{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"contact_person":["Rosenfeld LabAdmin"],"full_dataset_link":["https://ega-archive.org/dacs/EGAC00001000387"],"host":["EGA"],"description":["EGA DAC EGAC00001000387"],"repository":["EGA"],"email":["Rosenfeld.LabAdmin@cruk.cam.ac.uk"],"pubmed_abstract":["Circulating tumour DNA analysis can be used to track tumour burden and analyse cancer genomes non-invasively but the extent to which it represents metastatic heterogeneity is unknown. Here we follow a patient with metastatic ER-positive and HER2-positive breast cancer receiving two lines of targeted therapy over 3 years. We characterize genomic architecture and infer clonal evolution in eight tumour biopsies and nine plasma samples collected over 1,193 days of clinical follow-up using exome and targeted amplicon sequencing. Mutation levels in the plasma samples reflect the clonal hierarchy inferred from sequencing of tumour biopsies. Serial changes in circulating levels of sub-clonal private mutations correlate with different treatment responses between metastatic sites. This comparison of biopsy and plasma samples in a single patient with metastatic breast cancer shows that circulating tumour DNA can allow real-time sampling of multifocal clonal evolution."],"pubmed_title":["Multifocal clonal evolution characterized using circulating tumour DNA in a case of metastatic breast cancer."],"pubmed_authors":["Murtaza Muhammed M, Dawson Sarah-Jane SJ, Pogrebniak Katherine K, Rueda Oscar M OM, Provenzano Elena E, Grant John J, Chin Suet-Feung SF, Tsui Dana W Y DWY, Marass Francesco F, Gale Davina D, Ali H Raza HR, Shah Pankti P, Contente-Cuomo Tania T, Farahani Hossein H, Shumansky Karey K, Kingsbury Zoya Z, Humphray Sean S, Bentley David D, Shah Sohrab P SP, Wallis Matthew M, Rosenfeld Nitzan N, Caldas Carlos C"],"additional_accession":[]},"is_claimable":false,"name":"Murtaza-Rosenfeld-Caldas Data Access Committee","description":"Data Access Committee EGAC00001000387","dates":{"output":"2025-1-9"},"accession":"EGAC00001000387","cross_references":{"TAXONOMY":["9606"],"pubmed":["26530965"],"EGA":["EGAS00001001466","EGAD00001002108"]}}