CCG Flashcards

1
Q

What are the two types of cancer mutations?

A

→constitutional germline

→somatic

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2
Q

Compare germline mutations and somatic mutations

A

→germline and somatic inform inform treatment decision
→germline and somatic inform family members

→Germline informs future cancer risk

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3
Q

What is family history used for in clinical cancer?

A

→as a proxy of risk

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4
Q

Describe polygenic familial risk

A

→Risk conferred through multiple lower risk genetic factors +/- environmental factors

→No current testing available

→No single high risk gene identified

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5
Q

What distribution does polygenic disease follow?

A

→normal distribution

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6
Q

On a normal distribution graph, where is familial risk associated with?

A

→shifted to right hand side

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7
Q

Why identify patients with increased genetic predisposition to cancer?

A

→Informs medical management and surgical options

→Informs relatives about cancer risk –access to screening / risk reducing surgery

→Provides reason for why developed cancer

→Informs patient about future cancer risk

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8
Q

How can we identify patients with increased genetic predisposition to cancer?

A

→Family history
→Tumour testing
→Syndromic features eg features in tumour
→Pathology of cancer

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9
Q

When are breast cancers most common?

A

→post menopausal

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10
Q

What are polygenic risk scores?

A

→Genetic testing of multiple low risk factors

→indicate increased genetic susceptibility to cancer

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11
Q

How are polygenic risk scores calculated?

A

→cancer associated SNPs found from Genome Wide Association Studies

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12
Q

What are two common syndromic features of cancer?

A

→Mucocutaneous pigmentation

→Trichilemmoma- Causden syndrop

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13
Q

What is the stratified prevention strategy?

A

→categorisation of the population into multiple groups with different interventions applied in the different groups

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14
Q

What are CPGs?

A

→cancer predisposition genes

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15
Q

What is involved in Screening, Prevention and Early Detection (SPED)?

A

→Mammograms
→Colonoscopies
→Chemoprevention

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16
Q

What drug reduced bowel cancer risk?

A

→aspirin

17
Q

What is the genotype of colon polyps?

A

→MUTYH gene

→recessive

18
Q

What are the four stages of genetic testing in cancer?

A

→Single gene
→NGS panel
→WES
→WGS

19
Q

What are the outcomes of diagnostic genetic testing?

A

→No disease causing variant identified

→Variant of uncertain significance identified

→Disease causing (pathogenic) variant identified

20
Q

What are the three types of Screening, Prevention and Early Detection (SPED)?

A

→Non-invasive imaging –often more frequent and starting at younger age

→Invasive – often more frequent, starting at younger age

→Chemoprevention

→Risk reducing surgeries- removal of organs

21
Q

Which people have predictive testing?

A

→WELL person to predict future risk

22
Q

What happens if pathogenic variant is not present in a well person after predictive testing?

A

→manage as population risk

23
Q

What happens if pathogenic variant is present in a well person after predictive testing?

A

→manage as per gene specific protocol

24
Q

What are the most frequent monogenic causes of hereditary breast cancers?

A

→BRCA1 and BRCA2 genes

25
Q

What is BRCA1 involved in?

A

→DNA repair (homologous recombination repair)

→regulation of transcription

26
Q

Which groups of people are BRCA 1 common in?

A

→Polish, Ashkenazi Jewish

27
Q

What is recommended for male BRCA2 carriers?

A

→recommended to have annual PSA test

28
Q

What is one cause of Lynch syndrome?

A

→Mismatch repair

→MLH1, MSH2, MSH6 and PMS2

29
Q

How are carriers for Lynch syndrome managed?

A
→Screening
→Risk-reducing surgery
→Chemoprevention- Low dose aspirin
→Research
→Cancer management
→Family matters
30
Q

How is Lynch syndrome tested for?

A

→Loss of protein expression via IHC in tumour sample