0000000001042697

AUTHOR

Isaacs

showing 2 related works from this author

Pan-cancer analysis of whole genomes

2020

Publisher's version (útgefin grein)

Maletert promoter mutationsCancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2]DNA Mutational AnalysisNormal tissuesystematic analysisGermlineTranscriptome0302 clinical medicineAetiologyCàncerCellular SenescenceCancer0303 health sciencesdna-damageMassive parallel sequencingPan cancerREARRANGEMENTSHigh-Throughput Nucleotide SequencingGenomicsSciences bio-médicales et agricolesTelomereCOMPREHENSIVE3. Good healthTERT PROMOTER MUTATIONSsignatures030220 oncology & carcinogenesisScience & Technology - Other TopicsErfðarannsóknirHuman:Informàtica::Aplicacions de la informàtica::Bioinformàtica [Àrees temàtiques de la UPC]EvolutionRNA SplicingGenomicsArticleEvolution MolecularStructural variationRC025403 medical and health sciencesSDG 3 - Good Health and Well-beingGeneticgenomicsSYSTEMATIC ANALYSISGeneticsGenomics--Databases.HumansGenetic TestingMolecular BiologySIGNATURESWhole genome sequencing1000 MultidisciplinaryChromothripsisScience & TechnologyRC0254 Neoplasms. Tumors. Oncology (including Cancer)Information DisseminationResearchInstitutes_Networks_Beacons/mcrcPreventionBiology and Life SciencesMolecularOncogenesCloud Computingmedicine.diseaseGenòmicaCompute cloudsMutation570 Life sciences; biologyCOMPREHENSIVE CHARACTERIZATIONGenèticaWhole Genome Sequencing--methodsBackground informationDNA Mutational Analysis ; Evolution ; Genetic / genetics ; Genome ; Genomics ; Germ-Line Mutation / genetics ; High-Throughput Nucleotide Sequencing ; Human / genetics ; Humans ; ICGC/TCGA Pan-Cancer Analysis of Whole Genomes ConsortiumMedizinGenomeWhole-genomeGenome mappingNeoplasms2.1 Biological and endogenous factorsPromoter Regions GeneticCàncer -- Aspectes genèticsTelomeraseGeneticsWomen's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17]MultidisciplinaryChromothripsisGenomeManchester Cancer Research Centregenomics cancer profiling3rd-DAS10124 Institute of Molecular Life SciencesWomen's cancers Radboud Institute for Health Sciences [Radboudumc 17]Multidisciplinary SciencesParallel sequencingICGC/TCGA Pan-Cancer Analysis of Whole Genomes ConsortiumFemaleprofilingMedical GeneticsEngineering sciences. TechnologyBiotechnologyGeneral Science & TechnologyThe Cancer Genome Atlas610 Medicine & healthComputational biologyQH426 GeneticsBiologyConsortium of the International Cancer Genome ConsortiumPromoter RegionsGermline mutationPan-cancer analysisKrabbameinsrannsóknirmedicinecancerddc:610QH426Germ-Line MutationMedicinsk genetikKrabbamein030304 developmental biologyCell ProliferationLANDSCAPEGenome Humancomprehensive characterizationPan-cancer analysis of whole genomesPoint mutationHuman GenomeCancerReproducibility of ResultsSOMATIC MUTATIONSEVOLUTIONCancer sequencing Chromothripsis telomereDNA-DAMAGEMutagenesisPATTERNS3111 BiomedicineCHARACTERIZATION
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Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

2016

Background BRCA1 and, more commonly, BRCA2 mutations are associated with increased risk of male breast cancer (MBC). However, only a paucity of data exists on the pathology of breast cancers (BCs) in men with BRCA1/2 mutations. Using the largest available dataset, we determined whether MBCs arising in BRCA1/2 mutation carriers display specific pathologic features and whether these features differ from those of BRCA1/2 female BCs (FBCs). Methods We characterised the pathologic features of 419 BRCA1/2 MBCs and, using logistic regression analysis, contrasted those with data from 9675 BRCA1/2 FBCs and with population-based data from 6351 MBCs in the Surveillance, Epidemiology, and End Results (…

Male0301 basic medicineGenotype-phenotype correlationPathologygenotype-phenotype correlationsendocrine system diseasesSettore MED/06 - Oncologia MedicaFEATURESmale breast cancerGenotype-phenotype correlationsLogistic regressionHistologic grade610 Medical sciences MedicineBreast cancer0302 clinical medicineEpidemiologyMedicine and Health SciencesPathologypolycyclic compoundsskin and connective tissue diseasesPOPULATIONRISKeducation.field_of_studyBRCA1 ProteinMenSingle NucleotideMiddle Aged3. Good healthGRADE030220 oncology & carcinogenesisMale breast canceroncologyFemaleBreast NeoplasmResearch ArticleHumanAdultmedicine.medical_specialtyCARCINOMAGenotype–phenotype correlations3122 CancersPopulation610Breast NeoplasmsBRCA1/2; genotype-phenotype correlations; histologic grade; male breast cancer; pathology; cancer research; oncologyMale breast cancer BRCA1 BRCA2Polymorphism Single NucleotideCàncer de mamaBreast Neoplasms Male03 medical and health sciencesBreast cancerSDG 3 - Good Health and Well-beingBRCA1/2Journal ArticleCarcinomamedicineHumansGenetic Predisposition to DiseasePolymorphismeducationAgedNeoplasm StagingBRCA2 Proteinbusiness.industryOdds ratiohistologic grademedicine.diseaseConfidence intervalMale breast cancer030104 developmental biologyddc:161HomesMutationcancer researchpathologyBRCA1/2; Genotype-phenotype correlations; Histologic grade; Male breast cancer; Pathology; Adult; Aged; BRCA1 Protein; BRCA2 Protein; Breast Neoplasms; Breast Neoplasms Male; Female; Genetic Predisposition to Disease; Humans; Male; Middle Aged; Mutation; Neoplasm Staging; Polymorphism Single Nucleotide; Oncology; Cancer Researchbusiness
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