Term
familial (hereditary) cancer |
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Definition
cancers that arise as a result of an inherited mutation that created a predisposition to developing cancer. |
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containing two sets of chromosomes and therefore two copies of each gene; can describe a cell, nucleus, or organism composed of such cells. |
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any of the alternative forms of a given gene, differing from each other in base sequence. |
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having two different alleles for a given gene. |
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Definition
pattern of inheritance in which a given gene (allele)determines how the trait will appear in an organism only when the gene is present in the homozygous form; masked by a dominant allele when heterozygous. |
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rare cancer of young children that arises in the light-absorbing retinal cells located at the back of the eye, about 40% of cases involve a hereditary predisposition created by ingeritance of a single defective or deleted copy of the RB gene. |
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Definition
tumor suppressor gene coding for the Rb protein. |
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familial adenomatous polyposis |
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Definition
ingerited condition in which numerous polyps develop in the colon, eventually leading to cancer; caused by inheritance of a single defective or missing copy of the APC gene. |
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Definition
susceptibility to a broad range of cancers caused by inheritance of a single missing or defective copy of the p53 gene. |
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Definition
class of tumor suppressor genes that are directly involved in restraining cell proliferation; loss-of-function mutation in such genes can lead to excessive cell proliferation and tumor formation. |
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total genetic information of a virus, cell, or organism. |
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DNA repair mechanism that removes and replaces abnomal nucleotides. |
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DNA repair mechanism that detects and corrects base pair that are improperly hydrogen bonded. |
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Definition
inherited syndrome characterized by loss of coordination, dilation of small blood vessels, immune system deficiencies, and roughly a 40% risk of developing cancer; caused by inheritance of two mutant alleles of the ATM tumor suppressor gene, which codes for a protein kinase involved in the DNA damage response. |
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Definition
network of cellular pathways invoked as a protective response to assaults on DNA integrity. |
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inherited syndrome characterized by an inability of the bone marrow to produce a sufficiet number of blood cells, accompanied by skeletal malformations, organ deformities, reduced fertility, and marked predisposition to developing leukemias and squamous cell carcinomas; caused by inheritance of two mutant alleles of any of at least 11 different tumor suppressor genes coding for proteins involved in DNA damage response pathways. |
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proto-oncogene that codes for a growth gactor receptor present on the surface of endocrine cells; inheritance of a single mutant copy is responsible for multiple endocrine neoplasia type II. |
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Definition
normal cellular gene that can be converted into an oncogene by point mutation, gene amplification, chromosomal translocation, local DNA rearrangement, or insertional mutagenesis. |
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