{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"technology_type":["Illumina HiSeq 2000, Illumina HiSeq 2500, ILLUMINA"],"study_type":["Other"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001002186"],"host":["EGA"],"description":["EGA study EGAS00001002186"],"dataset_title":["Sequencing .bam files"],"repository":["EGA"],"category":["restricted"],"pubmed_abstract":["The extent of heterogeneity among driver gene mutations present in naturally occurring metastases-that is, treatment-naive metastatic disease-is largely unknown. To address this issue, we carried out 60× whole-genome sequencing of 26 metastases from four patients with pancreatic cancer. We found that identical mutations in known driver genes were present in every metastatic lesion for each patient studied. Passenger gene mutations, which do not have known or predicted functional consequences, accounted for all intratumoral heterogeneity. Even with respect to these passenger mutations, our analysis suggests that the genetic similarity among the founding cells of metastases was higher than that expected for any two cells randomly taken from a normal tissue. The uniformity of known driver gene mutations among metastases in the same patient has critical and encouraging implications for the success of future targeted therapies in advanced-stage disease."],"pubmed_title":["Limited heterogeneity of known driver gene mutations among the metastases of individual patients with pancreatic cancer."],"pubmed_authors":["Makohon-Moore Alvin P AP, Zhang Ming M, Reiter Johannes G JG, Bozic Ivana I, Allen Benjamin B, Kundu Deepanjan D, Chatterjee Krishnendu K, Wong Fay F, Jiao Yuchen Y, Kohutek Zachary A ZA, Hong Jungeui J, Attiyeh Marc M, Javier Breanna B, Wood Laura D LD, Hruban Ralph H RH, Nowak Martin A MA, Papadopoulos Nickolas N, Kinzler Kenneth W KW, Vogelstein Bert B, Iacobuzio-Donahue Christine A CA"],"name_synonyms":["Carcinoma, NEOPL PANCREATIC, Malignant Neoplasm, Neoplasms, malignant neoplasm of body of pancreas, pancreatic neoplasm, familial, Benign Neoplasm, Pancreas Cancer, pancreas, Tumor, Malignant, Pancreas Cancers, Pancreas Neoplasm, Pancreatic Neoplasm, Ca tail of pancreas, Ca head of pancreas, Benign, Pancreatic Cancer, Neoplasm, Pancreatic Acinar, pancreatic carcinoma, increased risk of pancreatic cancer, PANCREATIC NEOPL, Pancreatic, Cancer of the Pancreas, Pancreatic Carcinomas, PANCREAS NEOPL, Carcinomas, malignant neoplasm of tail of pancreas, pancreatic tumor, Cancer of Pancreas, Malignancy, Pancreatic Carcinoma, malignant neoplasm of head of pancreas, Acinar Carcinoma, pancreatic cancer, Benign Neoplasms, Cancers, Pancreatic Cancers, Pancreas, Pancreatic Neoplasms, Pancreatic Acinar Carcinoma, Neoplasias, Ca body of pancreas, Malignancies, PNCA, Pancreas Neoplasms, Pancreatic Acinar Carcinomas, Neoplasia, Acinar Carcinomas, pancreatic tumour, pancreas neoplasm, Cancer, Tumors, Malignant Neoplasms."],"description_synonyms":["extent, 14.10, Therapy, other disease, Materials, Respect, completeness, developmental stage, Addresses, familial, disorders, Genome Sequencing, Gene, Cistrons, Client, Cell, predicted, metastatic neoplasm, Mutations, Personal, metastatic disease, Complete Genome, diseases, Diseases, 10.5, disease or disorder, Genetic Materials, condition, VI, diseases and disorders, simple tissue, Eve, even, EVE, Genetic Material, 10.9, treatment, average, 20.35, human disease, Complete, F, Whole Genome, Genetic, DmelCG2328, Complete Genome Sequencing, Dignity, Tissue, l(2)46Ce, INSDC_feature:gene, patient, V, Treatments, Sequencing, l(2)46Cg, l(2)46CFj, genetic, non-neoplastic, l(2)46CFh, disease, metastatic, Therapeutic, Patient, Material, l(2)46CFp, metastatic tumor, Clients, Whole, Personal Respect, heterogeneity, disease management, metastatic tumour, Therapies, eve2, disorder, Cistron, Treatment, Homo sapiens disease, medical condition., inherited genetic, stage, E(eve), constitutitional