Search results for " Connective tissue disease"

showing 10 items of 848 documents

Triple-negative breast lobular carcinoma: a luminal androgen receptor carcinoma with specific ESRRA mutations.

2021

Primary triple-negative invasive lobular breast carcinomas (TN-ILCs), which do not express hormone receptors and HER2 at diagnosis, are rare and poorly known. In this study, we analyzed the largest TN-ILC series ever reported in the literature, in comparison to phenotypically similar breast tumor subtypes: triple-negative invasive ductal carcinoma (TN-IDC) and hormone receptor-positive invasive lobular carcinoma (HR + ILC). All primary TN-ILCs registered in our database between 2000 and 2018 (n = 38) were compared to tumors from control groups, matched by stage and Elston/Ellis grade, with regard to clinical, pathologic, and immunohistochemical characteristics. A comparative molecular analy…

0301 basic medicineOncologyAdultmedicine.medical_specialtyPathologyReceptor ErbB-2Lobular carcinomaDNA Mutational AnalysisTriple Negative Breast NeoplasmsArticlePathology and Forensic Medicine03 medical and health sciencesBasal (phylogenetics)Phosphatidylinositol 3-Kinases0302 clinical medicineBreast cancerInternal medicinemedicineCarcinomaHumansskin and connective tissue diseasesSurvival analysisAgedAged 80 and overbusiness.industryMiddle Agedmedicine.diseaseAndrogen receptorbody regionsCarcinoma Lobular030104 developmental biologyPleomorphism (cytology)Receptors EstrogenReceptors Androgen030220 oncology & carcinogenesisInvasive lobular carcinomaMutationFemalebusinessModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
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Prognostic Factors of Survival among Women with Metastatic Breast Cancer and Impact of Primary or Secondary Nature of Disease on Survival: A French P…

2016

We aim to determine whether differences in survival exist between two populations of women with metastatic breast cancer (MBC) and to identify prognostic factors of survival after metastasis diagnosis. Data on women with MBC diagnosed between 2000 and 2011 were provided by the Cote d'Or Breast cancer registry. Survival rates and median overall survival (OS) after metastasis diagnosis were determined using the Kaplan–Meier method and prognostic factors were determined in a Cox proportional hazard model. Overall, 282 women with primary MBC and 340 with secondary MBC were included. A 2-year survival rate was significantly better in women with primary MBC (50.8% [95% CI: 47.8–53.8%] versus 44.5…

0301 basic medicineOncologyAdultmedicine.medical_specialtyPopulationBreast NeoplasmsDiseaseKaplan-Meier EstimateMetastasis03 medical and health sciences0302 clinical medicineBreast cancerInternal medicineEpidemiologyInternal MedicinemedicineHumansRegistriesskin and connective tissue diseaseseducationSurvival rateAgedProportional Hazards ModelsAged 80 and overeducation.field_of_studyProportional hazards modelbusiness.industryNeoplasms Second PrimaryMiddle Agedmedicine.diseasePrognosisMetastatic breast cancerSurvival Rate030104 developmental biologyOncology030220 oncology & carcinogenesisSurgeryFemaleFrancebusinessThe breast journal
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Loss of HER2 and decreased T-DM1 efficacy in HER2 positive advanced breast cancer treated with dual HER2 blockade: the SePHER Study

2020

AbstractBackgroundHER2-targeting agents have dramatically changed the therapeutic landscape of HER2+ advanced breast cancer (ABC). Within a short time frame, the rapid introduction of new therapeutics has led to the approval of pertuzumab combined with trastuzumab and a taxane in first-line, and trastuzumab emtansine (T-DM1) in second-line. Thereby, evidence of T-DM1 efficacy following trastuzumab/pertuzumab combination is limited, with data from some retrospective reports suggesting lower activity. The purpose of the present study is to investigate T-DM1 efficacy in pertuzumab-pretreated and pertuzumab naïve HER2 positive ABC patients. We also aimed to provide evidence on the exposure to d…

0301 basic medicineOncologyCancer ResearchReceptor ErbB-2ApoptosisAdo-Trastuzumab EmtansineSettore MED/06chemistry.chemical_compound0302 clinical medicineTrastuzumabAntineoplastic Combined Chemotherapy ProtocolsTumor Cells Culturedskin and connective tissue diseasesAged 80 and overMiddle Agedlcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensPrognosisGene Expression Regulation NeoplasticSurvival RateOncology030220 oncology & carcinogenesisFemalePertuzumabmedicine.drugT-DM1 efficacymusculoskeletal diseasesAdultmedicine.medical_specialtyHER2+ breast cancer; Trastuzumab/pertuzumab blockade; T-DM1 efficacyBreast NeoplasmsAntibodies Monoclonal Humanizedlcsh:RC254-28203 medical and health sciencesSettore MED/04 - PATOLOGIA GENERALEInternal medicinemedicineBiomarkers TumorHumansneoplasmsAgedCell ProliferationRetrospective StudiesHER2+ breast cancer; T-DM1 efficacy; Trastuzumab/pertuzumab blockadeTaxanebusiness.industryResearchCancerHER2+ breast cancerTrastuzumabmedicine.diseaseTrastuzumab/pertuzumab blockadeBlockadeLog-rank test030104 developmental biologychemistryTrastuzumab emtansineCancer cellbusiness
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HDAC5 Inhibitors as a Potential Treatment in Breast Cancer Affecting Very Young Women

