EGAGenomicsIllumina MiSeqOtherhttps://ega-archive.org/studies/EGAS00001001466EGAEGA study EGAS00001001466Sequencing data for Murtaza et al. Nature Communications 2015 (doi:10.1038/ncomms9760)EGArestrictedCirculating 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.Multifocal clonal evolution characterized using circulating tumour DNA in a case of metastatic breast cancer.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 CFresh, Breast Carcinoma, Human Mammary Neoplasm, primary breast cancer, Carcinoma, malignant tumor of the breast, Frozen Plasma, Breast Carcinomas, Malignant Neoplasm, "breast neoplasm" EXACT [MTH:120], Fresh Frozen Plasma, Blood, Neoplasms, Benign Neoplasm, mammary neoplasm, Mammary Cancers, Human Mammary Neoplasms, Tumor, "breast tumor" EXACT [NCI2004_11_17:C2910], Plasmas, Malignant, Client, Human, Breast Malignant Neoplasm, Frozen Plasmas, Breast Malignant Tumor, Benign, "neoplasm of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:126926005], Mammary Carcinomas, Breast Tumor, Neoplasm, Human Mammary Carcinoma, "mammary tumor" EXACT [CSP2005:2016-0671], NOS, breast tumor, cancer of the breast, Malignant Neoplasm of Breast, Carcinomas, Plasma, BC, Mammary Neoplasms, malignant neoplasm of breast, Fresh Frozen Plasmas, Fresh Frozen, Blood Plasma, Human Mammary, Breast Neoplasm, Malignancy, Mammary Neoplasm, Mammary Carcinoma, Human Mammary Carcinomas, portion of plasma, Benign Neoplasms, patient, Cancers, Breast Malignant Neoplasms., "mammary neoplasm" RELATED [], Cancer of the Breast, Malignant Neoplasms, Neoplasias, metastatic, Patient, breast cancer, cancer of breast, Malignant Tumor of Breast, Clients, Mammary, Mammary Cancer, Blood Plasmas, Breast Tumors, Breast Cancer, Breast Malignant Tumors, Cancer of Breast, Malignancies, Breast, mammary cancer, other neoplasm, cancer, mammary tumor, plasma, Neoplasia, breast, Cancer, Tumorsextent, Therapy, Fresh, Tumor DNA, Frozen Plasma, ERBB2 Overexpressing subtype of breast carcinoma, Malignant Neoplasm, HER2 positive breast carcinoma, Fresh Frozen Plasma, determination, Burden, completeness, Tumor Weight, Neoplasms, Blood, Benign Neoplasm, Circulating, Cell Free Tumor DNA, Tumor, Malignant, Plasmas, Circulating Tumor, Pangenome, Client, Somatic Evolution, Tumor Weights, Load, Frozen Plasmas, MT, Benign, Clonal, Core Genome, chemical analysis, Weight, Cell-Free, Neoplasm, Cell-Free Tumor DNA, Tumor Load, Volume, HER2 Positive breast cancer, treatment, Plasma, Somatic, Fresh Frozen Plasmas, Fresh Frozen, Blood Plasma, primary cancer, Biopsies, Malignancy, Genomes, Her2-receptor positive breast cancer, Loads, follow up, Accessory Genome, Exomes, Weights, Benign Neoplasms, portion of plasma, patient, Cancers, Evolution, HER2 Overexpressing breast carcinoma, malignant tumor, Treatments, Malignant Neoplasms, HER2 Overexpressing subtype of breast carcinoma, Neoplasias, Cell-Free Tumor, metastatic, Pan-genome, Patient, Therapeutic, malignant neoplasm, Clients, Blood Plasmas, heterogeneity, disease management, Therapies, Treatment, Malignancies, assay, Tumor Volume, DNA, Tumor Loads, other neoplasm, whole exome., Neoplasia, plasma, Cancer, TumorsBreast Carcinoma, Human Mammary Neoplasm, primary breast cancer, Carcinoma, malignant tumor of the breast, Breast Carcinomas, DNS, "breast neoplasm" EXACT [MTH:120], (Deoxyribonucleotide)n, DNAn+1, Neoplasms, mammary neoplasm, Mammary Cancers, Human Mammary Neoplasms, Double-Stranded, Tumor, "breast tumor" EXACT [NCI2004_11_17:C2910], Somatic Evolution, Deoxyribonucleic acids, Human, (Deoxyribonucleotide)n+m, Breast Malignant Neoplasm, Breast Malignant Tumor, Clonal, Deoxyribonucleic Acid, "neoplasm of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:126926005], Mammary Carcinomas, Breast Tumor, Neoplasm, Human Mammary Carcinoma, "mammary tumor" EXACT [CSP2005:2016-0671], NOS, breast tumor, cancer of the breast, ds-DNA, desoxyribose nucleic acid, Malignant