EGAGenomicsIllumina MiSeq;https://ega-archive.org/datasets/EGAD0000100210830EGA dataset EGAD00001002108EGACirculating 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 CData Set.Fresh, whole exome, 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, Neoplasms, Blood, Benign Neoplasm, mammary neoplasm, Mammary Cancers, Human Mammary Neoplasms, Tumor, "breast tumor" EXACT [NCI2004_11_17:C2910], Malignant, Plasmas, 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, Exomes, Human Mammary Carcinomas, Benign Neoplasms, portion of plasma, 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, Neoplasia, plasma, breast, 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, breastfalse473655_dataset - samplesExome and targeted amplicon sequencing data for tumor, germline and plasma samples from a patient with metastatic breast cancer.2017-07-26 15:39:27EGAD00001002108960626530965EGAC00001000387EGAS00001001466