2020

Background: Breast cancer in very young women (BCVY) defined as &lt

0301 basic medicineOncologyCancer Researchmedicine.medical_specialtyDose dependencelcsh:RC254-282ArticleLMK-23503 medical and health sciences0302 clinical medicineBreast cancerbreast cancerOlder patientsInternal medicinemedicineskin and connective tissue diseasesPathologicalHDAC5 inhibitorsHistone deacetylase 5young womenbusiness.industrylcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensmedicine.disease030104 developmental biologyOncologyApoptosisCell culture030220 oncology & carcinogenesishistone deacetylaseHistone deacetylasebusiness
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Abstract PD3-06: Neratinib + fulvestrant for HER2-mutant, HR-positive, metastatic breast cancer: Updated results from the phase 2 SUMMIT trial

2019

Abstract Background: HER2 mutations define a rare subset of metastatic breast cancer (MBC) with a unique mechanism of oncogenic addiction to HER2 signaling. Neratinib, an irreversible pan-HER tyrosine kinase inhibitor, has demonstrated single-agent clinical activity in HER2-mutant MBC. In HER2-mutant, HR+ MBC, neratinib + fulvestrant (N+F) appears synergistic vs single-agent neratinib, possibly due to more complete inhibition of bi-directional signaling between HER2 and estrogen receptors. Here we describe interim efficacy results of the expanded HER2-mutant, HR+ MBC cohort treated with N+F from SUMMIT (NCT01953926). Methods: HR+ MBC patients (pts) with HER2 mutations documented by local te…

0301 basic medicineOncologyCancer Researchmedicine.medical_specialtyFulvestrantmedicine.drug_classbusiness.industryEstrogen receptorCancermedicine.diseaseMetastatic breast cancerTyrosine-kinase inhibitor03 medical and health sciences030104 developmental biology0302 clinical medicineBreast cancerOncology030220 oncology & carcinogenesisInternal medicineNeratinibmedicineskin and connective tissue diseasesbusinessAdverse effectmedicine.drugCancer Research
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Outcomes of BRAF V600E Pediatric Gliomas Treated With Targeted BRAF Inhibition.

2020

PURPOSE Children with pediatric gliomas harboring a BRAF V600E mutation have poor outcomes with current chemoradiotherapy strategies. Our aim was to study the role of targeted BRAF inhibition in these tumors. PATIENTS AND METHODS We collected clinical, imaging, molecular, and outcome information from patients with BRAF V600E–mutated glioma treated with BRAF inhibition across 29 centers from multiple countries. RESULTS Sixty-seven patients were treated with BRAF inhibition (pediatric low-grade gliomas [PLGGs], n = 56; pediatric high-grade gliomas [PHGGs], n = 11) for up to 5.6 years. Objective responses were observed in 80% of PLGGs, compared with 28% observed with conventional chemotherapy …

0301 basic medicineOncologyCancer Researchmedicine.medical_specialtyHematologyendocrine system diseasesbusiness.industrydigestive system diseases3. Good healthBRAF V600E03 medical and health sciencesenzymes and coenzymes (carbohydrates)030104 developmental biology0302 clinical medicineOncology030220 oncology & carcinogenesisInternal medicineMutation (genetic algorithm)Original Reportsmedicinebusinessskin and connective tissue diseasesneoplasmsChemoradiotherapyJCO precision oncology
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Contribution of MUTYH variants to male breast cancer risk: results from a multicenter study in Italy

2018

Inherited mutations in BRCA1, and, mainly, BRCA2 genes are associated with increased risk of male breast cancer (MBC). Mutations in PALB2 and CHEK2 genes may also increase MBC risk. Overall, these genes are functionally linked to DNA repair pathways, highlighting the central role of genome maintenance in MBC genetic predisposition. MUTYH is a DNA repair gene whose biallelic germline variants cause MUTYH-associated polyposis (MAP) syndrome. Monoallelic MUTYH variants have been reported in families with both colorectal and breast cancer and there is some evidence on increased breast cancer risk in women with monoallelic variants. In this study, we aimed to investigate whether MUTYH germline v…

