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142 Cards in this Set
- Front
- Back
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Any inherited alteration of genetic material. OR Chromosome changes causing congenital defects. Can be favorable or unfavorable.
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Mutation
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Agents known to increase the frequency of mutations. i.e: ionizing radiation, viruses, UV
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Mutagens
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One base pair is replaced by another. Can change the amino acid sequence.
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Base-pair substitution
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If an amino acid change does not occur, it is called a ___?
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Silent Substitution
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Insertion or deletion of one or more base pairs in the DNA molecule.
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Frame-shift Mutation
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What are all the trillions of cells that make up almost all of our body..other than specialized sex cells (gametes). Formed by the processes of mitosis and cytokineses?
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Somatic Cells
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Sperm and egg, oocyte cells) They are haploid cells (23 chromosomes) formed by meiosis.
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Gametes
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An ordered display of chromosomes is called a ______?
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Karyotype
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What phase of cell division is a Karyotype image taken?
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Metaphase
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What is the longest and shortest chromosomes?
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Chromosome 1 is the longest.
Chromosome 22 is the shortest. |
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Nearly identical chromosomes.
The two chromosomes that pair during meiosis. Each member of a pair is inherited from one parent. |
Homologous Chromosomes
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Non-Identical chromosomes
An example would be chromosomes 9-22 |
Non-Homologous
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In humans, 22 of the 23 Homologous chromosome pairs are called?
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Autosomes
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The remaining 23rd pair of chromosomes are called?
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Sex Chromosomes
Male XY Female XX |
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What are 2 ways to detect chromosomal aberrations?
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Amniocentesis
Chorionic villi sampling |
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Cells that have normal number/set of chromosomes are?
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Euploid Cell
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When a euploid cell has more than the diploid number, it is called a?
Always divisible by 23 |
Polyploid Cell
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Fetuses that have 3 copies of each chromosome (69 total)
Cannot survive |
Triploid
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Fetuses that have four copies of each (92 each)
Cannot survive. |
Tetraploid
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A somatic cell that does not contain an exact multiple of 23 chromosomes is an _____?
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Aneuploidy Cell
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A cell containing three copies of on of the chromosome "pairs" is said to be?
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Trisomic or Trisomy Cell
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A type of Aneuploidy that is more often lethal, but some infants can survive with trisomy of a certain chromosome.
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Monosomy Cell
"it's better to have extra than less" |
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What causes Aneuploidy?
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Nondisjuction
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Failure of chromosomes to separate properly. Results in one daughter cell receiving both chromosomes and the other receiving neither.
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Nondisjuction
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Monosomy and trisomy are the result of this.
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Nondisjunction
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Trisomy 13
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Patau
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Trisomy 18
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Edward
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Trisomy 21
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Down's Syndrome
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When a chromosome has multiple copies of alleles. Some turn on and some don't. (calico cat example) Caused by early mitoitic non-disjunction
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Mosaicism
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Mentally retareded, low nasal bridge epicanthal folds, protruding tongue, poor muscle tone.
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Down Syndrome
Trisomy 21 |
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What causes sex chromosome aneuploidy?
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Multiple copies of XX or XY chromosomes.
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What is the most common form of sex chromosome aneuploidy?
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Trisomy X (47, XXX)
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What are the the symptoms of Trisomy X (47, XXX)
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Sterility, menstrual irregularity, and/or mental retardation.
Symptoms worsen with each additional X. |
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What is cuased by (45,X) and has the following symptoms: Absence of ovaries (sterile), webbing of the neck, underdeveloped breasts; wide nipples, a high number of fetusus with a single x are aborted and the single X is usually inherited from the mother.
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Turner Syndrome
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Individulas with at least two X and one Y chromosome (XXY) and the following characteristics have what syndrome?
