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Cancer Flashcards

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1
Q

Genes implicated in cancer?

A

Oncogenes, Tumor Supressor Genes, DNA Repair Genes

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2
Q

What are normal genes, that, when mutated become “driver genes” through alterations that lead to excessive levels of activity.

A

Proto-oncogenes

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3
Q

What causes overproduction of growth factors and unrestrained cell growth? What is it driven by?

A

Oncogenes; elevated transcription factors

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4
Q

Oncogenes facilitate malignant transformation by?

A

stimulating proliferation, or inhibiting apoptosis

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5
Q

How are oncogenes inherited if transmitted in the germline?

A

dominantly inherited tumor predisposition (ie, MEN 2)

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6
Q

How do tumor suppressor genes lead to cancer?

A

inactivation of loss of tumor suppressor genes leads to cancer

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7
Q

What is the normal function of tumor suppressor genes?

A

Inhibit cell growth

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8
Q

Tumor formation requires mutations in both alleles of the tumor suppressor gene T or F?

A

True

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9
Q

What is the 2 hit theory?

A

May require 2 separate mutational events loss-of-function mechanisms can range from missense, nonsense, or frameshift…to deletions or loss of entire parts of a chromosome, etc.

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10
Q

What are examples of Tumor Suppressor genes?

A

BrCa1&2, MEN1, NF1, RB1

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11
Q

Mutations in DNA repair genes lead to?

A

an increase in the FREQUENCY of other mutations, that then lead to tumor formation

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12
Q

What are 3 examples of diseases caused by mutations in DNA repair genes

A

Ataxia telangiectasia, Fanconi anemia, Hereditary nonpolyposis colon cancer [HNPCC]

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13
Q

What are the initial series of events in colon cancer?

A

Loss of the APC gene will cause hyper-proliferative epithelium  early adenoma  activation of the oncogene K-ras  intermediate adenoma Loss of an entire end of a chromosome (18q)  late adenoma  Loss of our tumor-suppressor gene P53 Carcinoma Other alteration  metastasis

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14
Q

What is the term for different cells within the same tumor can be resistant to different forms of treatment?

A

Microevolution environment

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15
Q

What other Factors affect Penetrance?

A

modifier genes and epigenetics, response to DNA damage, carcinogens, and hormonal reproductive factors.

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16
Q

Why does Hereditary cancer appear at an earlier age?

A

If you are born with hereditary mutations that take out one allele, you start off halfway there – one normal allele is already knocked out. This means you only need ONE mutation.

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17
Q

Hereditary Cancer Syndromes- Result from

A

germline mutations (mutation is in every cell) Can be passed on to offspring

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18
Q

What are the 6 Types of Hereditary Cancer Syndromes?

A

Li-Fraumeni Syndrome, Retinoblastoma, Von Hippel Lindau Syndrome (renal), Familial Breast/Ovarian, HNPCC, FAP

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19
Q

Individuals with deletion of the Rb gene (germline mutation) are at increased risk for?

A

cancer of the retinas, Retinoblastoma
These tumors are found in really young children and often are not recognized because at 2 years old the child doesn’t know they can’t see well

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20
Q

Why were retinoblastomas treated differently, what was the treatment causing?

A

But these kids were coming back years later with osteosarcomas – found that the radiation was actually causing the sunsequent osteosarcomas

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21
Q

What was the first tumor suppressor gene cloned?

True or false Rb is seldom mutated in sporadic human cancers?

A

The Rb gene served as the paradigm for the two-hit hypothesis

22
Q

The normal function of the Rb gene is?

A

Inhibits proliferation, promotes differentiation, inhibits apoptosis (common theme with tumor suppressors)

23
Q

The Rb gene is located on chromosome?

A

13q14

24
Q

Von Hippel Lindau Syndrome has what pattern of inheritance?

A

Autosomal dominant inheritance

25
Q

Von Hippel Lindau Syndrome

A
  • Affects multiple different systems – NOT Familial cluster because there is a clear hereditary pattern and all of the cancers are within the spectrum
    i. Hemangioblastomas – brain, spinal cord and retina
    ii. Renal cysts and clear cell renal carcinoma (hallmark of this syndrome)
    iii. Pheochromocytoma
    iv. Endolymphatic sac tumors- “very rare and weird”
    2. Very difficult for genetic counseling – even if you determine that someone has the mutation that puts them at risk, you can’t tell the risk for one kind of tumor
26
Q

What is a key facilitator of tumor-genesis in Renal cell carcinoma-

A

mTOR is a key facilitator of tumor-genesis, the signal to control it is knocked out

27
Q

The majority of CRC cancers is?

