{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"technology_type":["Illumina HiSeq 2500, Illumina HiSeq 4000, ILLUMINA, NextSeq 500"],"study_type":["Other"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001001695"],"host":["EGA"],"description":["EGA study EGAS00001001695"],"dataset_title":["Whole-exome sequencing of breast cancer metastasis and corresponding blood samples"],"repository":["EGA"],"category":["restricted"],"pubmed_abstract":["<h4>Background</h4>Major advances have been achieved in the characterization of early breast cancer (eBC) genomic profiles. Metastatic breast cancer (mBC) is associated with poor outcomes, yet limited information is available on the genomic profile of this disease. This study aims to decipher mutational profiles of mBC using next-generation sequencing.<h4>Methods and findings</h4>Whole-exome sequencing was performed on 216 tumor-blood pairs from mBC patients who underwent a biopsy in the context of the SAFIR01, SAFIR02, SHIVA, or Molecular Screening for Cancer Treatment Optimization (MOSCATO) prospective trials. Mutational profiles from 772 primary breast tumors from The Cancer Genome Atlas (TCGA) were used as a reference for comparing primary and mBC mutational profiles. Twelve genes (TP53, PIK3CA, GATA3, ESR1, MAP3K1, CDH1, AKT1, MAP2K4, RB1, PTEN, CBFB, and CDKN2A) were identified as significantly mutated in mBC (false discovery rate [FDR] < 0.1). Eight genes (ESR1, FSIP2, FRAS1, OSBPL3, EDC4, PALB2, IGFN1, and AGRN) were more frequently mutated in mBC as compared to eBC (FDR < 0.01). ESR1 was identified both as a driver and as a metastatic gene (n = 22, odds ratio = 29, 95% CI [9-155], p = 1.2e-12) and also presented with focal amplification (n = 9) for a total of 31 mBCs with either ESR1 mutation or amplification, including 27 hormone receptor positive (HR+) and HER2 negative (HER2-) mBCs (19%). HR+/HER2- mBC presented a high prevalence of mutations on genes located on the mechanistic target of rapamycin (mTOR) pathway (TSC1 and TSC2) as compared to HR+/HER2- eBC (respectively 6% and 0.7%, p = 0.0004). Other actionable genes were more frequently mutated in HR+ mBC, including ERBB4 (n = 8), NOTCH3 (n = 7), and ALK (n = 7). Analysis of mutational signatures revealed a significant increase in APOBEC-mediated mutagenesis in HR+/HER2- metastatic tumors as compared to primary TCGA samples (p < 2e-16). The main limitations of this study include the absence of bone metastases and the size of the cohort, which might not have allowed the identification of rare mutations and their effect on survival.<h4>Conclusions</h4>This work reports the results of the analysis of the first large-scale study on mutation profiles of mBC. This study revealed genomic alterations and mutational signatures involved in the resistance to therapies, including actionable mutations."],"pubmed_title":["Mutational Profile of Metastatic Breast Cancers: A Retrospective Analysis."],"pubmed_authors":["Lefebvre Celine C, Bachelot Thomas T, Filleron Thomas T, Pedrero Marion M, Campone Mario M, Soria Jean-Charles JC, Massard Christophe C, Lévy Christelle C, Arnedos Monica M, Lacroix-Triki Magali M, Garrabey Julie J, Boursin Yannick Y, Deloger Marc M, Fu Yu Y, Commo Frédéric F, Scott Véronique V, Lacroix Ludovic L, Dieci Maria Vittoria MV, Kamal Maud M, Diéras Véronique V, Gonçalves Anthony A, Ferrerro Jean-Marc JM, Romieu Gilles G, Vanlemmens