Male appearance, develop female-like breasts, small testes, sparse body hair and long limbs. Abnormalities will increase with each additional X |
Kleinfelter Syndrome
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Breakage, Deletions, Inversions, Duplications, Trans locations
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Chromosome Structure abnormalities.
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Agents of chromosome breakage, for example, Ionizing radiation, chemicals, and certain viruses are called.
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Clastogens
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Breakage resulting in Loss of DNA.
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Deletion
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Deletion of 5p and symptoms of cat-like cry, low birth weight , mental retardation, microcephaly.
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Cri du chat syndrome
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Breakage followed by a reversal of the fragment during re-insertion.
ACDEFGH may become ABEDCFGH |
Inversions
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Replication of a gene sequence resulting in an amino acid sequence being repeated multiple times.
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Duplications
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The interchanging of material between non-homologous chromosomes (13-14, 4-5).
Occurs when two chromosomes break and the segments are rejoined in an abnormal arrangement. |
Translocations
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A segment of DNA that codes for specific gene products.
Synthesis of these proteins will lead to expression of particular traits. |
Gene
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The location of a gene along a chromosome.
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Locus
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The genetic makeup of an organism.
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Genotype
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What they demonstrate. This can be a visible observation, or it can be tested for.
By observing some "blanks". you can't necessarily tell what the genotype is. |
Phenotype
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When both alleles of a particular gene on a pair of homologous chromosomes are identical. One allele is maternal, one is parternal
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Homozygous DD or dd
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A different form (or copy) of a particular gene. (Blood type is an example)
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Allele
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When the two alleles of a particular gene on a pair of homologous chromosomes are not identical.
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Heterozygous Dd
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An allele that is observable and one that is hidden is called? The are.
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Dominant (observable)
Recessive (hidden) |
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The percentage of individuals with a specific genotype who also express the expected phenotype.
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Penetrance
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Individual who has the gene for a disease but does not express the disease.
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Incomplete Penetrance
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The variable expression of the disease which is caused by modifier genes. Disease varies from spots on the skin to malignant neurofribromas, gliomas and neuromas. Same disease expressed in different ways.
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Expressivity
Von Recklinghausen Disease |
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Abnormal allele is dominant; normal allele is recessive, and the alleles exist on autosomes.
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Autosomal Dominant Diseases
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Abnormal allele is recessive and a person must be homozygous for the abnormal alleles to express the disease. The trait usually appears in children not the parents, and it affects the genders equally because it is present on a pair of autosomes.
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Autosomal Recessive Diseases
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Virtually all of these disorders are recessive
Examples of this are hemophilia A and red-green colorblindness. |
Sex-Linked (X-Linked) recessive
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Presently we know of only a few rare examples. Expression in both sexes, but with a greater incidence in females due to the greater number of X chromosomes in females.
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Sex-Linked (X-Linked) Dominant
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Usually the initial focus of the pedigree chart because they are the first in the family to be seen in a health care facility and diagnosed.
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Proband
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The probability (%) of a family with a specific genotype having a child with an expected phenotype.
Each birth mating pair is a coin toss. For single gene inheritance the recurrence risk remains constant. |
Recurrence Risk
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Autosomal Dominant with one diseased parent - 50%
Autosomal recessive with two carrier parents - 50% |
Recurrence Risk
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The number of new cases of disease reported during a specific period, usually one year.
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Incidence Rate
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The proportion of the population affected by a disease at a specific point in time.
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Prevalence Rate
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Traits involving multiple genes.
Hair color, height, eye color. |
Polygenic Traits
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Incidence rate of the disease among individuals exposed to the risk factor divided by the incidence
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Relative Risk
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This is responsible for the greatest number of individuals that will need special care or hospitalization because of genetic disease. i.e: Atopic reactons, diabetes, cancer, spinabifida/anencephaly, pyloric stenosis, cleft lip, cleft palate, congenital him dysplasia, club foot and a host of other diseases all result from this.
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Multifactorial inheritance
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A number of these follow a bell shaped curve distribution, because they are influenced by both environmental and genetic factors.
