{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"technology_type":["Illumina HiSeq 2000"],"study_type":["Other"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001000760"],"host":["EGA"],"description":["EGA study EGAS00001000760"],"dataset_title":["Whole exome sequencing of metastatic breast cancer"],"repository":["EGA"],"category":["restricted"],"name_synonyms":["Breast Carcinoma, Human Mammary Neoplasm, primary breast cancer, Carcinoma, malignant tumor of the breast, Breast Carcinomas, \"breast neoplasm\" EXACT [MTH:120], Neoplasms, mammary neoplasm, Mammary Cancers, Human Mammary Neoplasms, Tumor, \"breast tumor\" EXACT [NCI2004_11_17:C2910], Human, Breast Malignant Neoplasm, Breast Malignant Tumor, \"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, BC, Mammary Neoplasms, malignant neoplasm of breast, Human Mammary, Breast Neoplasm, Mammary Neoplasm, Mammary Carcinoma, Human Mammary Carcinomas, Cancers, Breast Malignant Neoplasms., \"mammary neoplasm\" RELATED [], Cancer of the Breast, metastatic, breast cancer, cancer of breast, Malignant Tumor of Breast, Mammary, Mammary Cancer, Breast Tumors, Breast Cancer, Breast Malignant Tumors, Cancer of Breast, Breast, mammary cancer, cancer, mammary tumor, breast, Tumors, Cancer"],"description_synonyms":["whole exome, DNS, (Deoxyribonucleotide)n, Complete Exome, axillary node, number, SCF receptor activity, Xkl-1, PTS., presence, Deoxyribonucleic acids, PTPS, KL receptor activity, Gsfsco1, Deoxyribonucleic Acid, scfr, SCO5, Whole Transcriptome, Transcriptome Sequencing, SCO1, Relapses, Gsfsow3, SCFR, Gsfsco5, SOW3, WES, Fdc, thymus nucleic acid, Postmortem Examination, Complete, Exome Sequencings, Post-Mortem Examinations, Recrudescences, Complete Exome Sequencing, Whole Transcriptome Sequencing, Recurrences, Double Stranded, Deoxyribonucleic acid, W, Sequencing, Examination, Whole Exome, Whole, Bs, Double-Stranded DNA, (Deoxyribonucleotide)m, deoxyribonucleic acids, DNAn, Postmortem Examinations, Post-Mortem Examination, Sl, 2410066K11Rik, Relapse, proto-oncogene c-Kit, Complete Exome Sequencings, DNAn+1, Exome, Tr-kit, nodi lymphoidei axillares, Double-Stranded, Post-Mortem, (Deoxyribonucleotide)n+m, aln, PBT, Exome Sequencing, count in organism, Postmortem, Recrudescence, KIT ligand receptor activity, Examinations, kl1-A, ds-DNA, KIT, desoxyribose nucleic acid, XKrk1, tyrosine-protein kinase Kit, pbt, Complete Transcriptome, c-KIT, Complete Transcriptome Sequencing, PTS, Exomes, kit, CD117, PTP synthase, Thm1, Autopsies, metastatic, c-kit, C-Kit, Ssm, ds DNA, cardinality, Whole Exome Sequencing, Desoxyribonukleinsaeure, xkl-1, mKIAA1992, DNA, Post Mortem Examination, Transcriptome Sequencings, krk1"],"additional_accession":[]},"is_claimable":false,"name":"Unraveling metastatic progression of breast cancer","description":"To reconstruct the trajectories of BC progression, we performed exome sequencing (Illumina HiSeq2000, Truseq DNA sample preparation kit v2 and Exome Enrichment Kit v2; alignement done with BWA, substitutions and indels called with GATK and DINDEL respectively) coupled to validation by Sequenom and deep re-sequencing (ongoing), as well as copy number (CN) analyses (Oncoscan, Affymetrix) on DNA from matched primary (n=1-6/pt), axillary lymph node (ALN, n=1-6 for 4 pts), local recurrence (for 1 pt) and distant metastatic (n=1-5/pt) FFPE samples obtained from an autopsy series of 10 BC pts.","dates":{"updated":"2020-07-13 13:10:03"},"accession":"EGAS00001000760","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAD00001000836","EGAC00001000042"]}}