Laurence L, Mouret Reynier Marie-Ange MA, Théry Jean-Christophe JC, Le Du Fanny F, Guiu Séverine S, Dalenc Florence F, Clapisson Gilles G, Bonnefoi Hervé H, Jimenez Marta M, Le Tourneau Christophe C, André Fabrice F"],"name_synonyms":["tumor cell migration, WES, Complete Transcriptome, Exome Sequencing, Whole Exome, Complete, Complete Transcriptome Sequencing, Exome Sequencings, Complete Exome Sequencings, Complete Exome, Whole, Complete Exome Sequencing, Whole Transcriptome Sequencing, Whole Exome Sequencing, whole blood., Exome, Whole Transcriptome, Transcriptome Sequencing, neoplasm metastasis, Transcriptome Sequencings, tumor metastasis, Sequencing, cancer metastasis"],"description_synonyms":["primary breast cancer, malignant tumor of the breast, DNS, Activity, determination, watermelon stomach, (Deoxyribonucleotide)n, Laboratory, Complete Exome, Neoplasms, Benign Neoplasm, mammary neoplasm, Mammary Cancers, Human Mammary Neoplasms, Consent, Tumor, Malignant, Deoxyribonucleic acids, Human, Breast Malignant Tumor, GAVE, Deoxyribonucleic Acid, \"neoplasm of breast (disorder)\" EXACT [SNOMEDCT_2005_07_31:126926005], Breast Tumor, \"mammary tumor\" EXACT [CSP2005:2016-0671], breast tumor, cancer of the breast, Whole Transcriptome, Transcriptome Sequencing, cytopathology, Research Activity, Watermelon stomach (disorder), Laboratory Research, Priorities, BC, study, Mammary Neoplasms, malignant neoplasm of breast, WES, Human Mammary, thymus nucleic acid, Complete, Exome Sequencings, Biopsies, Genomes, Malignancy, Research, Mammary Neoplasm, Complete Exome Sequencing, Mammary Carcinoma, Whole Transcriptome Sequencing, Human Mammary Carcinomas, Double Stranded, Deoxyribonucleic acid, Sequencing, Cancer of the Breast, genetic, Neoplasias, Whole Exome, cancer of breast, Malignant Tumor of Breast, Informed, Mammary, Mammary Cancer, Clients, Whole, Malignancies, Double-Stranded DNA, Development and Research, (Deoxyribonucleotide)m, Research Priority, deoxyribonucleic acids, DNAn, Breast, mammary cancer, constitutitional genetic, mammary tumor, Breast Malignant Neoplasms, Tumors, Cancer, gastric antral vascular ectasia (disorder), Breast Carcinoma, Human Mammary Neoplasm, Carcinoma, Breast Carcinomas, \"breast neoplasm\" EXACT [MTH:120], Malignant Neoplasm, Gastric Antral Vascular Ectasia, Complete Exome Sequencings, metastatic malignant neoplasm, whole blood, metastatic cancer, malignant, DNAn+1, Arts, Exome, familial, Research Priorities, Double-Stranded, \"breast tumor\" EXACT [NCI2004_11_17:C2910], Client, results, metastatic neoplasm, Breast Malignant Neoplasm, (Deoxyribonucleotide)n+m, Exome Sequencing, metastatic disease, Priority, Benign, Mammary Carcinomas, chemical analysis, Research Activities, Neoplasm, Human Mammary Carcinoma, NOS, ds-DNA, gastric antral vascular ectasia, desoxyribose nucleic acid, Malignant Neoplasm of Breast, Carcinomas, Research and Development, Complete Transcriptome, Breast Neoplasm, Industrial, Complete Transcriptome Sequencing, histopathology, Industrial Arts, Benign Neoplasms, Cancers, whole genome, Breast Malignant Neoplasms., \"mammary neoplasm\" RELATED [], malignant metastatic neoplasm, Malignant Neoplasms, Activities, metastatic, breast cancer, Patient, metastatic tumor, Breast Tumors, Breast Cancer, ds DNA, Whole Exome Sequencing, metastatic tumour, Breast Malignant Tumors, Desoxyribonukleinsaeure, Cancer of