EGAGenomicsCancer Genomicshttps://ega-archive.org/studies/EGAS00001005228EGAEGA study EGAS00001005228Comparison of single/pooled CTCs and bulk exome sequencingEGArestrictedBreast Carcinoma, Human Mammary Neoplasm, primary breast cancer, Carcinoma, malignant tumor of the breast, Breast Carcinomas, Malignant Neoplasm, Complete Exome Sequencings, "breast neoplasm" EXACT [MTH:120], Complete Exome, Neoplasms, Exome, Benign Neoplasm, mammary neoplasm, Mammary Cancers, Human Mammary Neoplasms, Tumor, "breast tumor" EXACT [NCI2004_11_17:C2910], Malignant, Cell, Human, Breast Malignant Neoplasm, Exome Sequencing, 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, Whole Transcriptome, Transcriptome Sequencing, cancer of the breast, Malignant Neoplasm of Breast, Carcinomas, BC, Mammary Neoplasms, malignant neoplasm of breast, WES, Complete Transcriptome, Human Mammary, Breast Neoplasm, Complete, Complete Transcriptome Sequencing, Exome Sequencings, Malignancy, Mammary Neoplasm, Complete Exome Sequencing, Whole Transcriptome Sequencing, Mammary Carcinoma, Human Mammary Carcinomas, Benign Neoplasms, Cancers, Breast Malignant Neoplasms., "mammary neoplasm" RELATED [], Sequencing, Cancer of the Breast, Malignant Neoplasms, Neoplasias, Whole Exome, breast cancer, cancer of breast, Malignant Tumor of Breast, Mammary, Mammary Cancer, Whole, Breast Tumors, Breast Cancer, Whole Exome Sequencing, Breast Malignant Tumors, Cancer of Breast, Malignancies, Breast, mammary cancer, other neoplasm, Transcriptome Sequencings, cancer, mammary tumor, Neoplasia, breast, Cancer, Tumorsextent, Erbb-2, triple-receptor negative breast cancer, malignant tumor of the breast, methionine aminopeptidase activity, Compounds, estrogenes, mammary neoplasm, Human Mammary Neoplasms, CG9842, Estra, ER[a], Tumor, TNBC, xlERalpha1, xlERalpha2, Tp53, CD340, Mutations, dmTAF[[II]]230, triple-negative breast cancer, Kiaa3023, primary tumour, "neoplasm of breast (disorder)" EXACT [SNOMEDCT_2005_07_31:126926005], triple-negative breast carcinoma, bbl, CAN A1/PP2B, 2900074D19Rik, 2, CG1455, cancer of the breast, Whole Transcriptome, Transcriptome Sequencing, xesr-1, Calna, peptidase M activity, adenomas, treatment, CnnA14D, BC, Mammary Neoplasms, malignant neoplasm of breast, rabGAPLP, L-methionine aminopeptidase activity, AU041214, TFIID TAF250, BCC7, cel, Complete Exome Sequencing, Whole Transcriptome Sequencing, Tissue, Human Mammary Carcinomas, RabGAP-5, Dietary Fiber, canA, cancer of breast, CN, RUSC3, ERbeta, disease management, oestrogene, Therapies, oestrogens, Malignancies, PP2B, Nucleotide, INCURVATA 4, mammary cancer, Estrogene, Estrogenic, Breast Malignant Neoplasms, Cana1, Tumors, Nr3a1, Therapy, Carcinoma, dTAF[[II]]230, DmelCG1455, "breast neoplasm" EXACT [MTH:120], completeness, Exome, Oestrogene, MYH-associated polyposis, TAF200, autosomal recessive familial adenomatous polyposis, Maps, Estrogen Receptor Agonists, MLN19, Receptor Agonists, TAFII-250, TAF250/230, Caln, TAFII250, DmelCG9842, Benign, ER, NOS, simple tissue, bfy, Estrogenic Effects, Malignant Neoplasm of Breast, nucleotides, c-neu, autosomal recessive, Carcinomas, oestrogen, RUTBC3, Complete Transcriptome, estrogenes Hormon, Heterogeneity, Benign Neoplasms, pooled, "mammary neoplasm" RELATED [], CG17603, TAF[[II]], Treatments, DmCanA1-100B, PP2B-14D, Malignant Neoplasms, RABGAP5, MLN 19, metastatic, Agents, Taf250, breast cancer, Patient, primary tumor, SR3-5, Breast Tumors, Estrogen Effect, multiple colorectal, Whole Exome Sequencing, P53, Breast Malignant Tumors, TKR1, p44, bhy, Estrogenic