A

sporadic

28
Q

What are characteristics of Familial Adenomatous Polyposis?

A

Thousands of polyps in colon, each of which is more likely than normal tissue to become a tumor. Results in a 99% chance of colon cancer with FAD.

29
Q

FAP is Caused by mutations in what gene?

A

APC gene (tumor suppressor)

30
Q

FAP has what pattern of inheritance?

A

Autosomal Dominant 50% chance of inheriting

31
Q

What is the Hot Spot for FAP?

A

codon 1309 of the gene

32
Q

What is done if a mutation in the APC gene and polyps are detected?

A

Colectomy (removing the colon) is usually done and the small intestine is attached to the rectum. This can be done in the pre-cancerous polyp state to prevent progression.

33
Q

In general, all germline tumor suppressor mutations have what mode of inheritance?

A

dominant, even though you have to develop two mutant alleles

34
Q

What is HNPCC? when and where do tumors form?

A

hereditary nonpolyposis colorectal cancer clinical

age at CRC diagnosis (~45 years), proximal colon (genetic) transverse & descending (sporadic)

35
Q

In women HNPCC can be CRC or endometrial cancer-

A

8% of women who showed up at the hospital with endometrial cancer had HNPCC

36
Q

What are the 5 core cancers of Li Fraumini

A

A variety of tumors, including: breast cancer, brain tumors, acute leukemia, soft tissue sarcomas, bone sarcomas, and adrenal cortical carcinoma

37
Q

What is the mode of inheritance for HNPCC

A

Autosomal Dominant mode of inheritance. ~80% penetrance - The more first degree relatives with the condition, the higher your risk

38
Q

How does HNPCC present? what is it caused by a defect in?

A

Multiple primary tumors.
a. This means separate mutation events—this is not a metastasis.
Caused by a genetic defect in DNA repair
No polyps = no cancer

39
Q

True/False - HNPCC shows Genetic heterogeneity

A

True (MLH1,MSH2, MSH6, etc) – many different genes that might be mutated

40
Q

How to test for HNPCC:

A 
microsatellite instability MSI
Used to identify tumors caused by defective mismatch repair - compare # nucleotide repeats in a panel of microsatellite markers.  
Microsatellite stability (MSS)= same number of repeats 
Microsatellite instability (MSI) is present if the number of repeats in the tumor and the normal tissue differs
- looks for mistakes from impaired repair mechanisms. Does not look for the specific gene. If you get a positive result, you go hunting for the gene.
41
Q

Hereditary Breast/Ovarian Cancers are caused by mutations in?

A

BrCa genes 1 or 2

42
Q

What is early age of onset for breast/ovarian cancers?

A

Early age of onset – less than 50 years old

43
Q

What religion of people has a greater risk for hereditary breast/ovarian cancers? What kind of mutations are they?

A

Jewish People - individuals will have a different risk profile for breast cancer. Out of the 4 big mutations, 80% of women will have one of them
Mutations in these families are “private” mutations that require sequencing the gene backward and forward to identify the specific mutation within that family
Private means that each family has its own mutation

44
Q

What chromosome is BRCA 1 on? 2?

A

13; 17

45
Q

What is Li-Fraumeni Syndrome?

A

“the big meanie” Spectrum of tumors, and one of the problems is that you don’t know what kind of cancer will happen

46
Q

What are the Criteria that must be met for a diagnosis of LFS?

A

A proband diagnosed with sarcoma when younger than 45 years, A first-degree relative with any cancer diagnosed when younger than 45 years, Another first- or second-degree relative of the same genetic lineage with any cancer diagnosed when younger than 45 years or sarcoma diagnosed at any age

47
Q

The lifetime risk for cancer is estimated to be 85-90% for what mutation carriers?

A

P53

48
Q

What causes more breast cancer CHK2 or P53

A

CHK2

49
Q

What is the term for Mutations in difference genes can cause the same disease?

A

Genetic Heterogeneity

50
Q

What are the criteria to Assessing the Genetic Risks of Cancer?

A

Multiple cases of early onset cancer, Cancer in two or more close relatives, Bilateral cancer in paired organs, Multiple primary tumors in the same individual, A specific spectrum of tumors (i.e. colon and endometrial cancers)

a GENETICS (4 decks)

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