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Clinical Genetics > Intro to clinical cancer genetics > Flashcards

Intro to clinical cancer genetics Flashcards

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Biology 101 flashcards
1
Q

What does Array-CGH pick up?

A

Pick up smaller changes in DNA

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2
Q

What does genetic variation make up?

A

Makes us unique

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3
Q

What is genetic variation the basis for?

A
  • Basis for evolution

- Basis for disease

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4
Q

What is genetic variation caused by?

A
  • Caused by intrinsic errors in DNA replication and repair

- Caused by external factors

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5
Q

What does cancer result from?

A

Cancer results when mutations accumulate, cell does not die and cell growth is uncontrolled

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6
Q

What are most cancers caused by?

A

Most cancers are caused by a combination of genetic, environmental and lifestyle factors – multifactorial/sporadic

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7
Q

Germline mutations

A
  • Present in egg or sperm
  • Can be inherited
  • Cause cancer family syndrome
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8
Q

Somatic mutations

A
  • Occur in nongermline tissue

- Cannot be inherited

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9
Q

Sporadic cancer

A
  • No increased risk of other cancers
  • Usually small increased risked to relatives
  • No genetic testing indicated
  • Normal clinical management for affected individuals
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10
Q

Hereditary cancer

A
  • High risk of recurrence
  • High cancer risk in relatives
  • Can offer testing to individuals at risk
  • Offer screening and preventative management to gene carriers
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11
Q

What was knudsons 2 hit hypothesis developed for?

A

Developed for retinoblastoma

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12
Q

What does knudsons 2 hit hypothesis show?

A

Shows why hereditary cancers occur at young ages and tend to be multiple

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13
Q

What does Rb1 gene cause and how many faulty copies are needed?

A

Rb1 gene mutation caused retinoblastoma

-Need two faulty copies of the gene for this to occur

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14
Q

What is reduced penetrance?

A

NOT every person with a germline mutation develops the disease

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15
Q

What classes are targeted in cancer?

A

Different classes of genes are targeted in cancer, which function in normal cell regulation

  • Growth promoting proto-oncogenes
  • Growth inhibiting tumour suppressor genes
  • Genes involved in DNA damage repair
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16
Q

How many family generation do we take in clinical cancer genetics?

A

3 generation family history

17
Q

What do we ask when taking family history in clinical cancer genetics?

A
  • Ask about consanguinity
  • Ethnic background
  • Types and ages of all cancers in family
18
Q

Why may we get someone with no family history of cancer?

A
  • May be because of reduced penetrance
  • May be because of small family
  • May not know all details about their family
19
Q

What are the implication for individuals in cancer?

A
  • Recurrence risks

- Risks of other cancers

20
Q

What are the implication for relatives on cancer?

A
  • How to share information
  • Concerns about children
  • Predictive testing
21
Q

What are the insurance implications of cancer?

A

Current moratorium for predictive testing

22
Q

What are BRCA1 and BRCA2 genes functionr?

A

Function in repair of double stranded DNA breaks

23
Q

What are BRCA1 and BRCA2 genes responsible for?

A

~ 16% familial breast cancers
~ 5% breast cancer
~ 10% ovarian cancer

24
Q

What screening do we use for BRCA carriers?

A

Breast screening

25
Q

When do we carry out breast screening and what type of scans?

A

30-50 yr annual MRI screening

  • MRI done as breast tissue in younger women is dense so MRI helps diagnosis
  • 30-50 yr annual mammograms
26
Q

What does surgical options for breast cancer reduce?

A

Risk reducing double mastectomy

27
Q

What does surgical options for ovarian cancer reduce and what is removed?

A

Risk reducing bilateral salpingo-oophorectomy

  • Both ovaries and tubes removed
    • surgical menopause
    • Means that no longer will have oestrogen which is a protector against cardiovascular problems
28
Q

What is hereditary non-polyposis colorectal cancer syndrome also known as?

A

Lynch syndrome

29
Q

What mutations cause lynch syndrome?

A

Germline mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2)

30
Q

What does lynch syndrome have a hereditary predisposition to?

A
  • Colorectal cancer
  • Ovarian cancer
  • Endometrial cancer
  • Plus gastric, pancreatic, hepatobiliary tract, urothelial and small intestine cancers
31
Q

How do we screen for HNPCC and when do we do it?

A

Colonoscopy every 18-24 months, from age 25-30

32
Q

What is recommended for HNPCC?

A

Recommend total hysterectomy

33
Q

What options are discussed for HNPCC?

A

Discuss option of risk-reducing TAH/BSO from early 40’s

34
Q

How do we test for lynch syndrome?

A
  • Tumour testing on colorectal and endometrial cancers

- Gene panel testing for MLH1/MSH2/MSH6/PMS2

35
Q

What does aspirin reduce?

A

Aspirin reduces cancer risk in Lynch syndrome patients by ~50%

Clinical Genetics (4 decks)

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