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Medicine Term One > Genetic predisposition to cancer > Flashcards

Genetic predisposition to cancer Flashcards

1
Q

What do most cancers arise from

A

Genetic mutations either sporadic or inherited

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2
Q

What kind of cancer mutation is non inheritable

A

somatic

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3
Q

What causes germ-line mutations

A

Hereditary -present in egg or sperm of parents

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4
Q

What are tumours

A

clonal expansions

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5
Q

What are the three genetic processes associated with cancer syndromes

A

Oncogenes
Tumour suppressor genes
DNA damage-response genes

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6
Q

What are oncogenes

A

Mutated proto-oncogens that accelerate cell division

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7
Q

How many mutations are needed to active oncogenes

A

1

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8
Q

What is the role tumour suppressor genes

A

Inhibit cell growth
promote apoptosis
Cells breaks

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9
Q

When does cancer arrive with tumour suppressor genes

A

when both tumour suppressor genes fail

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10
Q

Where does the two hit in tumour suppressor genes occur resulting from carrier to cancer

A

first - germ line (carrier)

second - tumour formation

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11
Q

What do DNA damage-response genes do

A

The repair mechanics for DNA

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12
Q

When does cancer arrive from DNA damage-response genes

A

both genes fail, speeding the accumulation of mutations in other critical genes

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13
Q

Give an example of a DNA damage response gene MMR

A

failure to mismatch due to single base mismatches or short insertions and deletions leads to accumulation of nucleotide repeats - Microsatellite instability

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14
Q

What is the evidence that DNA damage response genes aren’t working

A

Microsatellite instability

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15
Q

What is de novo mutations

A

mutations occurring in there germ line of parents with no family history of hereditary cancer

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16
Q

How do we look for inherited cancers

A

family history

17
Q

What are most cancer susceptible genes

A

autosomal dominant with incomplete penetrance - therefore have genes but do not show the symptoms

18
Q

What is sporadic cancer

A

cancer by chance

19
Q

If tumours are heritable they are usually bilateral with increases the risk of what and why

A

secondary primer

because every cell carries the mutation

20
Q

How is Retinoblastoma cancer occur

A

due to heritable or non heritable tumour supressor genes

21
Q

What are the risks factors for breast cancer

A 
Ageing 
Family history 
Hormones - late menopause/pill/HRT
Dietary factors 
Lack of exercise
22
Q

What is the most likely and second most likely gene to causes breast cancer and by what mutation

A

BRCA 1 then BRCA2

spordic

23
Q

What is BRCA1 genes functions

A 
Checkpoint mediator

DNA damage signalling and repair

Chromatin remodelling (inactive Xchromosome)
24
Q

What is BRCA2s functions

A

DNA repair by HR (homologous recombination)

25
Q

What else can BRCA1/2genes cause

A

Secondary breast cancer
Ovarian cancer
Male breast cancer

26
Q

What cancer conditions can arise from tumour suppressor gene

A

Breast cancer
ovarian cancer
Retinoblastoma

27
Q

What are the risk factors for colorectal cancer

A 
Ageing
Personal history of CRC or adenomas
High-fat, low-fibre diet
Inflammatory bowel disease
Family history of CRC
28
Q

How does Hereditary nonpolyposis colorectal cancer occur

A

DNA Mismatch Repair of HNPCC gene

29
Q

what does polyposis and non polyposis mean

A

multiple adenomas present

No adenomas - but there is a risk of development

30
Q

Lynch syndrome aka HNPCC is what

A

autosomal dominant genetic condition that has a high risk of colon cancer

31
Q

What gene causes severe polyposis in colon cancer

A

FAP - familial adenomatous polyposis

32
Q

What is clinical features of HNPCC

A

Tumor site throughout colon rather than descending colon

Extracolonic cancers: endometrium, ovary, stomach, urinary tract, small bowel, bile ducts, sebaceous skin tumors

33
Q

Clinical Features of FAP

A

Estimated penetrance for adenomas >90%
Risk of extracolonic tumors
Untreated polyposis leads to 100% risk of cancer

34
Q

What is autosomal recessive cancer syndrome and example

A

need to Inherit copies in both parents to show symptoms e.g. MYH polyposis

35
Q

What explains a family with history of cancer but no identified mutation

A

Multiple modifier genes of lower genetic risk

36
Q

How are cancer risk in Adenomatous Polyposis syndromes treated

A

Surveillance
Surgery
Chemoprevention

Medicine Term One (59 decks)

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