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HG_II_Lecture_2
Cancer genomics intro
31
Biology
Graduate
07/10/2014

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Cards

Term
PINGO: How many percent of human genome falls into degmental duplication?
Definition
5%
Term
PINGO: Can segmental duplications be polymorphic?
Definition
Yes
Term
PINGO: Where segmental duplications are enriched?
Definition
SDs are enriched close to telomeres and close to centromers
Term
PINGO: How seqmental duplications could be generated?
Definition
By non-homologus recombination
Term
PINGO: What makes a major problem for genome assembling?
Definition
Segmental duplications
Term
How many copies of Alu elements exist in the human genome?
Definition
Between 1 and 10 millions
Term
PINGO: What fraction of the genome is annotated as Repeat (i.e. masked by Repeat Masker)?
Definition
50% ?
Term
Outline the structure and size of average protein-coding mRNA
Definition

5' cap, 5'UTR, CDS, 3' UTR, polyA tail

 

CDS 1500 bp, 5’UTR 170 bp on average, 3’ UTR 700 bp on average

Term
How many people will be diagnosed with cancer during their lifetime?
Definition
30 % (1 out of 3)
Term
PINGO: What is the mortality from cancer?
Definition
25%
Term
What is the differece between cardiovascular desease and cancer?
Definition

Cardiocascular: single decease of a single system with single cause 

 

Cancer: multiple

Term
What is the hallmark characteristic of cancer?
Definition
Unchecked growth that progresses toward limitless expansion
Term
PINGO: What is the different types of cancer?
Definition

Carcinomas arise from the cells that cover external and

internal body surfaces = epithelial(Lung, breast, and colon).

Sarcomas are cancers arising from cells found in the supporting tissues of the body such as bone,

cartilage, fat, connective tissue, and muscle (mesenchima).

Lymphomas are cancers that arise in the lymph nodes and immune system.

Leukemias are cancers of the immature blood cells

Term
What happens with growth control in cancer cells?
Definition

In normal tissues, the rates of new cell growth

and old cell death are kept in balance. In cancer, this balance is disrupted. This disruption can

result from uncontrolled cell growth or loss of a cell’s ability to undergo apoptosis.”

Term
How Phyladelphia chromosome is formed?
Definition
A reciprocal translocation between chromosomes 9 and 22
Term
What is the exogenous cause of cancer?
Definition
Virus
Term
Outline the processes of invasion and metastasis
Definition

Cancers are capable of spreading throughout the body by two mechanisms: invasion and metastasis. Invasion refers to the direct migration and penetration by cancer cells into neighboring tissues. Metastasis refers to the ability of cancer cells to penetrate into lymphatic and blood vessels, circulate through the bloodstream, and then invade normal tissues elsewhere in the body.

Term
What is the difference between benign and malignant tumors?
Definition
Benign tumors are tumors that cannot spread by invasion or metastasis; hence, they only grow locally. Malignant tumors are tumors that are capable of spreading by invasion and metastasis. By deÞnition, the term “ cancer” applies only to malignant tumors.
Term
What are the features of cancer cells?
Definition
Among the traits the doctor looks for are a large number of irregularly shaped dividing  cells, variation in nuclear size and shape, variation in cell size and shape, loss of specialized cell features, loss of normal tissue organization, and a poorly deÞned tumor boundary.
Term
What hyperplasia stands for?
Definition
Hyperplasia refers to tissue growth based on an excessive rate of cell division, leading to a larger than usual number of cells. Nonetheless, cell structure and the orderly arrangement of cells within the tissue remain normal, and the process of hyperplasia is potentially reversible. Hyperplasia can be a normal tissue response to an irritating stimulus.
Term
What dysplasia stands for?
Definition
Dysplasia is an abnormal type of excessive cell proliferation characterized by loss of normal tissue arrangement and cell structure. Often such cells revert back to normal behavior, but occasionally they gradually become malignant.
Term
What are the endogenous causes of cancer?
Definition
Heredity, diet, hormons
Term
What are oncogenes?
Definition
Oncogenes are genes whose PRESENCE in certain forms and/or overactivity can
stimulate the development of cancer.
Term
What are proto-oncogenes?
Definition
Oncogenes are related to normal genes called proto-oncogenes that encode components of the cell’s normal growth-control pathway
Term
What are tumor suppressor genes?
Definition
Tumor suppressor genes are normal genes whose ABSENCE can lead to cancer. (p53)
Term
What are the convergent paths of cancer?
Definition
1) Cancer as heritable cellular phenotype: cancer cells breed true
2)Many causes of cancer damage DNA, causing mutations
3) Abnormal chromosomes in cancer cells
4)The cellular origin of retroviral oncogenes:proto-oncogenes
5)Congenial cancer
Term
The main features of retinablastoma gene
Definition
The deletion in chr13 segregates with the desease, removes a gene known as RB1
Term
PINGO: Cancer is often the result of activation of ____ to ____ and the inactivation of ____ genes
Definition
proto-oncogenes, oncogenes, tumor-suppressor genes
Term
PINGO: Familial cancer is caused by ...?
Definition
a germline mutation plus a somatic mutation in affected tissue
Term
PINGO: In what way does the ras oncogene contribute to cancers?
Definition
Ras codes for a GTPase switch protein, which in its mutated form cannot be switched off
Term
PINGO: Why is retinoblastoma gene is known to inherit as autosomal dominant, while being a recessive?
Definition
If you are born with one allele mutated in every cell, the chance that the other allele will be mutated in one of the retinal cells is extremely high
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