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Historically, cancer genome sequencing efforts has been divided between transcriptome-based sequencing projects and DNA-centered efforts. The Cancer Genome Anatomy Project (CGAP) was first funded in 1997 [10] with the goal of documenting the sequences of RNA transcripts in tumor cells. [11]
Gene expression profiling is a technique used in molecular biology to query the expression of thousands of genes simultaneously. While almost all cells in an organism contain the entire genome of the organism, only a small subset of those genes is expressed as messenger RNA (mRNA) at any given time, and their relative expression can be evaluated.
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.
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression , or through biochemical analysis to measure specific protein output. [ 1 ]
Whole-genome sequencing investigations have been performed on ctDNA present in different patients with treatment-resistant prostate cancer (the vast majority, and in some cases, metastatic), bladder cancer and control patients who did not present this DNA, including somatic mutations and structural rearrangements in their genomes.
The central role of DNA damage and epigenetic defects in DNA repair genes in carcinogenesis. DNA damage is considered to be the primary cause of cancer. [17] More than 60,000 new naturally-occurring instances of DNA damage arise, on average, per human cell, per day, due to endogenous cellular processes (see article DNA damage (naturally occurring)).
The majority of cfDNA research is focused on DNA originating from cancer . In short, the DNA from cancer cells gets released by cell-death, secretion or other mechanisms still not known. [41] The fraction of cfDNA released by tumor cells in circulation is influenced by the size of the tumor as well as the tumor stage and type.
Increased DNA damage tends to cause increased errors during DNA synthesis, leading to mutations that can give rise to cancer. If hypermethylation of a DNA repair gene is an early step in carcinogenesis, then it may also occur in the normal-appearing tissues surrounding the cancer from which the cancer arose (the field defect ).
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