genetic, hereditary, l(2)46CFg, CG2328"],"pubmed_title_synonyms":["Carcinoma, Materials, NEOPL PANCREATIC, Neoplasms, malignant neoplasm of body of pancreas, pancreatic neoplasm, familial, Pancreas Cancer, Gene, pancreas, Cistrons, Client, Pancreas Cancers, Pancreas Neoplasm, Pancreatic Neoplasm, Mutations, Ca tail of pancreas, Ca head of pancreas, Pancreatic Cancer, Neoplasm, Genetic Materials, Pancreatic Acinar, pancreatic carcinoma, increased risk of pancreatic cancer, PANCREATIC NEOPL, Pancreatic, Cancer of the Pancreas, Genetic Material, Pancreatic Carcinomas, PANCREAS NEOPL, Carcinomas, malignant neoplasm of tail of pancreas, pancreatic tumor, Cancer of Pancreas, Genetic, Pancreatic Carcinoma, malignant neoplasm of head of pancreas, Acinar Carcinoma, pancreatic cancer, INSDC_feature:gene, Cancers, Pancreatic Cancers, Pancreas, Pancreatic Neoplasms, Pancreatic Acinar Carcinoma, pancreas neoplasm., Patient, Ca body of pancreas, Material, Clients, heterogeneity, Cistron, PNCA, Pancreas Neoplasms, Pancreatic Acinar Carcinomas, Acinar Carcinomas, pancreatic tumour, Cancer"],"pubmed_abstract_synonyms":["extent, other disease, Materials, NEOPL PANCREATIC, Respect, determination, Neoplasms, developmental stage, Addresses, Pancreas Cancer, Gene, pancreas, Pancreas Cancers, Pancreatic Neoplasm, Mutations, Personal, Ca tail of pancreas, Ca head of pancreas, diseases, Pancreatic Cancer, disease or disorder, Pancreatic Acinar, diseases and disorders, increased risk of pancreatic cancer, Pancreatic Carcinomas, PANCREAS NEOPL, treatment, average, human disease, Genetic, Genomes, Pancreatic Carcinoma, Acinar Carcinoma, Tissue, Pancreatic Cancers, genetic, non-neoplastic, Clients, Personal Respect, heterogeneity, disease management, Therapies, disorder, Homo sapiens disease, stage, constitutitional genetic, Pancreatic Acinar Carcinomas, pancreatic tumour, pancreas neoplasm, Cancer, Therapy, Carcinoma, completeness, malignant neoplasm of body of pancreas, pancreatic neoplasm, familial, disorders, Cistrons, Client, Pancreas Neoplasm, Cell, predicted, metastatic neoplasm, metastatic disease, chemical analysis, Diseases, Neoplasm, Genetic Materials, condition, pancreatic carcinoma, simple tissue, PANCREATIC NEOPL, Pancreatic, Cancer of the Pancreas, Genetic Material, Carcinomas, malignant neoplasm of tail of pancreas, pancreatic tumor, Cancer of Pancreas, malignant neoplasm of head of pancreas, Dignity, pancreatic cancer, INSDC_feature:gene, patient, whole genome, Cancers, Treatments, Pancreas, Pancreatic Neoplasms, Pancreatic Acinar Carcinoma, disease, metastatic, Therapeutic, Patient, Ca body of pancreas, Material, metastatic tumor, metastatic tumour, Cistron, Treatment, medical condition., inherited genetic, assay, PNCA, Pancreas Neoplasms, hereditary, Acinar Carcinomas"],"additional_accession":[]},"is_claimable":false,"name":"Sequencing of pancreatic cancer primary tumors and metastases","description":"The extent of heterogeneity of driver gene mutations present in naturally occurring metastases is largely unknown, i.e. treatment-naïve metastatic disease.  To address this issue, 60x whole genome sequencing of 26 metastases from 4 patients was carried out.  We found that the identical driver gene mutations were present in every metastatic lesion of each patient studied. Passenger gene mutations not known or predicted to have functional consequences accounted for all intratumoral heterogeneity. Even with respect to these passenger gene mutations, the genetic similarity among the founding cells of metastases was markedly higher than that expected for any two cells randomly taken from a normal tissue.  The uniformity of driver gene mutations among metastases in the same patient has critical, encouraging implications for the success of future targeted therapies in advanced stage disease.","dates":{"updated":"2017-07-26 15:39:29"},"accession":"EGAS00001002186","cross_references":{"TAXONOMY":["9606"],"pubmed":["28092682"],"EGA":["EGAD00001003153","EGAC00001000588"]}}