Breast, inherited genetic, assay, DNA, biopsy, other neoplasm, cancer, hereditary, Transcriptome Sequencings, Neoplasia, breast"],"pubmed_title_synonyms":["mamma, mammary region, metastatic, Breasts, determination, Lobe of mammary gland, Lobe of breast, mammary part of chest, Lactiferous gland, chemical analysis., assay, Brustdruese, glandula mammaria, breast"],"pubmed_abstract_synonyms":["RGD1304759, Erbb-2, P Cadherins, Materials, p19<ARF>, PROSPECTIVE, DAKT1/PKB, 6720421I08Rik, Tumor, AKT1, dGe-1, Summary Report, A530055M08, ME 109, Mutations., RAFT1, rbf, study limitations, Fs(3)Hor, myd, Deep Sequencing, BC, AU041214, Gene Amplification Abnormality, like-acetylglucosaminyltransferase, Involvement, Molecular, GATA-3, C1, plant peltate hair, CASIL, procedures, cbfbeta, 4732427B05, RacPK, Malignant Germ Cell International Collaborative Risk Classification, Application Context, Presentation, l(3)109, Homo sapiens disease, CBF-B, Metastases to bone, Breast Malignant Neoplasms, Tumors, screening, mutagenesis, Low Income, retinoblastoma, Metastatic Neoplasm to the Bone, E Cadherin, Fs(3)Sz11, Arc-1, AKT/PKB, Benign, PTEN3, SCS1, PTEN1, ER, APC/C[Fzr/Cdh1], mKIAA0609, Gene Variation Negative, Genetic Alteration, CDC20C, p-Akt, Cadherins, HCT1, c-neu, tumor of breast, Carcinomas, AI662014, Cchl1a1, statistical significance, XGATA3, tumour of the breast, IMDC Poor Risk Group, Tcs2, death rate, Predominant, Benign Neoplasms, Agrin, \"mammary neoplasm\" RELATED [], dTSC1, PTENa, dTSC2, dAKT/dPKB, Present, Malignant Neoplasms, Poor CALGB Criteria, MBCS, PEA2, MDC1D, Report, C-JUN N-terminal kinase kinase 1, tumour of breast, enr, familial retinoblastoma, Info, Whole Exome Sequencing, Breast Malignant Tumors, IMF2, 6975, cancer, CDKN2, DmelCG4006, WHOLE EXOME SEQUENCING, localised, Neoplasms, peltate hair, Prospective, Fzr/rap, CG6975, Mammary Cancers, Cdh1, APOBEC, Available, dRBF, AW122239, Aim, akt-1, Cdh[Fzr], Breast Tumor, Deep, AI463227, Tcrz, Screening, mutation, Era, HER-2/neu, Technique, Mekk, AA960649, OSBP3, P-Cadherin, Bx34, Metastatic Malignant Neoplasm to the Bone, BC022641, Malignant Neoplasm Treatment, MBC, absent from organism, tor, Pyrosequencing, MAPKKK1, Tpr, MEK 4, AIMS01, Sequencing, nr3a1, rap/Fzr, Study, Neoplasias, ECAD, Esr, P-Cadherins, pebp2-beta, Cdh1/Fzr, Akt, Appearance, B430203M17Rik, genome, Not Mutated, MCM, Investigative Reports, p180erbB4, Mouse brain class C, Including, rap/fzr, Neu, Breast Carcinoma, Human Mammary Neoplasm, JNKK, TP16, Breast Carcinomas, findings, Malignant Neoplasm, PTEN, Longitudinal Study, longitudinal study, akt, HER-2|neu, disorders, WXS, DAkt1, dPten, mTOR, pten, p16INK4a, Mer4, Availability, Genetic Change, E-Cadherins, N3, Epithelial-Cadherin, P14ARF, chemical analysis, Research Reports, PKB-ALPHA, Amplification, PPP1R130, condition, scales, Mutation, Next Generation Sequencing, CG10379, P16INK4A, pkb, CG5671, Abnormal Involuntary Movement Scale Clinical Classification, c-erbB2, UVO, ER and/or PR Positive, Nafld, CG3000, PPP1R160, Lds, E-cad, INK4a-ARF, dAkt/PKB, Outcome of Therapy, Primary Cause of Death, High Throughput Nucleotide Sequencing, Neoplasia, CD246, Main, FZR, malignant tumor of the breast, Presented, scale tissue, ALS19, l(1)G0418, Breast Neoplasms, Liver Cell Adhesion Molecule, FKBP12-rapamycin complex-associated protein, Characterization, jal, Human Mammary