0000000000932068

AUTHOR

Francesca Fenizia

showing 2 related works from this author

Heterogeneity of KRAS, NRAS, BRAF and PIK3CA mutations in metastatic colorectal cancer and potential effects on therapy in the CAPRI GOIM trial

2015

Background: Evidence suggests that metastatic colorectal carcinoma (mCRC) has a high level of intratumor heterogeneity. We carried out a quantitative assessment of tumor heterogeneity for KRAS, NRAS, BRAF and PIK3CA mutations, in order to assess potential clinical implications. Patients and methods: Tumor samples (n = 182) from the CAPRI-GOIM trial of first-line cetuximab + FOLFIRI in KRAS exon-2 wild-type mCRC patients were assessed by next-generation sequencing that allows quantitative assessment of mutant genes. Mutant allelic frequency was normalized for the neoplastic cell content and, assuming that somatic mutations usually affect one allele, the Heterogeneity Score (HS) was calculate…

OncologyNeuroblastoma RAS viral oncogene homologOrganoplatinum CompoundsColorectal cancerSettore MED/06 - Oncologia MedicaLeucovorinCetuximabCetuximab; Colorectal cancer; Mutations; Next-generation sequencing; Tumor heterogeneity; Antineoplastic Combined Chemotherapy Protocols; Camptothecin; Carcinoma; Cetuximab; Class I Phosphatidylinositol 3-Kinases; Colorectal Neoplasms; Drug Resistance Neoplasm; Fluorouracil; GTP Phosphohydrolases; Gene Frequency; High-Throughput Nucleotide Sequencing; Humans; Leucovorin; Membrane Proteins; Mutation; Organoplatinum Compounds; Phosphatidylinositol 3-Kinases; Proto-Oncogene Proteins B-raf; Proto-Oncogene Proteins p21(ras); Treatment Outcome; Hematology; OncologyColorectal Neoplasmmedicine.disease_causeGTP PhosphohydrolasesGTP PhosphohydrolasePhosphatidylinositol 3-KinasesGene FrequencyAntineoplastic Combined Chemotherapy ProtocolsMembrane ProteinClass I Phosphatidylinositol 3-KinasecolorectalCetuximabHigh-Throughput Nucleotide SequencingHematologyTreatment OutcomeOncologyFOLFIRIKRASFluorouracilColorectal Neoplasmsmedicine.drugHumanProto-Oncogene Proteins B-rafmedicine.medical_specialtyTumor heterogeneityClass I Phosphatidylinositol 3-KinasesProto-Oncogene Proteins p21(ras)Internal medicinemedicinecancerHumansneoplasmsAllele frequencyAntineoplastic Combined Chemotherapy ProtocolSettore MED/08 - ANATOMIA PATOLOGICAbusiness.industryCarcinomaOrganoplatinum CompoundMembrane ProteinsCancermedicine.diseaseColorectal cancerdigestive system diseasesDrug Resistance NeoplasmMutationCancer researchNext-generation sequencingNeoplastic cellCamptothecinPhosphatidylinositol 3-Kinasebusiness
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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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