Term
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Definition
located on chromosome 17q21
50% of autosomal dominant familial breast cancer
Also Increased risk of epithelial ovary cancers, prostate and colon cancers |
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Term
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Definition
located on chromosome 13q12.3
33% of autosomal dominant familial breast cancer
Increased chance of male breast cancer (10-20% of all)
Cancers of ovary, melanomas and pancreatic tumors |
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Term
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Definition
| is an allelic subvariant – also develop osteomas of the jaw and desmoids (tumors in the muscle of the abdominal wall) |
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Term
| Familial adenomatous polyposis |
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Definition
Autosomal Dominant
Heterozygotes have numerous benign growths (adenomatous polyps) by the age of 20
Almost invariably one or more polyps become malignant colon cancer
Colectomy (removal of colon) prevents development of malignancies |
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Term
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Definition
| In familial polyposis coli Loss of APC accumulation of ? |
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Term
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Definition
AD
Onset during early adulthood without the characteristic adenomatous polyps of FAP |
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Term
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Definition
| HNPCC Gene products participate in ? |
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Term
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Definition
Autosomal recessive disorder
Characterized by
Diverse congenital malformations involving skeletal system, genitourinary tract, gastrointestinal, heart, central nervous system
Bone marrow failure
Malignancy particularly acute myelogenous leukemia (AML)
Difficult to diagnose clinically due to variable expressivity
Diagnosis based on
Hypersensitivity of FA cells to clastogenic effect (chromosome breaking) of crosslinking agents like diepoxybutane |
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Term
| FAS (TNFRSF6 ) receptor and ligand |
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Definition
| In hereditary lymphoma the primary abnormality : loss of function of lymphocyte apoptosis mediated by |
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Term
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Definition
| Most sporadic colon cancers have no |
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Term
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Definition
| is used to analyze tumor tissues without having to propagate the tumor cells themselves for karyotyping |
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Term
| Homologous staining regions (HSR) |
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Definition
| These do not band normally and contain multiple, amplified copies of a particular DNA segment |
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Term
| MYCN proto-oncogene for n-myc |
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Definition
| Amplification of ?is a clinical indicator for prognosis in the childhood cancer neuroblastoma |
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Term
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Definition
| Measurement of mRNA expression of a sample |
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Term
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Definition
| Grouping genes by their patterns of expression across samples |
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