Neoplasms, Estra, Cdh1[Fzr], xgata-3, l(2)k03905, Tp53, rap/fizzy-related, Techniques, Presenting, Statistical Significance, treatment outcome, RB, Pebpb2, p110alpha, Arf, xesr-1, mKIAA0243, Whole-Exome Sequencing, Risk Ratio, Mammary Neoplasms, RCD8, DmelCG2684, human disease, Gene Mutation Negative, pea2-beta, Identification, statistically significant, Rb, Rc, Human Mammary Carcinomas, apoB mRNA editing enzyme complex, MTS-1, PKB|Akt, notch 3, Nrn1l, High Throughput RNA Sequencing, Had, ERbeta, P14, P16, TK, P19, Has, P16-INK4A, FIRST DEGREE, dTOR, FK506-binding protein 12-rapamycin complex-associated protein 1, High-Throughput RNA, Nr3a1, Primary Tumor, SAPK kinase 1, \"breast neoplasm\" EXACT [MTH:120], gyltl1b-b, MLM, High-Throughput DNA Sequencing, SAPKK1, p16, first-degree relative, High Prevalence, CED-5, results, uniparental disomy, DAlk, PKB/Akt, bone metastasis, Ion Torrent Sequencing, dAKT, LRRG00115, Involved, significant, Hch, Massively-Parallel Sequencing, PRCDTH, dALK, Um, DAkt, KIAA0609, Malignant Neoplasm of Breast, CMSPPD, Nfya, absence, histopathology, pAkt, NEOPL BREAST, MMAC1, DmelCG10379, ERBB2 Negative, Methodological Study, early, Gene Mutant Negative, MLN 19, disease, Dakt, First Degree Relative, 5092, dPKB, dTSC, P53, p44, TKR1, hamartin, EG:34F3.3, BZS, redax, Rbf1, END8, Bone Metastasis, DRAC-PK85, primary breast cancer, XER, MAP kinase kinase 4, High Throughput DNA Sequencing, Procedures, p53, esr1b, esr1a, GE1, Malignant, l(2)k17004, Gyltl1a, Dpkb, Hek8, Investigative, RRG6, Tsc2, Gene Variant Negative, CG8250, Studies, Mass, OSRC, \"mammary tumor\" EXACT [CSP2005:2016-0671], ge-1, DmF2, primary, Sek1, lod, Genomic Testing, study, Tokelau, MKK4, Human Mammary, Cross-Product Ratio, Ion Proton Sequencing, Risk Ratios, rcd-8, Dm MBC, NR3A1, Ratio, nmf380, Heightened, Union Islands, GEP6, Cancer Therapeutic Procedure, neoplasm of the breast, Genomic Profiling, wex, time of survival, Mammary, Mammary Cancer, Clients, JNK-activating kinase 1, DRAC-PK, disorder, RNA Sequencing, Gene Mutation Not Detected, TRP53, K+ transporter 1, Breast, CT24817, Possess, Dock180, Cross-Product, P16INK4, Include, N-Cadherin, medical condition, DmelCG6181, DmelCG5092, HER2 Negative, Xp53, Breast Malignant Neoplasm, AI385584, 2.7.11.1, survival, Mass Screenings, DNA Sequencing, TCGA, The Cancer Genome Atlas, effect, Bone Metastases, Performed, Breast Neoplasm, 10q23del, rocky, DRAC-PK66, CDK4I, Rb-1, AI327068, A130070J02Rik, alpha-1 polypeptide, introduction, P Cadherin, Relative Odds, dakt1, High-Throughput Sequencing, Increase, P19ARF, CG8274, Breast Cancer, Estr, esr-1, Aims, dAKT1, RAC, AW229011, trilateral, Pebp2, Summary, Ion Proton, ER-alpha, E Cadherins, POTASSIUM TRANSPORTER, Her4, Field Report, methodology, Hec/Cdh[Fzr], RB1, Voltage-gated calcium channel subunit alpha Cav1.2, N Cadherin, DmelCG6147, PRKBA, MAPKK 4, Akt/PKB, 2610315D21Rik, Nucleotide Sequencing, Metastatic Malignant Neoplasm in the Bone, acetylglucosaminyltransferase-like protein, Liver Cell Adhesion Molecules, DPTEN, 9830123M21Rik, E-Cadherin, Tyro1, RBF, Progress Reports, HDRS, xlERalpha1, xlERalpha2, DOCK180, DmTOR, limitations, Mutations, p110-alpha, Relative, RBR, Compared, Kiaa3023, mili, Treatment Effect, Method, Calcium channel, bbl, symptoms, ARF-INK4a, cancer of the breast, RETINOBLASTOMA PROTEIN, TEP1, Mammalian target of rapamycin, Sek, Prospective Tissue Collection, p16(INK4a), Gene