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Other inherited tumor suppressor gene syndromes include Rb mutations, linked to retinoblastoma, and APC gene mutations, linked to adenopolyposis colon cancer. Adenopolyposis colon cancer is associated with thousands of polyps in colon while young, leading to colon cancer at a relatively early age.
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.
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.
Typically, many genetic changes are required before cancer develops. [11] Approximately 5–10% of cancers are due to inherited genetic defects. [12] Cancer can be detected by certain signs and symptoms or screening tests. [2] It is then typically further investigated by medical imaging and confirmed by biopsy. [13]
Cancer caused by a mutated gene inherited from an individual's parents is a hereditary cancer rather than a sporadic cancer. Because humans have a diploid genome, each cell has two copies of the gene (one from each biological parent).
Gene duplication: If one cell has more copies of a gene than another, that cell may produce too much of a certain protein. The first human oncogene (HRAS), a crucial finding in the field of cancer research, was discovered more than 40 years ago, and since then, the number of novel pathogenic oncogenes has increased steadily.
A genetic blood test of the APC gene exists that can determine whether it is present, and therefore can predict the possibility of FAP. Individuals at risk (due to family links or genetic testing) are usually offered routine monitoring of the intestinal tract every 1–3 years for life, from puberty for FAP and early adulthood for attenuated forms.
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.