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Multifactorial Traits.
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Qualitative traits are not measured on a numeric scale. They are best explained by the?
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Threshold Model
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As the number of genetic and or environmental risk factors increases, so does the liability for the disease. When the liability is so great that it reaches a threshold, an abnormality, what we call disease, results.
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Liability Distribution
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This risk becomes higher if: More than one family member is affected, the expression of the disease in the proband is more sever, the proband is of the less commonly affected sex, the recurrence risk, decreases back toward that of the normal population, if the disease is expressed in more remotely-related relatives.
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Recurrence Risk
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The probability that a pair of individuals will both have a certain characteristic.
If both members of a twin pair share a trait it is called ______ trait |
Concordance Rate
Concordant Trait |
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If the numbers, when comparing Identical twins and fraternal twins are close it is an _________ cause.
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Environmental
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If the numbers, when comparing Identical twins and fraternal twins are farther apart it is a _________ cause.
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Genetic
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If a set of identical twins and a set of fraternal twins similarly express a disease, the disease is very likely _____________.
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Environmental
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IF a set of identical twins expresses a disease, and a set of fraternal twins does not, the disease is very likely _________.
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Genetic
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Diseases that are present at birth are called? They are also multifactorial.
Neural tube defects Pyloric Stenosis Birth defects cause by retinoic acid Cardiac Defects caused by rubella |
Congenital Diseases
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Coronary Artery Disease (CAD, CHD)
Potential myocardial infarction caused by atherosclerosis. |
Adult Multi-factorial Diseases
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T cell activation and sutoantibody production leads to autoimmune destruction of insulin-producing Beta cells in the pancreas.
Onset prior to 40 There are genes that increase the risk |
Type I Diabetes
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80-90% of all diabetes cases
Autoantibody production not commonly seen in this type of the disease. Patient has insulin resistance or diminished insulin production. |
Type II Diabetes
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Risk factors: high carbohydrate diet and obesity.
-90% MZ twin concordance -10-15% sibling recurrence risk |
Type II Diabetes
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Slow Growth, Encapsulated, Non-invasive, well differentiated, low mitotic rate, do not metastasize
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Benign Neoplasms
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Rapid growth, non-encapsulated, invade local structures and tissues, poorly differentiated, high mitotic rate, metastasize
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Malignant Tumor
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Epithelial tissue tumor.
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Carcinomas
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Connective tissue tumor
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Sarcomas
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Lymphatic tissue tumor
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Lymphosarcomas
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Pre-invasive epithelial malignant tumors.
The neoplasm is localized in the epithelium and has not broken through the basement membrane and invaded surrounding tissue. |
Carcinoma in situ
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Process by which a normal cell becomes a cancer cell.
Not a single event |
Transformation
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Loss of differentiation
Loss of organization |
Anaplasia
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Continued growth even when unattached from original tissue
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Anchorage-Independence
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Cells that display autonomy, which is the cancer cell's independence from normal cellular controls ; Cell cycle control, repair, cell growth factor receptors.
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Cancer Cells
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Biological markers produced by cancer cells.
Any kind of cellular product could qualify. Antigen, on a cancer cell membrane, an alteration of the genes or chromosomes in the nucleus could qualify. |
Tumor Marker
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If ________ leaks into the blood, CSF, or urine...or, if we could get a sample of the cells from the cancerous tissue and find a cancer-related substance, then we can use it to indicate the presence of cancer.
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Tumor Marker
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Used to:
Screen and ID individuals at high risk for Cancer Diagnose specific types of tumors Follow the clinical course of caner These often lack specificity, sensitivity, predictability, and feasibility. So there are few ideal ________. |
Tumor Markers
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_________ hormone production is the production of hormones by tumors of non-endocrine origin.
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Ectopic
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Cancers do not produce new or unique ______ instead we find the abnormal levels of normal ________.
