Tumor invasion vs metastasis
Invasion: first step; local spread; possibly by direct extension
-Metastasis: spread to distant tissues/organs, contributes to S/S of cancer
Metastasis requisites
Must be able to invade blood and lymph vessels (neoangiogenesis and lymphangiogenesis)
-Must survive...
NSG 533 EXAM 2
What is genetics?
Study of inherited traits and variations; examination of a particular/small group of
gene(s); focused/individual picture
What is genomics?
Total genetic composition of organism/species; analysis of entire species genome;
broad view
Gene
Basic unit of heredity that codes for specific protein leading to a characteristic or
function
Allele
One version of a gene at a given location along a chromosome
Mutant alleles
Can be:
-disease causing mutations
-polymorphism (alterations with normal gene function)
-variant of unknown significance
Phenotype
,Observable physical / biochemical characteristics of gene expression; clinical
presentation
Variability is a good reason because
-maintains robust population
-homogeneity weakens d/t inability to adapt
-may leave it more vulnerable to others
Penetrance
Proportion of individuals with mutation who exhibit clinical symptoms
-Huntington's = 100% penetrance
Consanguinity
Genetic relatedness between individuals descending from at least one common
ancestor
-Increases autosomal recessive diseases
Anticipation
Tendency for disorders in successive generations to present at an earlier age and/or
with more severe manifestations
Mosaicism
Occurrence of two or more cell lines with different genetic or chromosomal
constitutions
Gene Deletion
, Absence of a DNA segment; likely most critical d/t loss of genetic material
Gene Duplication
Presence of an extra DNA segment resulting in redundant portions, an entire gene, or
a series
-caused by unequal crossing-over during gene replication
Gene Inversion
Chromosomal rearrangement; segment has inverted and reinserted at the same
breakage site
-balance: usually no abnormalities
-unbalanced: almost always abnormal
Gene Translocation
Chromosomal alteration; whole/segment chromosome becomes attached or
interchanged with another whole/segment chromosome
Gene Mutation
Any alteration in a gene from its natural state; disease causing or benign
Autosomal dominant
Phenotype expressed in those who only have one copy of gene mutation
Autosomal recessive
Phenotype expressed in those who have two copies of gene mutation
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