Chapter 23 - Cancer Genetics Flashcards
__ is a disease that is not inherited, but some __ are associated with certain chromosomal __; and some __ occur at higher __ in some families.
Cancer; cancers; abnormalities; cancers; frequencies.
What does it mean that cancers are “multiple hit” events? What case ‘bends’ this rule?
Cancers are the result of two or more mutations.
Someone that inherits one mutation is half way to developing cancer which is why some families have higher frequencies.
Why does cancer affect most people later in life?
Cancer results from “multiple hit” events, and these events tend to accumulate over time (rather than spontaneously appear rapidly).
Many cancer cells are __ due to defects in chromosome segregation during mitosis.
aneuploid
The first mutation of a cell usually results in a cell being predisposed to __ at an abnormally high rate. The second mutation causes rapid __. The third mutation causes __ changes to the cell. A forth mutation causes the cell to __ uncontrollably and __ other tissues.
proliferate.
division.
structural.
divide; invade.
Dominant mutations that stimulate cell divisions are called __ (__-__ are the normal cellular counterparts).
oncogenes; proto-oncogenes
__ tend to be dominant because one copy of the gene is sufficient to cause excessive cell proliferation.
Oncogenes
__-__ genes inhibit cell division. Because only one functional copy of the gene is needed for the wt phenotype, mutations leading to cancer are __ (unless the gene is __).
One example is the __-_ gene; this gene’s product functions to prevent cells from progressing through the cell __ if conditions aren’t appropriate.
Tumor-suppressor; recessive; haploinsufficient
Rb-1; cycle
Recessive-acting mutations in __-__ genes require a mutation in __ alleles OR a mutation and a __.
tumor-suppressor; both; deletion
__ is a rare childhood cancer that is inherited as an autosomal __ mutation. Cells from these patients always show that __ alleles are mutated, so it is __ at the molecular level. It ‘appears’ to be an autosomal __ mutation because there is a 100% chance of developing a __ mutation in at least one __ cell.
Retinoblastoma; dominant.
both; recessive.
dominant; spontaneous; retinal
Contributors to cancer include defects in DNA __; mutations affecting chromosome __; mutations affecting DNA __ (and thereby gene expression); mutations in genes for __ (enzyme); and affects on __ (vessel formation) and __ (spreading).
repair; segregation; methylation; telomerase; vascularization; metastasis
Many tumors show a wide range of inhibition of __ activity (these are needed for degrading __ or interfering with their __). This may allow __ to be expressed at higher levels.
microRNA; mRNA; translation.
oncogenes
CML often involves a reciprocal __ between chromosome __ and __. This causes a fusion between the BCR gene (chromosome __) to a portion of c-ABL (chromosome __) - this chromosome is often referred to as the __ chromosome. The fusion protein is more active in stimulating cell __ and eventually leads to CML.
tranlocation; 22; 9.
22; 9.
Philadelphia.
proliferation.
Burkitt Lymphoma is due to over expression of c-Myc normally found on chromosome __; but translocated onto chromosome __.
8; 14
Viruses can mutate and rearrange __-__ to create __. They can also alter the expression of host genes because viral genes often have strong __.
proto-oncogenes; oncogenes.
promoters