Variation Not Detected, Biopsies, BCC7, Progress Report, Illumina Sequencing, Tsc2/gig, Hormone Receptor Positive, Mbp-1, Comparison, NTef2, PNCA3, MEKK 1, Mutation Abnormality, MCAP, Poor, Field Reports, cancer of breast, INCREASED, Decipher, Exome, Ratios, Gene Mutation Detected, MLN19, Malignant Neoplasm Therapy, Procedure, prospective, MaGIC Risk, Cadherin, Next-Generation, ATRBR1, TKL, bfy, chromosome 20, fg, cdh1, MEK4, Neural Cadherins, DmelCG7413, Epithelial Cadherin, xAct, N Cadherins, Rapamycin and FKBP12 target 1, Field, signs, Metastatic Cancer to the Bone, INSDC_feature:gene, Methodological, breast neoplasm (disease), dTsc1, PKB/dAKT, dTsc2, MEKK, Genomic, N-Cadherins, High Throughput Sequencing, Characterized, Epithelial Cadherins, Prospective Collection, breast cancer, Treatment Outcome, primary tumor, Material, AGR, Breast Tumors, CG2684, bhy, Metastatic Tumor to the Bone, other neoplasm, INK4A, cbf-beta, RAC-ALPHA, 2310035O07Rik, CDHE, neurogenic locus notch protein 3, NBLST3, AW108046, GLM2, Effects, INK4, EDC4, AA420328, ATAKT1, treatment effect, CDH1, High-Throughput DNA, anticancer therapy, Epithelial-Cadherins, LFS1, Cav1.2, Therapy Effect, LARGE1, Next-Generation Sequencing, Human, Breast Malignant Tumor, L type, v-akt, BREAST NEOPL, Cek8, disease or disorder, breast tumor, SERK1, TOR, neoplasm, Mediator, Gene Variant Positive, Decipher Test, Ecad, NOTCH3, HCDH1, CBFB, Mammary Neoplasm, ORP-3, MDDGB6, Mammary Carcinoma, Mbc, 772, ERa, TPR, DmelCG5671, Odds, Stress-activated protein kinase kinase 1, DmelCG3000, Genome Profile, PERFORMED, ESR, FANCN, AKT, Malignant Tumor of Breast, Gene Variation Detected, Statistically Significant, xesr1, p19ARF, RNESTROR, Frap1, LAM, Decipher Metastasis Test, Cancer, NEU, Genomic Profile, ALK, Perform, whole blood, DAlk53, Frequently, FRAP1, genomic profile, Primary, DAKT1, FRAP2, \"breast tumor\" EXACT [NCI2004_11_17:C2910], p19-lt-ARF-gt-, Exome Sequencing, dpten, TSC, PKB, DmelCG6975, Serk1, CWS6, CWS5, Have, CWS1, Neoplasm, Mutageneses, RAD31, Human Mammary Carcinoma, F18A8_2, NGL, CG4006, background, dPTEN, BC066140, SKK1, Placental Cadherins, RCD-8, Cross Product Ratio, Dakt1, Fxr, Mmac, Cancer Treatment, Information, Optimization, Increased, ESTRR, FZR2, Cancers, FRAP, Fyr, caPI3K, CLOVE, EEF1A2BP1, CT16317, like-glycosyltransferase, Reports, MTOR, AI893578, Cancer of Breast, biopsy, breast, High-Throughput Nucleotide, Fzr, JNKK 1, MTS1, PRKMK4, determination, Massively-Parallel, Frequent, 1200014M06Rik, Significant, Mbp1, mammary neoplasm, PI3K, Pctr1, ER[a], fzr, Driver Device, CD340, Odds Ratios, High-Throughput RNA Sequencing, tumor of the breast, HER-2 Negative, diseases, \"neoplasm of breast (disorder)\" EXACT [SNOMEDCT_2005_07_31:126926005], SRXY6, rb, diseases and disorders, ARF, cytopathology, Effect, Summary Reports, IMDC Poor, maternal, malignant neoplasm of breast, WXS (whole exome sequencing), pp110, dtor, Context, neoplasm of breast, Progress, MEKK1, INT3, Methodological Studies, breast neoplasm, l(1)G0326, pebp2b, CADASIL, Malignancies, CG7413, Mekk1, Neural Cadherin, mammary cancer, Gata-3, MCMTC, CD324, somatic mutation, dTor, Mechanistic target of rapamycin, Carcinoma, retinoblastoma-related 1, JNK kinase 1, HEDL5, dakt, rbf1, MELC-CC, l(3)89Bq, RETINOBLASTOMA 1, hereditary retinoblastoma, Significance, HCDH, Poverty, PKB/AKT, Screenings, dAkt, Investigative