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CCG > Introduction to Cancer and Clinical Genetics > Flashcards

Introduction to Cancer and Clinical Genetics Flashcards

1
Q

List the commonest cancers

A

Prostate, Breast, Lung, Colorectal, Cervix, Bladder, Endometrial

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2
Q

What are driver mutations?

A

allow cancer to grow & spread e.g. tumor suppressor gene, RAAS

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3
Q

What are passenger mutations?

A

randomly spaced throughout the genome with no benefit to the cell as a result of rapid cell div & high mutation state

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4
Q

What are kataegis?

A

Higher levels of mutations through specific locations of the genome

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5
Q

What 3 factors does a cancer cell typically have?

A
  • Have a mutation inactivating the TP53 gene
  • A gain-of-function / activating mutation in a RAS or MYC proto-oncogene
  • Activates Telomerase
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6
Q

What is TP53?

A

It’s a Tumour Suppressor Gene (TSG) that encodes a protein called p53
Over half of human cancers have a TP53 mutation

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7
Q

What is p53?

A

operates within the nucleus to:
• Activate DNA repair processes
• Arrest cell division if there is DNA damage
• Initiate apoptosis in severe DNA damage
• Control cell senescence

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8
Q

What are proto-oncogenes?

A
  • control cell proliferation signals
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9
Q

What are oncogenes?

A
  • mutated proto-oncogenes that are stuck in ‘on-mode’

- The cell can then divide without normal growth factor stimulation

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10
Q

What are telomeres?

A

Structures at the end of our chromosomes that provide a protective cap
– ends get shorter as cell div so help prevent cell going through too many div processes
• They consist of a repetitive sequence of 6 nucleotides – TTAGGG
• With each cell division the number of times this sequence is repeated is reduced.

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11
Q

What happens if telomeres are absent?

A

the chromosomes are prone to structural rearrangements, ultimately leading to senescence or apoptosis

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12
Q

What happens to cancer cells telomere expression?

A

Cancer cells over-express Telomerase, which extends the telomeres
• Cellular immortality…

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13
Q

What happens if TP53 mutation occurs from conception?

A

–> Li-Fraumeni Syndrome

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14
Q

Which drug has halved the number of Lynch syndrome cases?

A

600mg aspirin

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15
Q

How do anti-platelet drugs affect tumor cells?

A

Anti-platelet activity improves immune response to tumour cells
Platelets can stick to cancer cells but block immune system from then accessing tumor cells
Inducing apoptosis of tumour cells due to anti-inflammatory effects

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16
Q

What is the benefit of salicylic acid?

A
  • Metabolite of aspirin
  • Acts in plants as a signalling hormone
  • Mediates a broad spectrum systemic immune response
17
Q

List the symptoms of cancer

A
  • Non-specific:
  • Lethargy, tiredness, malaise, decreased exercise tolerance, unexplained weight loss
  • Specific:
  • Bleeding – PR, PV, haemoptysis, haematuria
  • A lump
  • Pain (often dull, longstanding)
  • Persistent cough
  • Dysphagia
  • A change (bowel habit, micturition…)
18
Q

List the signs of cancer

A
  • Non-specific:
  • Cachexia, anaemia, tachycardia, tachypnoea, palpable metastases
  • Specific
  • Lump, skin tethering, nipple retraction (breast)
  • Effusion, consolidation (lung)
19
Q

List the trajectory of a cancer pt

A 
Diagnosis  
• History  
• Examination  
• Imaging  
• Biopsy  
• Staging  
• [Tumour genetics/genomics] – genetic testing of tumor • [Liquid biopsy – cell free circulating tumour DNA] – from blood sample, more accurate rep of diff types of DNA from tumor
20
Q

Describe cancer staging

A
  • TNM system
  • Tumour – 0, 1, 2, 3, 4
  • Nodes – 0, 1 [regional node(s) only], 2, 3 [distant nodes] • Metastases – 0, 1
21
Q

What are the benefits of surgery as a cancer treatment

A

• Gives greatest chance of cure
• Stage 1 cancers and pre-invasive tumours often treated with surgery alone
Majority of solid tumour patients will have surgery as part of their management

22
Q

List Notable Surgical Advances

A
  • Organ preservation surgery – preserve organ + just remove tumor
  • Minimally invasive surgery i.e. keyhole
  • Robot-assisted surgery – fine movements, tight spaces
  • Intra-operative radiotherapy
  • Curative intent metastasis surgery
23
Q

List the different aspects of Palliation

A
  • Tumour reduction – surgery, chemotherapy, radiotherapy, targeted therapies
  • Symptom management
  • Holistic care
  • Managing other health problems
  • Rationalising medication
  • Respecting wishes
  • Spiritual care
  • Family care
24
Q

What are the aims of screening?

A
  • Requires evidence of improved outcome
  • Different methods and efficacy for each cancer type
  • Aim to detect pre-cancerous lesions
25
Q

Which aspects are important to consider for screening?

A

• Sensitivity and Specificity
• Cost
• Compliance/uptake
• Natural history of tumour progression
• Stage shift/mortality data
Cervical and breast cancers have pre-cancerous stage which can turn into cancer

CCG (3 decks)

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