Featured Publications
Somatic mutations and clonal dynamics in healthy and cirrhotic human liver
Brunner S, Roberts N, Wylie L, Moore L, Aitken S, Davies S, Sanders M, Ellis P, Alder C, Hooks Y, Abascal F, Stratton M, Martincorena I, Hoare M, Campbell P. Somatic mutations and clonal dynamics in healthy and cirrhotic human liver. Nature 2019, 574: 538-542. PMID: 31645727, PMCID: PMC6837891, DOI: 10.1038/s41586-019-1670-9.Peer-Reviewed Original ResearchMeSH KeywordsCarcinoma, HepatocellularClone CellsDNA Mutational AnalysisFibrosisHepatocytesHumansLiverMaleMiddle AgedMutationPhylogenyStem CellsConceptsChronic liver diseaseHepatocellular carcinomaLiver diseaseCirrhotic liverMutational burdenSomatic mutationsMutational signaturesProgression to chronic liver diseaseSynchronous hepatocellular carcinomaNon-malignant hepatocytesExcessive alcohol intakeComplexity of hepatocellular carcinomaBands of fibrosisNon-alcoholic fatty liver diseaseStructural variantsFatty liver diseaseGenome of hepatocellular carcinomaClinical spectrumAlcohol intakeLiver failureViral hepatitisClonal expansionMalignant transformationHealth to diseaseRegenerative nodules
2015
Next-generation sequencing is highly sensitive for the detection of beta-catenin mutations in desmoid-type fibromatoses
Aitken S, Presneau N, Kalimuthu S, Dileo P, Berisha F, Tirabosco R, Amary M, Flanagan A. Next-generation sequencing is highly sensitive for the detection of beta-catenin mutations in desmoid-type fibromatoses. Virchows Archiv 2015, 467: 203-210. PMID: 25838078, DOI: 10.1007/s00428-015-1765-0.Peer-Reviewed Original ResearchConceptsNext-generation sequencingRestriction enzyme digestionMutation-specific restriction enzyme digestionEnzyme digestionIon Torrent Personal Genome MachineDesmoid-type fibromatosesPersonal Genome MachineMutation detection techniquesSpecificity of next-generation sequencingPolymerase chain reaction amplificationPrimer pairsCTNNB1 mutationsMinimal DNAMutational hotspotsBeta-catenin mutationsDetected CTNNB1 mutationsBeta-cateninMutationsDNAParaffin-embedded needle biopsiesSequenceSpindle cell lesionsMultiplex assayRecurrent tumorsNeedle biopsy
2014
Mutations in IDH1 and IDH2 are not present in sporadic ovarian sex cord–stromal tumours
Aitken S, Presneau N, Khatri B, Flanagan A, Clarke B, McCluggage W. Mutations in IDH1 and IDH2 are not present in sporadic ovarian sex cord–stromal tumours. Histopathology 2014, 66: 897-898. PMID: 25040869, DOI: 10.1111/his.12489.Peer-Reviewed Original ResearchDNA Mutational AnalysisFemaleHumansIsocitrate DehydrogenaseMutationOvarian NeoplasmsSex Cord-Gonadal Stromal Tumors