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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)).
A cancer syndrome or family cancer syndrome is a genetic disorder in which inherited genetic mutations in one or more genes predisposes the affected individuals to the development of cancers and may also cause the early onset of these cancers. Although cancer syndromes exhibit an increased risk of cancer, the risk varies.
Illustration of how a normal cell is converted to a cancer cell, when an oncogene becomes activated. An oncogene is a gene that has the potential to cause cancer. [1] In tumor cells, these genes are often mutated, or expressed at high levels. [2]
Mutations are the immediate cause of cancer and define the tumor phenotype. Access to cancerous and normal tissue samples from the same patient and the fact that most cancer mutations represent somatic events, allow the identification of cancer-specific mutations. Cancer mutations are cumulative and sometimes are related to disease stage.
A hereditary cancer syndrome (familial/family cancer syndrome, inherited cancer syndrome, cancer predisposition syndrome, cancer syndrome, etc.) is a genetic disorder in which inherited genetic mutations in one or more genes predispose the affected individuals to the development of cancer and may also cause early onset of these cancers.
Mutated p53 is involved in many human cancers, of the 6.5 million cancer diagnoses each year about 37% are connected to p53 mutations. [30] This makes it a popular target for new cancer therapies. Homozygous loss of p53 is found in 65% of colon cancers, 30–50% of breast cancers, and 50% of lung cancers.
However, such germline mutations (which cause highly penetrant cancer syndromes) are the cause of only about 1 percent of cancers. [ 113 ] In sporadic cancers, deficiencies in DNA repair are occasionally caused by a mutation in a DNA repair gene but are much more frequently caused by epigenetic alterations that reduce or silence expression of ...
CHRPE is associated with: mutations between codons 311 and 1444; whole APC gene deletions. Thyroid cancer and FAP: In 24 individuals, the majority of mutations identified were 5' to codon 1220 [Cetta et al. 2000]; 9 of 12 individuals had APC mutations identified proximal to the mutation cluster region (codons 1286–1513).
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