EGAGenomicsExome Sequencinghttps://ega-archive.org/studies/EGAS00001006456EGAEGA study EGAS00001006456WES of breast and larynx cancer casesEGArestrictedmamma, NEOPL LARYNGEAL, mammary region, Cancer of Larynx, Breasts, larynx neoplasm, determination, Laryngeal Cancer, Neoplasms, Larynx Neoplasms, larynx tumor, Lactiferous gland, malignant laryngeal neoplasm, Laryngeal Cancers, neoplasm of the larynx, tumour of the larynx, tumour of larynx, Brustdruese, tumor of larynx, glandula mammaria, School-Age, Laryngeal Neoplasms, cancer of larynx, larynx tumour, School Age, Lobe of mammary gland, chemical analysis, Neoplasm, neoplasm of larynx, malignant tumour of larynx, Laryngeal, Cancer of the Larynx, malignant larynx tumour, larynx cancer, malignant laryngeal tumor, School Age Populations., School-Age Populations, Populations, Larynx Cancer, malignant neoplasm of the larynx, larynx neoplasm (disease), Lobe of breast, mammary part of chest, malignant tumor of the larynx, malignant larynx tumor, malignant tumor of larynx, LARYNGEAL NEOPL, tumor of the larynx, laryngeal neoplasm, Cancers, Population, Larynx, malignant laryngeal tumour, Larynx Cancers, laryngeal tumor, malignant larynx neoplasm, malignant neoplasm of larynx, assay, Larynx Neoplasm, Laryngeal Neoplasm, School-Age Population, School Age Population, malignant tumour of the larynx, LARYNX NEOPL, breast, laryngeal tumour, CancerNEOPL LARYNGEAL, mammary region, d230, Breasts, Node, DNS, Activity, (Deoxyribonucleotide)n, determination, Laboratory, Metastasis, Feature, Neoplasms, Larynx Neoplasms, number, larynx tumor, Lactiferous gland, malignant laryngeal neoplasm, dTAFII250, Neoplasm Metastases, neoplasm of the larynx, neoplasm metastasis, EfW1, tumor of larynx, glandula mammaria, Deoxyribonucleic acids, cancer metastasis, Human, dmTAF[[II]]230, Deoxyribonucleic Acid, primary tumour, dmTAF1, Taf230, Lymph Nodes, Republic of Poland, malignant tumour of larynx, Mutations., Research Activity, Laryngeal, Laboratory Research, Cancer of the Larynx, malignant larynx tumour, TAF250, Polish People's Republic, Lymph, Priorities, malignant laryngeal tumor, tumor cell migration, Taf200, thymus nucleic acid, dTAF[[II]]250, lateral shoot, pattern, TFIID TAF250, cel, Research, occurrence, cell, distribution, larynx neoplasm (disease), mammary part of chest, Tissue, prevalence, malignant larynx tumor, Double Stranded, Taf1p, Sciences, metastasis, Deoxyribonucleic acid, Larynx, paired, malignant laryngeal tumour, dTAF250, Larynx Cancers, site, malignant neoplasm of larynx, Double-Stranded DNA, Characteristics, Development and Research, (Deoxyribonucleotide)m, genomic copy number variation, Research Priority, deoxyribonucleic acids, DNAn, TAF, axillary shoot, tumor metastasis, malignant tumour of the larynx, incidence, laryngeal tumour, Cancer, mamma, Cancer of Larynx, dTAF[[II]]230, TAF[[II]]250, larynx neoplasm, Data Set, Laryngeal Cancer, DNAn+1, Metastases, frequency, TAF200, l(3)84Ab, Research Priorities, copy number variation, Laryngeal Cancers, tumour of the larynx, tumour of larynx, BG:DS00004.13, Double-Stranded, TAFII-250, Genetics, CG17820, TAF250/230, Brustdruese, Cell, predicted, dTAF230, (Deoxyribonucleotide)n+m, Literatures, Metastase, Laryngeal Neoplasms, TAFII250, DmelCG17820, Priority, Characteristic, cancer of larynx, larynx tumour, p230, Lobe of mammary gland, chemical analysis, Research Activities, Neoplasm, neoplasm of larynx, TAF[[II]]250/230, TFIID, simple tissue, background, ds-DNA, desoxyribose nucleic acid, outbreaks, region, larynx cancer, Research and Development, Taf[[II]]250, Larynx Cancer, TAF[[II]]230, malignant neoplasm of the larynx, Lymph Node, primary neoplasia, Lobe of breast, malignant tumor of the larynx, malignant tumor of larynx, LARYNGEAL NEOPL, TAF[II]250, tumor of the larynx, laryngeal neoplasm, Cancers, Features, CG17603, TAF[[II]], surveillance, morbidity, endemics, introduction, Activities, metastatic, DmelCG17603, laryngeal tumor, Taf250, primary tumor, SR3-5, malignant larynx neoplasm, ds DNA, Nodes, cardinality, Desoxyribonukleinsaeure, lymph gland, epidemics, Larynx Neoplasm, Laryngeal Neoplasm, assay, DNA, LARYNX NEOPL, breast, TAF230, TAF1falseGenomic analysis and evolutionary modeling of breast and larynx cancer, based on specimens from Polish populationWe explore the genomic characteristics of the original dataset of breast and larynx cancer specimens of several cell types from the collection of the Department of Applied Radiology of the Maria Sklodowska-Curie National Research Institute of Oncology, Krakow (Poland) Branch and Institute of Human Genetics Polish Academy of Sciences. DNA from paired tissue samples from primary tumor locations and concurrent metastasis to regional lymph nodes was sequenced and matched to controls. A range of genomic analyses was carried out, such as estimation of variant allele frequencies (VAF) and copy number variation (CNV). They show that subsets of variants from primary tumors are present in metastatic lymph nodes and that the CNV pattern is similar, but not identical to that known in the literature. In addition to that, we fit the VAF data to theoretical site frequency spectra predicted by multiple models found in the literature. Analysis suggests existence of secondary advantageous subclones arising on the clonal background as well as of a number of neutral or slightly deleterious passenger mutations.2022-07-27 15:36:28EGAS000010064569606EGAD00001009081EGAC00001002785