Usuall only detected in blood when the tumor is very large or metastasis has occured. |
Enzymes
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Produced by some cancers (multiple myeloma)
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Antibodies
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Cancer cells express "non-self" antigens.
These fly like a flag, and are markers fromt he surface of their cell membrane. |
Tumor-specific antigens (TSAs)
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Produced and expressed by virally-transformed cells.
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Viral Tumor-specific antigens
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Expressed by cells during embryonic development but are absent or low in normal adult cells.
i.e; Alpha-fetoprotein in hepatic, pancreatic , and epithelial cancers. Carcinoembryonic antigen (CEA) in colonic, pancreatic and breast tumors. |
Oncofetal Tumor-Specific Antigens
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Function in proliferation, enzymatic processes, as receptors, and cellular structures.
The best example is prostate-specific antigen (PSA) which is glycoprotein produced by the prostate in relation to prostate mass, and a TCM used as a screening test for prostate cancer. |
Protein Tumor-Specific Antigens.
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Genes and oncogenes
ie: Philadelphia chromosome in chronic myelocytic leukemia (CML) -Translocation between 9 and 22 -Present in 95% of patients with CML |
Cytogenetics
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Cancers acquire the ability to secrete and respond to their own growth factors.
Increased expression of growth-factor receptors. Allows cancer cells to create numerous copies of genes and expression of gene products. |
Autocrine Stimulation
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Physiological process contributing to the growth of new blood vessels.
Through secretion of angiogenic factors, cancers can continue to enlarge. |
Angiogenisis
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This gene will cause apoptosis if exposed to a hypoxic environment. It produces a protein by the same name.
In many cancers this gene is mutated allowing the abnormal proliferation of cells. |
p53 Gene
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Unaltered, normal healthy alleles of genes that control/regulate cellular growth and differentiation.
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Proto-oncogenes
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Is a proto-oncogene that has been altered (mutated) by carcinogenic agent.
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Oncogene
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These genes encode for proteins that inhibit cell division. (anti-oncogenes)
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Tumor-suppressor genes
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Cancer can occur to to the activation of ______-genes or the inactivaiton of _____ ______ genes.
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Oncogenes
Tumor-suppressor genes |
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A small base-pair change can result in a normal proto-oncogene becoming an unregulated oncogene.
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Point Mutations
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Exchange of information between non-homologous chromosomes.
- t(8;14) in Burkitt lymphoma (B-cells) -t(9;22) in chronic myelocytic leukemia (CML) |
Translocation
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Instead of tow copies of a given gene, there may be hundreds of copies/
Over-expression of an oncogene. |
Gene amplification
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Alleles for tumor-suppressor genes are dominant.
Therefor, to lose tumor-suppressor gene expression, both alleles must be inactivated. |
Loss of Heterozygosity.
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This condition is an associated risk factor for many types of cancer.
Colon cancer with inflammatory bowel diseases Liver cancer with chronic hepatitis Lung cancer with asthmatics. |
Chronic inflammation
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These Viruses change the genetic makeup of the cell.
-Epstein-Barr Virus (EBV) Hodkin lymphoma, Burkitt lymphoma (B lymphocytes) Human Pailloma Virus (HPV) HIV - Kaposi sarcoma - immunosuppression and human hepersvirus 8 Hepatitis B Virus (HBV)- hepatocellular carcinoma. |
Oncogenic Viruses
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These bacterium can cause cancer.
Helicobacter pylori. -Most common cause of peptic ulcer disease, gastric lymphomas, and gastric carcinomas. -Think Chronic inflammation. |
Oncogenic Bacterium
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This is the spread of cancer from the initial site of neoplasm development to distant tissues of the body.
