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Genomics > Inherited cancers > Flashcards

Inherited cancers Flashcards

1
Q

What is cancer characterised by

A

Genetic mutation - most is acquited
SOME is inherited

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2
Q

What % of cancer has an inherited component

A

5%

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3
Q

Type of genetic mutations in cancer

A

DNA mutations - single genes
Chromosome number changes
Chromosomal translocation
AMplifications/overexpression of genes

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4
Q

Cancer predisposition geens

A

Tumour supressor genes
Oncogenes

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5
Q

Tumour supressor genes how cause cancer

A

Protective role in repairing cells during growth
If inherited mutation in one allele, ‘second hit; in working copy -> cancer

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6
Q

What are oncogenes

A

Promote growth, often activate during early/embryonic life

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7
Q

When are oncogenes a problem

A

Acquire ‘gain of function’ ef activating mutatations -> proto-oncogenes -> cnacer risk increase

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8
Q

What gene mutation causes multiple endocrine neoplasia type 2

A

Acitvating mutations in MEN 2

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9
Q

What is knudosns hypothesis

A

Tumour supressor genes - second hit to working copy of tumour supressor gene

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10
Q

Retinoblastoma inherited mechanism

A

Inherited mutation in tumour supressor RB1 gene
Acquire seoncd hit easily

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11
Q

Who is at risk of 100% penetrance retinoblasmtomas

A

Bilateral
Family history

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12
Q

Examples of inherited cancer caused by mutation in tumour supressor gene

A

Retinolblastoma - RB1
Li-fraumeni syndrome - TP53
FAP - APC
Breast/ovarian cancer - BRAC1, BRAC2

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13
Q

What does li farumeni syndrome cause

A

Brain tumours
Sarcomas
Leukaemias

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14
Q

How is germline testing done

A

Blood test - purple top
Gene by gene - specific gene in mind
Panel approach - test panel of eg 15 relevant genes
Phenotype agnostic approach - all known cancer genes

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15
Q

What gene can cause diffuse gastric cancer inherited

A

CDH1

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16
Q

PARP inhibitor examples

A

Olaparib, niraparib, rucaparib

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17
Q

MOA of PARPis

A

Inhibit PARP protein (poly-ADP ribose polymerase) which helps damaged cells repair themselves

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18
Q

Tests for genetics in inherited cancers sus

A

Tumour genetic testing
Germline genetic test in family
MSI/IHC testing
Histopathology on other lesions

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19
Q

What test do on colorectal/endometrial tumours for lyng=ch syndrome

A

Micro satellite I
Immunohistochemistry testing

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20
Q

Von hippel lindau syndrome beinign features

A

Benign pancreatic and renal cysts

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21
Q

What syndrome predisposition for cancer -> benign skin tumours can ->

A

pTEN - trichilemmomas
- cowdens syndrome

22
Q

Tests of familial predisposition to cancer

A

Germline single gene or gene panel
MSI/IHC

23
Q

Options if found to ahve gene increasing risk of cacner

A

Extra screneing
Lifestyle advice
Chemoprophylaxis eg tamoxifen, aspirin
Risk reducing surgery options eg bilateral or complete mastectomy, gyanea surgery
Research studies
Patient support groups

24
Q

What specifically avoid if risk of cancer from TP53 mutations

A

Radiation exposure eg CT scans

25
Q

Which gene mutation risk specifically improves with aspirin

A

Colorectal cancer - Lynch syndrome

26
Q

Goals of large scaling screening for cancer

A

Reduce risks, reduce complications of disease
Identify those more likely helped w further tests or treatment
Results, further investigation and treat
Preventative medicien through early diagnosis of at risk and affected individuals

27
Q

Benefits of cancer screening

A

Early detection and better treatment
Identifies at risk individuals - preventative measures put in place
Identify carriers of heritable conditions allow for family planning
Control disease population level
Cost effective

28
Q

Harms of large sclae cancer screening

A

False positives or negatives
Tests may be invasive
Insurance implications
Pscyholgocial implications

29
Q

Epidemiology of breast cancer

A

Most common cancer in UK
1 in 8 women in lifettime
55,000 diagnoses per year
Most are sporadic
<10% are inherited genetic causes

30
Q

NHS breast screening programme when offered

A

50-71st birthday every 3 years
>71 still eligible but need to self refer

31
Q

Bowel cancer epidemiology

A

3rd most common cancer UK
1 in 14 men, 1 in 19 women during lifteime
1 in 4 have FH
5-6% inherited eg FAP, lynch syndrome

32
Q

What is retinoblastoma

A

Inherited cancer of the eye
Most common ocular malignancy in children

33
Q

Who gets retinoblastoma

A

Most commonly infants - average age fisangosis is 18 months

34
Q

What causes retinoblastoma

A

Autosomal dominant inheritance of Retinoblastoma tumour supressor gene loss of function on chromosome 13
10% cases are hereditary, others are spontanous

35
Q

Clinical features of retinoblastoma

A

Absence of red-reflex replaced by white pupil - leukocoria
Strabismus
Visual problems

36
Q

Managmenet of retinoblastoma

A

Enucleation only treatment
Depends on how advanced tumour is - can do external beam radiation therapy, chemotherapy, photocoagulation

37
Q

What is li fraumeni syndrome and what is it caused by

A

Mutatuon in tumour supressor gene 53
Cant stop malignancies
1 in 4 inherited

38
Q

Features of li fraumeni syndrome

A

Several multiple cancers in children and young adults ef soft tissue and bone sarcomas, breast cancer, brain tumours, adrenocortical carcinoma and acute leukaemia
Others - GI, lung, kidnye, thyroid, skin, gonads

39
Q

Chance of developing cancers with li-fraumeni syndrome

A

nearly 100% if female of breast cancer in lifetime
90% of any cancer over lifetime
50% cahnce by age of 30

40
Q

Crtieria for li fraumeni syndorme

A

Sarcoma < 45
First degree relatives any cancer <45
Second relatives as above

41
Q

Managemnet of li fraumeni sundrome

A

every 3 months - complete physical exam and bloodcount, abdo US, pelvic US, urinalysis
Annually - MRI brain and Whole body MRI
Endoscopy, colonoscopy and breast screening

42
Q

What gene causes FAP

A

APC gene mutation 80% cases
Dominant

43
Q

Management of FAP

A

Flexible sigmoidoscoy from 15 years
If no polyps - 5 yearly from 20
If polyps -> resectional surgery

44
Q

What is peutz-jeghers syndrome

A

Multiple benigin intestinal hamartomas
Episodic obstruction and intussusception, increased risk of GI cancers and gonadal cancers

45
Q

Management of peutx jeghers syndorme

A

Annual examination
Pan intestinal endoscopy every 2-3 years

46
Q

What causes peutx jeghers syndrome

A

STK11 - LKB11 mutation on chromosme 19

47
Q

What is cowden disease

A

Mutation of PTEN fene on 10q22 chromosome, dominant

48
Q

Feautres of cowdens syndrome

A

Macrocephaly
Multiple intestinal hamartomas
Multiple trichilemmomas
89% risk of cancer at any site
16% risk colorectal
Breast cancer 80%
Thyroid, uterine cancer

49
Q

Lynch syndrome features

A

Colorectal cancer, enometrial, gastric
Scanty colonic pouos
Colonic tumours tend to be R side and mucinous
Extra colonic cancers

50
Q
A

Genomics (11 decks)

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