherapyHumansAgedRetrospective StudiesChemotherapybusiness.industryPhenylurea Compoundsmedicine.diseaseClinical trial030104 developmental biologychemistryQuality of LifePrednisonebusinessOncology
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Treatment with abiraterone in metastatic castration-resistant prostate cancer patients progressing after docetaxel: a retrospective study.

2017

The aim of this study was to evaluate abiraterone's efficacy in Italian patients affected with metastatic prostate cancer progressing after treatment with docetaxel. We conducted a retrospective analysis of 60 patients. Prostate-specific antigen (PSA) reduction in serum was the primary endpoint for evaluating the efficacy of abiraterone in combination with prednisone treatment, whereas reduced pain, safety, progression-free survival, response rate, and overall survival (OS) were secondary endpoints. A significant correlation was noticed between PSA response and OS. Further, the Index Bravais-Pearson (r) correlation allowed us to observe a significant negative interdependence between PSA res…

0301 basic medicineOncologyMalemedicine.medical_specialtyCancer ResearchDocetaxelprostatic neoplasm03 medical and health sciencesProstate cancer0302 clinical medicinePrednisoneInternal medicineabirateroneAntineoplastic Combined Chemotherapy ProtocolsmedicineClinical endpointHumansPharmacology (medical)Neoplasm MetastasisSurvival rateAgedRetrospective StudiesPharmacologyAged 80 and overbusiness.industryandrogen antagonistRetrospective cohort studyMiddle AgedProstate-Specific Antigenmedicine.diseasedrug therapyProstate-specific antigenProstatic Neoplasms Castration-Resistant030104 developmental biologyDocetaxelTolerabilitymetastatic castration-resistant prostate cancerOncology030220 oncology & carcinogenesisPrednisoneAndrostenesKallikreinsTaxoidsbusinessmedicine.drugAnti-cancer drugs
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Polymorphism of the Transcription Factor 7-Like 2 Gene (TCF7L2) Interacts with Obesity on Type-2 Diabetes in the PREDIMED Study Emphasizing the Heter…

2016

Nutrigenetic studies analyzing gene-diet interactions of the TCF7L2-rs7903146 C > T polymorphism on type-2 diabetes (T2D) have shown controversial results. A reason contributing to this may be the additional modulation by obesity. Moreover, TCF7L2-rs7903146 is one of the most influential variants in T2D-genetic risk scores (GRS). Therefore, to increase the predictive value (PV) of GRS it is necessary to first see whether the included polymorphisms have heterogeneous effects. We comprehensively investigated gene-obesity interactions between the TCF7L2-rs7903146 C > T polymorphism on T2D (prevalence and incidence) and analyzed other T2D-polymorphisms in a sub-sample. We studied 7018 PREDIMED …

0301 basic medicineOncologyMaleobesityendocrine system diseasesType 2 diabetestype-2 diabetesTranscription Factor 7-Like 2Dieta mediterrània0302 clinical medicineNutrigenomicsRisk FactorsPrevalenceTCF7L2-predictive valueDiseaseLongitudinal StudiesProspective StudiesGenetic riskGeneticsAged 80 and overINSULIN-RESISTANCEBioquímica y tecnologíaNutrition and DieteticsDiabetisIncidenceMiddle AgedTraitsMEDITERRANEAN DIETBiochemistry and technologyObesitatTRIALFemalelcsh:Nutrition. Foods and food supplyTranscription Factor 7-Like 2 ProteinAdultGenetic Markersmedicine.medical_specialtyendocrine systemPopulationBODY-FATlcsh:TX341-641030209 endocrinology & metabolismMASSBioquímica i biotecnologiaArticleAssociation03 medical and health sciencesGenetic HeterogeneityPredictive Value of TestsInternal medicineDiabetes mellitusmedicineHumansGenetic Predisposition to DiseaseGeneAgedPolymorphism Geneticbusiness.industryCommon variantsPreventionnutritional and metabolic diseasesGenetic VariationPREDIMED studymedicine.disease2072-6643WeightPredimedObesityTCF7L2TCF7L2; type-2 diabetes; obesity; T2D-genetic risk scores; TCF7L2-predictive value; PREDIMED study030104 developmental biologyDiabetes Mellitus Type 2Susceptibility locibusinessTCF7L2T2D-genetic risk scoresFood Science
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