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MBD > Clinical Cancer Genetics > Flashcards

Clinical Cancer Genetics Flashcards

1
Q

What is the inheritance pattern of the majority of high risk cancer predisposition genes?

A

Autosomal dominant

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2
Q

Is hereditary cancer more common or rarer than sporadic?

A

RARER - vast majority do not have an inherited cancer

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3
Q

Describe the difference of a constitutional (germline) mutation vs somatic

A
  • Germline mutations are mutations that the person is born with due to a mutation being present in the gamete of a parent
  • Somatic mutations are acquired and can not be given to children - can be thought of as ‘tumour only’ and they make up the vast majority of cancers
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4
Q

What is the difference between a hereditary and acquired mutation?

A 
Hereditary = germline
Acquired = any other time
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5
Q

What are the two different types of genetic susceptibility?

A
  • High risk cancer genes
  • Familial cancer
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6
Q

What are high risk cancer genes?

A

A single genetic change (mutation) in a high risk cancer gene and this increases their risk of cancer significantly

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7
Q

What are familial cancers?

A

Due to multiple lower risk genetic factors (so is multifactorial) to increase cancer risk - is much more common

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8
Q

Describe the frequency in the population of mutations causing a high risk of cancer in inherited disease

A

This is very low, most are low risk or intermediate risk (2-4 x chance) but few are high risk variants such as macular degeneration

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9
Q

What is an example of a high effect common variant influencing common disease?

A

Macular degeneration

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10
Q

What do the most common high risk cancer predisposition genes code for?

A
  • Retinoblastoma
  • Medullary thyroid
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11
Q

What can you use to identify genetically predisposed cancers?

A

Family history
Syndromic features
Tumour testing
Pathology of cancer

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12
Q

Describe the BRCA1 and BRCA2 genes in cancer risk

A

These are high risk breast cancer genes

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13
Q

What does a family history assessment show?

A
  • Age of onset
  • Type of cancer
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14
Q

How do you get a polygenic risk score?

A

GWAS for cancer associated SNPs

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15
Q

How can we sometimes use syndromic features to identify a patient that has a high risk cancer gene - name some

A

Some rare high risk cancer gene mutations show (mostly dermatological) syndromic features such as:

  • trichilemmoma (PTEN gene mutation)
  • mucocutaneous pigmentation (STK11 gene mutation)
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16
Q

How can you check if a mutation is germline?

A

blood test

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17
Q

What is stratified prevention?

A

Categorisation of the population into risk groups, each of which would be offered a different intervention

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18
Q

Explain what category B1 and B2 surveillance is

A

Guidelines for breast cancer, we take family history and look at family history and other things and use an algorithm to add up the risk

19
Q

How often are all women screened for breast cancer?

A

3 yearly from 47-70

20
Q

How big of a risk is B1 surveillance?

A

Medium

21
Q

How big of a risk is B2 surveillance

A

High

22
Q

If you are on B1 surveillance how often do you get invited for breast cancer screening?

A
  • Anually 40-50
  • 3 yearly 50-70
23
Q

How often do you get invited for breast cancer screening if you’re on B2 surveillance?

A
  • Annual 40-60
  • 3 yearly 60-70
24
Q

What is tamoxifen?

A

Anti-oestrogen drug, shown to decrease risk of developing cancer if they come from a family with increased susceptibility of cancer

25
Q

What is chemo prevention?

A

Use of drugs to preemptively minimise cancer risk (B2)

26
Q

Describe when we test for high risk cancer causing genes - what is the condition that needs to be met before we test?

A

When the likelihood of finding a pathogenic variant is greater than 10%

27
Q

Why is there a large range in the % of people that develop cancer when they have a high risk cancer predisposition gene?

A

Due to the potential involvement of environmental factors

28
Q

What is the pattern of inheritance for the large majority of cancer predisposition genes?

A

Autosomal dominant

29
Q

Name a recessive predisposition gene

A

MUTYH (predisposition to cancer and colon polyps)

30
Q

Describe the different types of genetic testing that we might do in the NHS

A
  • single gene
  • NGS panel (looking at multiple genes) - is more common
  • WES
  • WGS - in the future we will do WGS for both the tumour and the germline for all cancer patients!
31
Q

If we identify pathogenic variant, what actions can we do?

A
  • non-invasive imaging being more frequent and at a younger age
  • invasive imaging
  • chemoprevention
  • risk-reducing surgeries
32
Q

Why has there been a move to WGS for genetic cancer testing?

A
  • Increased mutation detection
  • Increased understanding of mutagenesis
  • Greater understanding of phenotypic spectrum/cancer risk
33
Q

What are the possible outcomes of diagnostic genetic testing?

A
  • No disease causing variant
  • Variant of uncertain sigificance identified
  • Disease causing variant identified
34
Q

What are the only 2 genes that significantly increase the risk of both breast cancer and ovarian cancer?

A

BRCA1 and BRCA2

35
Q

What is predictive testing?

A

A test in a well person to predict future risk

36
Q

What are the BRCA1 and BRCA2 genes involved in?

A

DNA repair and regulation of transcription

37
Q

Describe the management of people with BRCA1 or 2 but who do not have cancer yet

A
  • screening (annual MRI and mammography) but not ovarian screening or for other cancers
  • discussion of bilateral risk-reducing mastectomy
  • offer risk-reducing salpingo-oophorectomy once childbearing is complete this is the removal of fallopian tubes and then uterus
  • do not discuss chemoprevention with BRCA1 but do with BRCA2
38
Q

What is Lynch syndrome?

A

Familial colorectal cancer, womb and ovarian cancer

  • mutation in one of 4 genes
  • due to mismatch repair
39
Q

What is the prevelance of lynch syndrome?

A

1 in 440

40
Q

What genes are involved in lynch syndrome?

A

MLH1, MSH2, MSH6 and PMS2

41
Q

What types of cancer is lynch syndrome most associated with?

A

Colorectal, endometrial and ovarian

42
Q

Describe the testing and screening in Lynch syndrome

A
  • We test the tumour for one of the 4 mutations with immunohistochemistry (stain to check for missing proteins)
  • screen for colorectal and gastric
43
Q

What risk reducing surgery is done in lynch syndrome?

A

Hysterectomy

44
Q

What chemoprevention is done in lynch syndrome?

A

Low dose aspirin

MBD (23 decks)

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