Compounds, other neoplasm, cancer, Transcriptome Sequencings, TAF230, ATHB15, Malignant Neoplasms., Estrogenic Agents, esr1, primary breast cancer, XER, d230, Estrogen Receptor, Effects, Complete Exome, Neoplasms, p53, esr1b, Benign Neoplasm, number, esr1a, AA420328, Mammary Cancers, dTAFII250, CnA, EfW1, Malignant, SAD3, LFS1, presence, PpD33, Human, Breast Malignant Tumor, RRG6, dmTAF1, Taf230, Breast Tumor, Pp2B-14DF, Genetic heterogeneity, resistance, "mammary tumor" EXACT [CSP2005:2016-0671], breast tumor, Era, CNA, HER-2/neu, Agonists, ICU4, Estrogen Effects, familial adenomatous polyposis, MAP, TAF250, CnnA21EF, Taf200, WES, Human Mammary, Complete, dTAF[[II]]250, Exome Sequencings, Genetic, Genetic Heterogeneities, Malignancy, cell, Mammary Neoplasm, HER-2, NR3A1, familial adenomatous polyposis 2, Mammary Carcinoma, ERalpha, Taf1p, ERa, estrogenos, Sequencing, nr3a1, Cancer of the Breast, autosomal recessive multiple colorectal adenomas, Neoplasias, dTAF250, AW413465, GEP6, Whole Exome, ESR, Esr, Trp53, D14, Malignant Tumor of Breast, Mammary, Mammary Cancer, Clients, Whole, ESR1, heterogeneity, xesr1, RNESTROR, TRP53, TAF, Breast, mammary tumor, ESRA, Pp12-14D, Cancer, Neu, NEU, Breast Carcinoma, Human Mammary Neoplasm, TAF[[II]]250, Breast Carcinomas, Malignant Neoplasm, AI841391, Complete Exome Sequencings, MUTYH-Associated Polyposis, DmPp2B-14D, HER-2|neu, mKIAA3023, l(3)84Ab, estrogene, BG:DS00004.13, "breast tumor" EXACT [NCI2004_11_17:C2910], Client, Cell, Xp53, dTAF230, Breast Malignant Neoplasm, CanA14D, count in organism, CNA1, Exome Sequencing, D33, estrogens, Mammary Carcinomas, p230, pMY4, estrogeno, Neoplasm, TAF[[II]]250/230, Can, RAD31, TFIID, Human Mammary Carcinoma, NGL, Oestrogen, Estrogenic Effect, Taf[[II]]250, PP2B 21EF, Breast Neoplasm, TAF[[II]]230, Estrogen, Complete Transcriptome Sequencing, CORONA, distinct, primary neoplasia, c-erbB2, F5F19.21, Heterogeneities, ESTRR, TAF[II]250, patient, Cancers, MYH-Associated Polyposis, PpD14, F5F19_21, PP2B 14D, DmelCG17603, Therapeutic, Breast Cancer, Estr, esr-1, cardinality, Treatment, Cancer of Breast, MAP syndrome, Neoplasia, HER2, breast, ER-alpha, FAP2, oestrogenes, TAF1, colorectal adenomatous polyposisfalseCirculating tumor cells Exome sequencing from breast cancerSingle cell technologies allow interrogating the extent of tumor heterogeneity, providing novel insights into tumor evolution and treatment resistance mechanisms. Here, we investigated the level of genetic heterogeneity among circulating tumor cells (CTCs) at the single nucleotide variation and copy number aberration (CNA) levels and compared it to synchronous matched primary tumor/metastatic lesion from 3 metastatic breast cancer patients with triple-negative (TNBC), HER2-positive (HER2+) and estrogen-receptor-positive (ER+) tumors. Whole exome sequencing was performed on 3 synchronous bulk tumor tissue and 21 single/pooled CTC samples. When comparing bulk tissue with CTCs from the same patient, we found similar CNA profiles and the same patient-specific driver mutations for the HER2+ and TNBC tumors. Different CNA profiles and driver mutations were found for the ER+ tumor, with two distinct clones being identified in the CTCs, one harboring an activating ESR1 mutation, the other one bearing a TP53 mutation. These data suggest that tumor tissue and CTCs provide in a subset of patients complementary clinically relevant information to map tumor heterogeneity and monitor tumor evolution. Further validation is needed.2023-08-21 14:59:39EGAS000010052289606EGAD00001009052EGAC00001002254