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Genetics
Cancer genetics 2
15
Other
Graduate
03/26/2009

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Term
BRCA-1
Definition
located on chromosome 17q21
50% of autosomal dominant familial breast cancer
Also Increased risk of epithelial ovary cancers, prostate and colon cancers
Term
BRCA-2
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
Term
Gardner Syndrome
Definition
is an allelic subvariant – also develop osteomas of the jaw and desmoids (tumors in the muscle of the abdominal wall)
Term
Familial adenomatous polyposis
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
Term
free b-catenin
Definition
In familial polyposis coli Loss of APC  accumulation of ?
Term
HNPCC
Definition
AD
Onset during early adulthood without the characteristic adenomatous polyps of FAP
Term
DNA mismatch repair
Definition
HNPCC Gene products participate in ?
Term
Fanconi Anemia
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
Term
FAS (TNFRSF6 ) receptor and ligand
Definition
In hereditary lymphoma the primary abnormality : loss of function of lymphocyte apoptosis mediated by
Term
RER+ phenotype
Definition
Most sporadic colon cancers have no
Term
CGH
Definition
is used to analyze tumor tissues without having to propagate the tumor cells themselves for karyotyping
Term
Homologous staining regions (HSR)
Definition
These do not band normally and contain multiple, amplified copies of a particular DNA segment
Term
MYCN proto-oncogene for n-myc
Definition
Amplification of ?is a clinical indicator for prognosis in the childhood cancer neuroblastoma
Term
gene expression profile
Definition
Measurement of mRNA expression of a sample
Term
clustering
Definition
Grouping genes by their patterns of expression across samples
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