Report, Primary Neoplasm, MDDGA6, Diseases, Decipher Prostate Cancer Test, Genetic Materials, NOS, CG6147, Ion Torrent, HEDLS, Genetic Material, RAPT1, acetylglucosaminyltransferase-like 1A, l(3)04226, pRb, DPKB, Estrogen Receptor and/or Progesterone Receptor Positive, Inclusion, gyltl1b, Genomic Test, Mutated, Driver, Risk, Cadherin-2, Cadherin-1, Cadherin-3, TOKELAU, MULCHANDANI-BHOJ-CONLIN syndrome, mdc1d, HDR, tsc2, tsc1, LARGE_HUMAN, PEBP2b, v-akt1, Identified, p105-Rb, metastatic, c-Jun N-terminal kinase kinase 1, Patient, L-CAM, Horka, Gene Mutation Positive, Fs(3)Horka, Cistron, genetic profile, isoform 1, IMDC Poor Risk, PEBP2B, RBF1, ER and/or PR +, Uvomorulin, esr1, other disease, Ge-1, MAPKK4, FBF, Material Identification, CG6181, CG5092, dTSC-1, Benign Neoplasm, Cancer Therapy, RGD1309136, Gene, Compare, SAD3, autosomal dominant, Illumina, froggy, MHAM, ORP3, GE-1, eye cancer, hedls, TSC2, TSC1, Therapy Outcome, dock180, dFZR, Massively Parallel Sequencing, TSC4, JNKK1, SEK1, Neural, DmelCG8274, WES, Genetic, Malignancy, F18A8.2, HER-2, Cadherin 1, HER2/Neu Negative, Cadherin 3, Cadherin 2, ERalpha, FDR, RELATIVE, flat, LARGE, Positive Surgical Margin, Cancer of the Breast, non-neoplastic, hpbk, BPFD#36, Trp53, Ink4a|Arf, ESR1, Gene Mutant Positive, CMM2, High-Throughput, Gene Amplification, Rap/Fzr, mammary tumor, treatment_outcome, ESRA, DmelCG8250, breast tumour, 6330412C24Rik, Placental, mKIAA3023, p110, FRAP/TOR, Cistrons, Client, cardiac muscle, Cross-Product Ratios, Mammary Carcinomas, Ink4a/Arf, D-Akt, focal, rare (European definition), techniques, LCAM, MAPK|ERK kinase 4, c-erbB-4, SAPK|ERK kinase 1, scale, akt1, dAkt1, 2900005C20Rik, AIMS, CT24745, Rapamycin target protein 1, MBC/DOCK180, SAPKK-1, Gene Variation Positive, Rb1, False Discovery Rate, DEC, anon-WO03040301.193, Su(rac)1, Mediated, 2.7.12.2, PKBalpha, RETINOBLASTOMA-RELATED PROTEIN 1, RETINOBLASTOMA-RELATED, International Metastatic Renal Cell Carcinoma Database Consortium (IMDC) Criteria - Poor-Risk Group, Inclusive, Rac, assay, D930026N18Rik, Gene Amplification Technique, RbF, Total, Genome, HER2, HER4, glycosyltransferase-like protein LARGE1, Positive Margins"],"additional_accession":[]},"is_claimable":false,"name":"Whole-exome sequencing of breast cancer metastasis and corresponding blood samples","description":"This study included samples from metastatic breast cancer patients who underwent a biopsy in the context of SAFIR01 (NCT01414933), SAFIR02 (NCT02299999), SHIVA (NCT01771458) and MOSCATO (NCT01566019) prospective trials. These French multicentre trials used high throughput genome analysis on fresh frozen tumor biopsies as a therapeutic decision tool for metastatic cancer patients, with solid cancers (SHIVA, MOSCATO) or specifically with breast cancer (SAFIR01, SAFIR02). All patients gave their informed consent for translational research and genetic analyses of their somatic DNA. Overall, whole-exome sequencing for a total of 216 pairs of metastatic tumor and unmutated DNA derived from corresponding blood samples was performed using Illumina technology.  The results of the analysis of the mutational profile of metastatic breast cancer was reported in Lefebvre et al. (PMID:28027327).","dates":{"updated":"2017-07-26 15:39:29"},"accession":"EGAS00001001695","cross_references":{"TAXONOMY":["9606"],"pubmed":["28027327"],"EGA":["EGAD00001002747","EGAC00001000434"]}}