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Genetics and Human Disease > Genetics of Leukaemia > Flashcards

Genetics of Leukaemia Flashcards

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1
Q

Where is it speculated chronic lymphocytic leukaemia come from?

A

Late memory B cells.

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2
Q

How many mistakes are made per cell division?

A

120,000 mistakes per cell division

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3
Q

What is a somatic mutation?

A

Mistakes made during cell divsion

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4
Q

What is the biggest cause of damage in DNA?

A

Molecular oxygen which is an atom acceptor during the production of ATP.

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5
Q

What mutations are often common in cancer?

A

p53 and deletions of chromosome 13

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6
Q

What is preleukemic lymphocytosis?

A

Precursor conditions some similar symptoms.

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7
Q

What is the inheritance pattern for haematological cancers?

A

Runs in family.

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8
Q

What is the link of frequency in population to penetrance?

A

Indirectly proportionate.

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9
Q

Can Acute myeloid leukaemia (AML) be a monogenic disease?

A

YES

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10
Q

What kind of risk genes are mutated somatically?

A

CEPBA

RUNX1

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11
Q

Which risk genes are responsible for human syndromes, with AML as a component?

A

FANCA

TP53

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12
Q

How many loci carrying common variants account for 25% of heritable risk of

A

Chronic Lymphocytic Leukaemia (CLL)

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13
Q

Which gene is the strongest for CLL?

A

IRF4

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14
Q

What is the role of IRF4?

A

B cell development, when under expressed leads to CLL.

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15
Q

What else does IRF4 carry a risk for?

A

Hodgkin lymphoma

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16
Q

Which of AML and CLL is more complex?

A

AML

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17
Q

Which is the biggest risk gene for AML?

A

KMT5B and HLA

18
Q

Within the genome where do most GWAS map risk variants?

A

Noncoding regions.

19
Q

How do noncoding regions affect disease risk?

A

By altering gene expression.

20
Q

How do non coding regions alter gene expressions?

A
  • enrichment of active promoters/enhancers
  • enrichment for TF binding sites
21
Q

Where are the TFs with a role in B cell function and development?

A
  • BCR signalling
  • apoptosis
  • differentiation
22
Q

What kind of pathway do low levels of IRF4 TF lead to?

A

BCR activation

CLL cell survival
via phosphorylation of IKAROS and SYK.

23
Q

Where is the HLA complex?

A

Within the 6p21.3 region of the short arm of chromosome 6.

24
Q

How many genes does the HLA complex CONTAIN?

A

> 240 genes of diverse functions.

25
Q

What is the main role of the HLA complex?

A

Many of the genes encode immune
system proteins.

26
Q

What is the role of HLA antigens on their specialized immune cells?

A

Present peptides from foreign substances to effector cells of the immune system

27
Q

How many cancers are caused by infection?

A

1 in 7

28
Q

What is the purpose of NPM1 mutations?

A

They create a targetable shared neoantigen in AML.

29
Q

Why are targetable shared neoantigen in AML important?

A

Targeting a mutant NPM1-derived neoantigen has antitumour activity against AML cells?

30
Q

What are the neoantigens presented on AML red blood cells?

A

NPM1 mutations create a C-terminal alternative reading frame not present in normal blood cells.

31
Q

What is the future impact of NPM1 mutant AML?

A

May be a candidate for neoantigen vaccines or adoptive T-cell therapy.

32
Q

What happens after a chronic lymphocytic leukaemia diagnosis?

A
  • Time from diagnosis to first treatment is highly variable
  • Some patients never need treatment (indolent disease)
  • Other patients progress very quickly (aggressive disease)
33
Q

Which chromosomes are linked to leukaemia progression in CLL?

A

Chr 6 and chr 10 markers

34
Q

What is the direct gene linked to CLL progression and aetiological?

A

C6orf106 (ILRUN)

35
Q

What is the role of chromosome 10 in disease risk?

A

Marker for disease progression is

NOT a CLL risk allele

36
Q

What is the role of LRUN (C6orf106)?

A

Encodes a protein that functions as an inhibitor of antiviral and pro-inflammatory cytokine transcription.

37
Q

An example of a monogenic leukaemia gene?

A

POT1

38
Q

An example of a polygenic leukaemia gene?

A

HLA complex

39
Q

Which leukaemia gene shows shared genetic susceptibility?

A

IRF4 (chronic lymphocytic leukaemia and Hodgkin lymphoma)

40
Q

Does IRF4 affect disease progression?

A

NO

41
Q
A

Genetics and Human Disease (16 decks)

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