Genetic Basis of Cancer Flashcards Preview

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Flashcards in Genetic Basis of Cancer Deck (19)
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1
Q

What two consequential characteristics of neoplasia facilitate acquisition of cancer properties?

A

Genomic instability endow cancer cells with genetic alterations to drive tumor progression

Inflammation response by innate cells has tumor-promoting consequences

2
Q

What are oncogenes?

A

Genes that have a stimulatory effect on cells typically through GoF mutation

3
Q

What are tumor suppressor genes?

A

Genes whose products normally negatively regulate cell proliferation

LoF mutation

Both copies must be non-functional to contribute to cancer progression

4
Q

What is the inheritance pattern of retinoblastoma?

A

Autosomal Dominant with incomplete penetrance

5
Q

What is Loss of Heterozygosity?

A

Loss of information of one allele

6
Q

What is Knudson’s Hypothesis?

A

In familial Rb, only one mutation event is needed to make a cell without Rb product

In sporadic form, two mutations in the same cell are needed

7
Q

What is the cause of familial adenomatous polyposis?

A

Germline mutations in the adenomatous polyposis coli gene (APC)

Autosomal dominant

8
Q

What is the most common type of inherited breast cancer?

A

Hereditary breast and ovarian cancer syndrome (HBOC)

9
Q

What is the cause of HBOC?

A

Mutations in BRCA1 and BRCA2

10
Q

What is Cowden syndrome?

A

Characterized by multiple tumor-like growths and an increased risk of certain cancers

Develop hamartomas - small non-cancerous growths

11
Q

What is hereditary nonpolyposis colorectal cancer syndrome?

A

Lynch syndrome

Early age onset colorectal cancer and endometrial cancer

Caused by mutations is DNA mismatch repair genes

12
Q

What is Li-Fraumeni Syndrome?

A

Rare genetic condition characterized by increased risk to develop multiple types of cancer

Caused by TP53 mutation

13
Q

What is Von Hippel-Lindau disease?

A

Multisystem disorder characterized by abnormal growth of blood vessels called hemangioblastomas

Mutation in VHL gene

14
Q

What is the difference between BRCA1 tumors and BRCA2 tumors?

A

BRCA1 tumors tend to be more agressive

Tumor biology is different depending on inherited or sporadic occurrence

15
Q

What is the significance of the I1307K mutation in the APC gene?

A

Does not impune the function of the protein or the gene itself

Decreases the stability of the gene by increasing the risk of somatic mutations as a result of slippage during replication

16
Q

How does chromosome instability affect cancer?

A

Offers the benefit of increased mutability to a cancer

Disporportionally affects men

17
Q

What methylation pattern is common in cancers?

A

Hypomethylation of the genome followed by hypermethylation of critical regions

18
Q

What is the strongest risk factor for hypomethylation?

A

Age

19
Q

Why can epigenetics be used as a therapy?

A

Epigenetic changes are intrinsically reversible