Search results for " somatic mutations"

showing 4 items of 4 documents

Recommendations for the implementation of BRCA testing in the care and treatment pathways of ovarian cancer patients

2016

In the last 20 years, following the identification of the BRCA1 and BRCA2 genes (hereinafter referred to as the BRCA genes), preventive pathways have been developed for the identification and clinical management of individuals at high risk of developing breast and ovarian cancer due to the presence of a pathogenic variant in either of these genes. These pathways are aimed at educating high-risk subjects on programs targeted toward early diagnosis and cancer risk reduction. The approval of a novel class of drugs, the PARP enzyme inhibitors, for the treatment of ovarian cancer patients carrying high-risk BRCA pathogenic variants has changed this scenario. BRCA testing, in addition to providin…

0301 basic medicineOncologyCancer ResearchGenes BRCA2Genes BRCA1Brca testingBRCA1; BRCA2; genetic testing; germline mutations; ovarian cancer; PARP inhibitors; somatic mutations; Oncology; Cancer ResearchSettore MED/03 - GENETICA MEDICA0302 clinical medicineClinical decision makingInformed consentsomatic mutationBRCA1 BRCA2 genetic testing germline mutations somatic mutations ovarian cancer PARP inibitorsDisease management (health)PARP inhibitorsOvarian NeoplasmsTumorInformed Consentmedicine.diagnostic_testDisease ManagementGeneral MedicinePrognosisBRCA1; BRCA2; genetic testing; germline mutations; ovarian cancer; PARP inhibitors; somatic mutations; Biomarkers Tumor; Clinical Decision-Making; Disease Management; Female; Genes BRCA1; Genetic Variation; Germ-Line Mutation; Humans; Informed Consent; Mutation; Ovarian Neoplasms; Prognosis; Genes BRCA2; Genetic Testing; Oncology; Cancer Researchovarian cancergermline mutationOncology030220 oncology & carcinogenesisgermline mutationsFemaleHumanmedicine.medical_specialtyPrognosiClinical Decision-MakingMEDLINEgenetic testing03 medical and health sciencesPARP inibitorsInternal medicinemedicineBiomarkers TumorHumansGerm-Line MutationGenetic testingGynecologyBRCA1; BRCA2; PARP inhibitors; genetic testing; germline mutations; ovarian cancer; somatic mutationsbusiness.industryOvarian NeoplasmGenetic Variationmedicine.diseaseBRCA1BRCA2030104 developmental biologyPARP inhibitorGenesMutationsomatic mutationsOvarian cancerbusinessBiomarkers
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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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A catalog of HLA type, HLA expression, and neo-epitope candidates in human cancer cell lines

2014

Cancer cell lines are a tremendous resource for cancer biology and therapy development. These multipurpose tools are commonly used to examine the genetic origin of cancers, to identify potential novel tumor targets, such as tumor antigens for vaccine devel-opment, and utilized to screen potential therapies in preclinical studies. Mutations, gene expression, and drug sensitivity have been determined for many cell lines using next-generation sequencing (NGS). However, the human leukocyte antigen (HLA) type and HLA expression of tumor cell lines, characterizations necessary for the development of cancer vaccines, have remained largely incomplete and, such information, when available, has been …

HLA typeCCLE Cancer Cell Line Encyclopediamedicine.medical_treatmentCOSMIC Catalog of Somatic Mutations in CancerImmunologyBRENDA BRaunschweig ENzyme DatabaseSNV single nucleotide variationRNA-SeqHuman leukocyte antigenBiologynsSNV non synonymous SNVTranscriptomeLoss of heterozygosityAntigenGenotypemedicineImmunology and AllergyRNA-SeqRNA-Seq RNA SequencingOriginal ResearchGeneticsHLA expressionneoepitopescancer cell linesSRA Sequence Read ArchiveCancerImmunotherapymedicine.diseaseHLA Human Leukocyte AntigenOncologyRPKM reads per kilobase of exon model per million mapped readsIEDB Immune Epitope Databasesomatic mutationsimmunotherapyDLBCL diffuse large B-cell lymphomaNGS Next Generation SequencingOncoImmunology
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Targeted next generation sequencing of breast implant-associated anaplastic large cell lymphoma reveals mutations in JAK/STAT signalling pathway gene…

2016

Oncologymedicine.medical_specialtysocs1030230 surgerymedicine.disease_causestat303 medical and health sciencesDNMT3A; SOCS1; STAT3; TP53; breast implant-associated anaplastic large-cell lymphoma; somatic mutations0302 clinical medicineInternal medicinemedicineAnaplastic lymphoma kinasebreast implant-associated anaplastic large-cell lymphomaSTAT3Anaplastic large-cell lymphomaMutationbiologySuppressor of cytokine signaling 1hematologyLarge cellJAK-STAT signaling pathwaybreast implantâ associated anaplastic large-cell lymphomatp53medicine.diseaseLymphomabreast implant-associated anaplastic large-cell lymphoma; dnmt3a; socs1; somatic mutations; stat3; tp53; hematology030220 oncology & carcinogenesisdnmt3aCancer researchbiology.proteinsomatic mutationsbreast implant–associated anaplastic large-cell lymphoma; DNMT3A; SOCS1; somatic mutations; STAT3; TP53; Hematology
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