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Metastasis
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-Cellular proliferation
-Barrier destruction by lytic enzymes -Down regulation of cell-adhesion molecules *Desmosomes, hemidesmosomes, and tight juncitons. -Increased motility |
Invasion
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-passage into vessels (blood or lymph)
-"drive" around looking for a good place to stay. -Blood dissemination -Tumor cells can form a leukocyte-gibrin-platelet complex to protect themselves from host defenses. |
Intravasation
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Adherence in favorable sites.Metastic cancer cells can spread diffusely throughout the body, but certain types of cancerous cells have a preference for specific organs..
This is often referred to _____ ______ |
Organ Topism
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Leaves blood vessels and invades secondary tissue.
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Extravasation
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Establishment in new tissue.
Factors that encourage this. Growth factors from target organ Hormones Presence of tumor receptors on the tissue Route |
Colonization
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Metastasis Sequence
L ets M ake A n I ncredibly I ntricate A luminum E lectric C ar |
Local transformation and extension
Motility Angiogenesis Invasion Intravasation Adherence at a favorable site Extravasation Colonization |
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Stages of Cancer
Neoplastic cells in Original site Well differentiated Cells |
Stage 1
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Stages of Cancer
Metastic cell in original site and local lymphatics Moderately-differentiated cells |
Stage 2
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Stages of Cancer
Cells in original site and distant lymphatics. Poorly differentiated cells |
Stage 3
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Stages of Cancer
Metastic cells are found in many body areas Very poorly-differentiated cells |
Stage 4
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Molecular-er-anti-canc3er druges
Targeted Therapy Enzyme inhibitors Monoclonal antibodies - Directed at a specific tumor antigen |
Chemotherapy
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This damages the DNA of the rapidly dividing neoplastic cells.
General and targeted radiation therapy. |
Radiation
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Excisional, Debulkin, Palliative
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Surgical Therapy
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Useful when the tumor is accessible and has not passed beyond stage 3 (regional lymph nodes)
Tumor and lymph nodes must be removed. |
Surgical Thereat
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This type of surgery can relieve symptoms of malignancy
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Palliative Surgery
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Systemic Effects of Neoplasms
_____ invasion - bleeding |
Vessel Invasion
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Systemic Effects of Neoplasms
______ invasion - lymphedema |
Lymphatic Invasion
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Systemic Effects of Neoplasms
_______ invasion - pain, numbness, tingling |
Nerve Invasion
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Systemic Effects of Neoplasms
_______ _______ invasion - Pain and fractures |
Bone Cortex Invasion
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Systemic Effects of Neoplasms
_______ invasion - hepatic isufficiency |
Liver Invasion
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Clinical Manifestations
Little or none of this is associated with early malignancy. Influenced by anxiety, fear, sleep loss, and psychology. Pressure on sensitive areas. Terminal Cancer patients manifest severe versions. |
Pain
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This is due to:
Sleep Disturbance Biochemical changes to treatment Diminished activity level Nutrition Status Muscle ton loss can be due to lack of activity and or circulation necrosis factors |
Fatigue
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Clinical Manifestations
Reduction in red blood cell numbers due to: Chronic bleeding Malnutrition Therapies Malignancy in blood-forming organs |
Anemia
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Clinical Manifestations
Malignancy of the bone marrow can cause _________ and ___________ |
Leukopenia and Thrombocytopenia
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Clinical Manifestations
This is the most common event leading to the demise of patients with malignancy Reduction in immunologic functions due to treatment regimens. Poor wound care Compromised patient care |
Infection
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Clinical Manifestations
State of ill health, wasting, emaciation and decrease quality of life. Symptoms Receded sweet, sour, and salty sensations Depression of appetite Weight loss and asthenia (marked weakness) Altered metabolism (increased BMR) Present in 80% of cancer deaths |
Cachexia
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Clinical Manifestations
Signs and symptoms unrelated to the local effects/presence of neoplasm. Caused by substances released fromt eh tumor or an immune response to the tumor. Hypercalcemia Polycythemia Hypoglycemia |
Paraneoplastic Syndromes
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