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Genetics > Cancer > Flashcards

Cancer Flashcards

1
Q

What genes are involved in colorectal cancer

A

HNPCC (5%)
FAP (1%)
CRC syndrome <0.1%

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2
Q

What can cancer be classed as

A

Hereditary
Familial
Sporadic

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3
Q

What is a germline mutation

A

Mutation in egg or sperm so all cells in offspring affected and causes familial cancer syndrome

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4
Q

What is a somatic mutation and what increases change

A

Occurs in non-germline tissue and non-heritable
Usually what causes cancer

Sun / smoking increase risk

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5
Q

What is an oncogene and tumour suppressor

A

A mutated gene involved in normal cell growth which has potential to cause cancer
1 mutation enough to cause cancer if dominant

Tumour suppressor = a mutation in gene that stops damaged cells

Two hit hypothesis
1st mutation = carrier
2nd mutation = cancer
If have inherited cancer gene you already have 1st mutation

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6
Q

What causes colon cancer

A 
Loss of APC gene = hyper-proliferation + adenoma 
Activation of K-ras 
Loss of 18q 
Loss of TP53 
Leads to cancer

Can be sporadic - need two hits
HNPCC
FAP
Having genetic predisposition means you have 1st hit

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7
Q

What is HNPCC / Lynch syndrome

A

Mutation in mismatch repair genes so mismatched base pairs go unprepaired e.g. MSH2, MSH6
1 in 300 people

Usually have 2 copies of each mismatch repair genes
If get mutation in each copy will no longer be able to repair the gene so accumulate

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8
Q

What cancers is HNPCC indicated in

A 
Colorectal = most common 
Endometrial = most common 
Urinary
Ovarian
Gastric 
Pancreas
Prostate
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9
Q

How do you prevent HNPCC leading to cancer

A

2 yearly colonoscopy from age 25
- Typically get early CRC in proximal colon
Screen for H.pylori
Screening for ovarian / endometrial not recommended but once family complete can discuss hysterectomy
Yearly urine cytology + USS from 35 if MSH2

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10
Q

What is Li-Fraumeni syndrome

A

Inherited familial predisposition to range of cancer - Breast / CNS / osteosarcoma / leukaemia / sarcoma / adrenal
Mutation in TP53 gene

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11
Q

What type of inheritance is there

A

Autosomal dominant
Mendelial
X-linked recessive

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12
Q

When do you suspect hereditary cancer

A 
Cancer in 2 or more close relatives
Early age at Dx
Multiple primary tumour
Bilateral or rare
Unusual presentation e.g. Male breast
Rare tumour 
Evidence of autosomal dominant
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13
Q

What is the process when hereditary suspected

A 
Obtain FH and verify 
Confirm Dx
Risk estimation + explain
Counselling 
Intervention - screening / surgery 
Follow up 
Genetic testing in high risk
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14
Q

What is the options in breast Ca surveillance

A

Breast awareness
Clinical surveillance 5 years before 1st Ca
Mammography at 35
MRI if very high risk
Prophylactic mastectomy or tamoxifen balanced with VTE / endometrial cancer risk

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15
Q

What is surveillance options for CRC

A

High risk = 2 year colonoscopy from 25

Moderate = 45 + 55

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16
Q

When is a prophylactic oophorectomy offered

A

HNPCC / BRCA 1 + 2
or 2+ FH
Requires HRT till 50 as induce surgical menopause

17
Q

What are the options when risk of cancer

A

Lifestyle changes
Surveillance
Screening
Surgery

18
Q

What is Fanconi syndrome

A

Autosomal recessive
Adult type cancers at younger age
Aplastic anaemia

19
Q

What is neurofibromatosis

A

Neurofibroma

Sarcoma / leukaemia

20
Q

What does Down’s have increased risk of

A

Leukaemia

21
Q

What is FAP

A

AD mutation in APC tumour suppressor gene which causes patient to be more at risk of developing polyp / bowel cancer
Colon is full of polyp
Develop adenomas and at risk of becoming cancer at young age
Can get polyps in other areas of body

22
Q

What do you do if Dx

A

Take a blood sample to look for alteration
If found then can test other family members and if positive = regular check
If don’t find them just do regular colonoscopy
Surveillance annual sigmoidoscopy from puberty
If polyp found = biopsy
Prophylactic surgery usually <25 depending on polyp number, size and dysplasia to remove colon
If not developed by 40 probably don’t have condition

23
Q

What is Peutz Jegher

A

Haemtamotous polyps

Leads to increased risk of GI cancer / breast / colorectal

24
Q

What is BRCA 1+2

A

AD germ line mutation

Tumour suppressor gene

25
Q

What increased risk of cancers developing and what is offered

A

Breast = 80%
Ovarian = 40%
Also increased risk of prostate, pancreatic and peritoneal

Annual MRI / mammogram
Prophylactic mammectomy + oophorectomy

26
Q

When do you refer for genetics

A 
1st degree breast <40
Male breast
Bilateral breast <50 
1st and 2nd degree with breast or ovarian
Multiple at young age 
Known gene
27
Q

What criteria for whether person is at risk of Lynch HNPCC

A

Amsterdam
3+ relative associated cancer
2 generation
1+ cancer Dx <50

28
Q

How can you test

A

Immunohistochemistry - staining tumour sample

Microsatellile instability of tumour sample

29
Q

Is MSI positive what does this mean

A

Germline e.g. due to Lynch or somatic mutation in mismatch repair causing sporadic cancer

30
Q

How do you confirm germ line after immunohistochemistryo or MRI suggest

A

Sequence germ line DNA looking for mutation

31
Q

What do NICE recommend for all bowel cancer

A

Screen for Lynch using MSI or immunohistochemistry

32
Q

When is FPA likely

A

Several member family colon cancer or polyp
A relative with many polyp
A relative with colon cancer at young age with polyp

33
Q

What must you weight up if BRCA +ve

A

Increased breast cancer risk on COCP

Decreased ovarian if on COCP

34
Q

What is pharmacogenomics

A

Can do assay to look for presence of absence of particular somatic mutations to see if patient will respond to therapy
CML - Philadelphia
Colorectal - KRAS

35
Q

What does any man with breast cancer need

A

BRCA 2 test

36
Q

What are options after referral to genetics / mutation +VE

A

Surveillance
Prophylactic surgery
Chemo-prevention
Family follow up

37
Q

What can be used to monitor treatment of leukaemia

A

CYtogenetics
FISH
PCR

38
Q

What is Peutz Jeugher

A 
AD
Numerous haemartous polyp
Pigmented lesions lips, face, palms
Intestinal obstruction - intussception
GI bleed

Genetics (5 decks)

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