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Genetics Flashcards

1
Q

List some conditions that contribute to hereditary susceptibility to colorectal cancer?

A 
Lynch Syndrome (HNPCC)
Familial adenomatous polyposis (FAP)
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2
Q

What may mutations do to protein function?

A

Nonfunctional/missing protein

Reduced function

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3
Q

What is the definition of germline mutations?

A
  • Inherited from single alteration in egg/sperm
  • Heritable
  • eg cancer family syndromes
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4
Q

What happens in oncogene mutation?

A

Accelerated cell division

Only 1 mutation needed for role in cancer development

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5
Q

What happens in tumour suppressor gene mutation?

A

1st mutation - Susceptible carrier

2nd mutation - Leads to cancer

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6
Q

What gene is lost in Familial adenomatous polyposis (FAP)?

A

APC

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7
Q

What is the main mechanism for familial cancer cancer development?

A

DNA Mismatch Repair

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8
Q

What is the lifetime risk of breast cancer in BRCA1 and 2 mutation carriers?

A

60-80%

Also risks of second primary, ovarian cancer, prostate cancer

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9
Q

What is the percentage chance of inheritance for an autosomal dominant condition in which one parent is affected?

A

50%

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10
Q

When should hereditary cancer syndromes be suspected in a patient?

A
  • Cancer in 2 or more close relatives (on same side of family)
  • Early age at diagnosis
  • Multiple primary tumours
  • Bilateral/multiple rare cancers
  • Characteristic pattern of tumours (e.g. breast and ovary)
  • Evidence of autosomal dominant transmission
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11
Q

In familial cancer syndromes, what is cancer family history used for?

A
  • Accurate risk assessment
  • Effective genetic counseling
  • Appropriate medical follow-up
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12
Q

What interventions may be undertaken in a clinical genetics consultation?

A
  • Increased awareness of symptoms / signs
  • Lifestyle - diet, smoking, exercise,
  • Prevention – oestrogen, aspirin use
  • Screening
  • Prophylactic surgery
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13
Q

What surveillance options are available for familial breast cancer?

A
  • Breast awareness
  • Early clinical surveillance 5yr < age 1st cancer in family
  • Annual/clinical breast exams
  • Mammography
  • MR screening for high risk
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14
Q

What side effect can be observes from prophylactic oophorectomy in BRCA1/2 patients?

A

Surgically induced menopause

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15
Q

What is the recommended surveillance for a gene carrier at risk of colorectal cancer?

A
  • 2 yearly colonoscopy from 25/35

- Prophylactic aspirin

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16
Q

What are some benefits to genetic testing?

A
  • Identifies highest risk
  • Identifies non-carriers in families with a known mutation
  • Allows early detection and prevention strategies
  • May relieve anxiety
17
Q

What are some risks and limitations to genetic testing?

A
  • Cant detect all mutations
  • Continued risk of sporadic cancer
  • Efficacy of interventions variable
  • May result in psychosocial or economic harm
18
Q

What gene is mutated in Li-Fraumeni Syndrome?

A

p53 gene

19
Q

What are the modes of inheritance in multi-system disorders?

A

Chromosomal

  • Numerical
  • Structural

Single gene disorders

  • Autosomal dominant
  • Autosomal recessive
  • X linked

Multifactorial

  • Polygenic
  • Environmental factors
20
Q

Give some examples of autosomal dominant multi-system genetic disorders?

A

TS
NF1
Myotonic dystrophy

21
Q

Why may many systems be involved in multi-system genetic disorders?

A
  • Several genes with diverse functions are involved
  • Single gene widely expressed in different tissues
  • Single gene tissue-specific expression but tissue integral part of many different systems
22
Q

What are some common problems in multi-system genetic disease?

A
  • Variable expression within as well as between families
  • Present to a large variety of different specialists
  • Family history easily missed
23
Q

Why may adults be referred for genetic consultation?

A
  • Diagnosis
  • Predictive testing
  • Carrier testing/cascade screening
  • Family history (including cancer)
  • Fetal loss or recurrent miscarriages
24
Q

List some mechanisms of adult onset genetic disease?

A
  • Single gene
  • Chromosomal
  • Mitochondrial
  • Multifactorial (+environment)
25
Q

What are some conditions of genetic susceptibility testing?

A

Test information must be usable for prevention/ treatment

Need adequate info about uncertainty

Predictive testing requires proper counselling

Children or adolescents only be tested if there are potential medical benefits

Third parties should have no access

26
Q

What enzyme is related to motor neurone disease?

A

Superoxide dismutase (SOD)

27
Q

What is the function of SOD?

A

Protects cells from free radical damage

28
Q

What are the possible advantages in predictive testing for a condition such as Huntington’s?

A

If negative - concerns about self and offspring reduced

If positive - make plans for the future

  • Arrange surveillance/treatment if any
  • Inform children/decide whether to have children
29
Q

What are the possible disadvantages in predictive testing for a condition such as Huntington’s?

A

If positive - removes hope

  • continues uncertainty
  • known risk to offspring
  • impact on self/partner/family/friends
  • potential problems with insurance/mortgage

If negative - expectations of a good result
-‘survivor’ guilt

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