0301 basic medicineOncologyCancer Researchmedicine.medical_specialtyMUTYHBRCA1/2; MUTYH; MUTYH-associated polyposis (MAP) syndrome; NGS; breast cancer risk; genetic susceptibility; male breast cancerPALB2male breast cancerlcsh:RC254-28203 medical and health sciencesbreast cancer risk0302 clinical medicineBreast cancerMUTYHBRCA1/2Internal medicinemedicineGenetic predispositionskin and connective tissue diseasesCHEK2MUTYH-associated polyposis (MAP) syndromeOriginal Researchbusiness.industryCancermedicine.diseaselcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensPenetrancemale breast cancer; genetic susceptibility; BRCA1/2; MUTYH; NGS; MUTYH-associated polyposis (MAP) syndrome; breast cancer risk030104 developmental biologyOncology030220 oncology & carcinogenesisMale breast cancerNGSbusinessgenetic susceptibility
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Detection of Germline Mutations in a Cohort of 139 Patients with Bilateral Breast Cancer by Multi-Gene Panel Testing: Impact of Pathogenic Variants i…

2020

Simple Summary Many bilateral breast cancer patients with increased hereditary susceptibility to breast cancer result negative for BRCA1 or BRCA2 pathogenic variants and, thus, need a further genetic testing through a broader gene panel. Some patients with negative test result for BRCA1/2 pathogenic variants may harbor pathogenic variants in other breast cancer susceptibility genes, including ATM, CHEK2, PALB2, PTEN, TP53. Of course, the use of a multi-gene panel provides clinicians more information through a single test. Therefore, we focused on potential clinical impact of a NGS-based multi-gene panel testing in bilateral breast cancer patients, in order to evaluate the utility of perform…

0301 basic medicineOncologyCancer Researchmedicine.medical_specialtyPTENSettore MED/06 - Oncologia MedicaPALB2<i>CHECK2</i><i>PTEN</i>lcsh:RC254-282GermlineArticle03 medical and health sciencesCHECK20302 clinical medicineGermline mutationBreast cancerbreast cancerInternal medicinemedicinePTENCancer Familyskin and connective tissue diseasesbilateral breast cancerCHEK2germline pathogenic variantbiologybusiness.industry<i>ATM</i>lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensmedicine.diseaseBRCA1BRCA2<i>BRCA1</i>030104 developmental biologyOncology030220 oncology & carcinogenesisATMPALB2biology.proteinmulti-gene panel testingRAD51C<i>PALB2</i>germline pathogenic variantsbusiness<i>BRCA2</i>Cancers
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Abstract P1-19-08: Neratinib + trastuzumab + fulvestrant for HER2-mutant, hormone receptor-positive, metastatic breast cancer: Updated results from t…

2020

Abstract Background: HER2 mutations define a subset of metastatic breast cancers (MBCs) with a unique mechanism of oncogenic addiction to HER2 signaling. Neratinib, an irreversible pan-HER tyrosine kinase inhibitor, has been shown to have encouraging clinical activity when combined with fulvestrant in HER2-mutant, hormone receptor-positive (HR+) MBC [Smyth et al. SABCS 2018]. Genomic analyses suggest that acquired resistance to neratinib may occur by the acquisition of additional HER2 alterations, which may amplify HER2 pathway signaling [Won et al. AACR 2019]. We therefore explored whether dual HER2-targeted therapy may improve clinical benefit in this setting. Here we describe initial res…

0301 basic medicineOncologyCancer Researchmedicine.medical_specialtyPopulation03 medical and health sciences0302 clinical medicineBreast cancerTrastuzumabInternal medicinemedicineskin and connective tissue diseaseseducationeducation.field_of_studyFulvestrantbusiness.industryCancermedicine.diseaseMetastatic breast cancerRegimen030104 developmental biologyOncology030220 oncology & carcinogenesisNeratinibbusinessmedicine.drugCancer Research
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Brain Metastases in Breast Cancer Network Germany (BMBC, GBG 79): Treatment patterns and clinical outcome of more than 1000 patients with brain metas…

2016

2070Background: In order to improve knowledge about treatment and outcome of breast cancer patients with brain metastases (BM) we initiated the registry Brain Metastases in Breast Cancer Network Ge...

0301 basic medicineOncologyCancer Researchmedicine.medical_specialtybusiness.industrymedicine.diseaseOutcome (game theory)03 medical and health sciences030104 developmental biology0302 clinical medicineBreast cancerOncology030220 oncology & carcinogenesisInternal medicinemedicineskin and connective tissue diseasesbusinessJournal of Clinical Oncology
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