Neoplasm of Breast, Carcinomas, BC, Somatic, Mammary Neoplasms, malignant neoplasm of breast, thymus nucleic acid, Human Mammary, Breast Neoplasm, Mammary Neoplasm, Mammary Carcinoma, Human Mammary Carcinomas, Double Stranded, Deoxyribonucleic acid, Cancers, Breast Malignant Neoplasms., Evolution, "mammary neoplasm" RELATED [], Cancer of the Breast, metastatic, breast cancer, cancer of breast, Malignant Tumor of Breast, Mammary, Mammary Cancer, Breast Tumors, Breast Cancer, ds DNA, Desoxyribonukleinsaeure, Breast Malignant Tumors, Cancer of Breast, Double-Stranded DNA, (Deoxyribonucleotide)m, DNA, deoxyribonucleic acids, DNAn, Breast, mammary cancer, other neoplasm, cancer, mammary tumor, breast, Tumors, Cancerextent, Erbb-2, Fresh, primary breast cancer, whole exome, malignant tumor of the breast, DNS, Fresh Frozen Plasma, (Deoxyribonucleotide)n, determination, Effects, Neoplasms, Blood, Benign Neoplasm, mammary neoplasm, Mammary Cancers, Human Mammary Neoplasms, Tumor, Malignant, Deoxyribonucleic acids, Long Term, Human, CD340, Mutations, Breast Malignant Tumor, Kiaa3023, sampling, Deoxyribonucleic Acid, RRG6, Clonal, "neoplasm of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:126926005], Breast Tumor, Core Genome, "mammary tumor" EXACT [CSP2005:2016-0671], breast tumor, cancer of the breast, cytopathology, HER-2/neu, Effect, BC, treatment, Mammary Neoplasms, malignant neoplasm of breast, Somatic, Fresh Frozen Plasmas, Fresh Frozen, Blood Plasma, thymus nucleic acid, Human Mammary, Biopsies, Malignancy, Genomes, Longterm, Mammary Neoplasm, HER-2, Mammary Carcinoma, Accessory Genome, Human Mammary Carcinomas, Double Stranded, Deoxyribonucleic acid, Long-Term, Evolution, Cancer of the Breast, Neoplasias, GEP6, malignant neoplasm, cancer of breast, Malignant Tumor of Breast, Clients, Mammary, Mammary Cancer, Blood Plasmas, heterogeneity, disease management, Therapies, Double-Stranded DNA, Malignancies, Long-Term Effect, (Deoxyribonucleotide)m, deoxyribonucleic acids, DNAn, Breast, mammary cancer, mammary tumor, Breast Malignant Neoplasms, Long-Term Effects, plasma, Cancer, Tumors, Neu, NEU, Therapy, Breast Carcinoma, Human Mammary Neoplasm, Carcinoma, Frozen Plasma, Breast Carcinomas, Malignant Neoplasm, "breast neoplasm" EXACT [MTH:120], completeness, DNAn+1, HER-2|neu, mKIAA3023, Longterm Effect, MLN19, Double-Stranded, "breast tumor" EXACT [NCI2004_11_17:C2910], Plasmas, Pangenome, Client, Somatic Evolution, (Deoxyribonucleotide)n+m, Breast Malignant Neoplasm, Frozen Plasmas, MT, Benign, Mammary Carcinomas, chemical analysis, Long Term Effects, Neoplasm, NGL, Human Mammary Carcinoma, NOS, ds-DNA, desoxyribose nucleic acid, Malignant Neoplasm of Breast, c-neu, Carcinomas, Plasma, primary cancer, Breast Neoplasm, histopathology, c-erbB2, follow up, Exomes, Benign Neoplasms, portion of plasma, patient, Cancers, "mammary neoplasm" RELATED [], malignant tumor, Treatments, Longterm Effects, Malignant Neoplasms, MLN 19, metastatic, sample collection, Pan-genome, Clonal., Patient, breast cancer, Therapeutic, Breast Tumors, Breast Cancer, ds DNA, Desoxyribonukleinsaeure, Breast Malignant Tumors, TKR1, Cancer of Breast, Treatment, assay, DNA, biopsy, other neoplasm, cancer, Neoplasia, HER2, breastfalseSequencing of serial plasma and multiregional tumor samples in a patient with metastatic breast cancerCirculating tumor DNA analysis can be used to track tumor burden and analyze cancer genomes non-invasively but the extent to which it represents metastatic heterogeneity is unknown. Here, we follow a patient with metastatic ER and HER2 positive breast cancer receiving two lines of targeted therapy over 3 years. We characterize genomic architecture and infer clonal evolution in 8 tumor biopsies and 9 plasma samples collected over 1,193 days of clinical follow-up using exome and targeted amplicon sequencing.2017-07-26 15:39:27EGAS00001001466960626530965EGAD00001002108EGAC00001000387