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Cancer stem cell arises by clonal evolution as a result of selection for the cell with the highest fitness in the neoplasm. This way, the heterogeneous nature of neoplasm can be explained by two processes – clonal evolution, or the hierarchical differentiation of cells, regulated by cancer stem cells. [ 87 ]
Oncogenomics is a sub-field of genomics that characterizes cancer-associated genes.It focuses on genomic, epigenomic and transcript alterations in cancer. Cancer is a genetic disease caused by accumulation of DNA mutations and epigenetic alterations leading to unrestrained cell proliferation and neoplasm formation.
Pan-cancer studies aim to detect the genes whose mutation is conducive to oncogenesis, as well as recurrent genomic events or aberrations between different tumors.For these studies, it is necessary to standardize the data between multiple platforms, establishing criteria between different researchers to work on the data and present the results.
A major goal of cancer genome sequencing is to identify driver mutations: genetic changes which increase the mutation rate in the cell, leading to more rapid tumor evolution and metastasis. [32] It is difficult to determine driver mutations from DNA sequence alone; but drivers tend to be the most commonly shared mutations amongst tumors ...
Crosslinking is a pivotal step of the chromatin capture workflow as the functional readout of the technique is the frequency at which two genomic regions are crosslinked to each other. [4] Thus, the standardization of this step is important and for that, one must consider potential sources of variation. [4]
Allele frequency, or gene frequency, is the relative frequency of an allele (variant of a gene) at a particular locus in a population, expressed as a fraction or percentage. [1] Specifically, it is the fraction of all chromosomes in the population that carry that allele over the total population or sample size.
BRCA-related breast cancer appears at an earlier age than sporadic breast cancer. [9]: 89–111 It has been asserted that BRCA-related breast cancer is more aggressive than normal breast cancer, however most studies in specific populations suggest little or no difference in survival rates despite seemingly worse prognostic factors.
There are a large number of statistical methods for testing whether neutral theory is a good description of evolution (e.g., McDonald-Kreitman test [20]), and many authors claimed detection of selection.