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Inherited cancers Flashcards

(50 cards)

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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 ->

Study These Flashcards
A

pTEN - trichilemmomas
- cowdens syndrome

22
Q

Tests of familial predisposition to cancer

Study These Flashcards
A

Germline single gene or gene panel
MSI/IHC

23
Q

Options if found to ahve gene increasing risk of cacner

Study These Flashcards
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

Study These Flashcards
A

Radiation exposure eg CT scans

25
Which gene mutation risk specifically improves with aspirin
Colorectal cancer - Lynch syndrome
26
Goals of large scaling screening for cancer
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
Benefits of cancer screening
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
Harms of large sclae cancer screening
False positives or negatives Tests may be invasive Insurance implications Pscyholgocial implications
29
Epidemiology of breast cancer
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
NHS breast screening programme when offered
50-71st birthday every 3 years >71 still eligible but need to self refer
31
Bowel cancer epidemiology
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
What is retinoblastoma
Inherited cancer of the eye Most common ocular malignancy in children
33
Who gets retinoblastoma
Most commonly infants - average age fisangosis is 18 months
34
What causes retinoblastoma
Autosomal dominant inheritance of Retinoblastoma tumour supressor gene loss of function on chromosome 13 10% cases are hereditary, others are spontanous
35
Clinical features of retinoblastoma
Absence of red-reflex replaced by white pupil - leukocoria Strabismus Visual problems
36
Managmenet of retinoblastoma
Enucleation only treatment Depends on how advanced tumour is - can do external beam radiation therapy, chemotherapy, photocoagulation
37
What is li fraumeni syndrome and what is it caused by
Mutatuon in tumour supressor gene 53 Cant stop malignancies 1 in 4 inherited
38
Features of li fraumeni syndrome
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
Chance of developing cancers with li-fraumeni syndrome
nearly 100% if female of breast cancer in lifetime 90% of any cancer over lifetime 50% cahnce by age of 30
40
Crtieria for li fraumeni syndorme
Sarcoma < 45 First degree relatives any cancer <45 Second relatives as above
41
Managemnet of li fraumeni sundrome
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
What gene causes FAP
APC gene mutation 80% cases Dominant
43
Management of FAP
Flexible sigmoidoscoy from 15 years If no polyps - 5 yearly from 20 If polyps -> resectional surgery
44
What is peutz-jeghers syndrome
Multiple benigin intestinal hamartomas Episodic obstruction and intussusception, increased risk of GI cancers and gonadal cancers
45
Management of peutx jeghers syndorme
Annual examination Pan intestinal endoscopy every 2-3 years
46
What causes peutx jeghers syndrome
STK11 - LKB11 mutation on chromosme 19
47
What is cowden disease
Mutation of PTEN fene on 10q22 chromosome, dominant
48
Feautres of cowdens syndrome
Macrocephaly Multiple intestinal hamartomas Multiple trichilemmomas 89% risk of cancer at any site 16% risk colorectal Breast cancer 80% Thyroid, uterine cancer
49
Lynch syndrome features
Colorectal cancer, enometrial, gastric Scanty colonic pouos Colonic tumours tend to be R side and mucinous Extra colonic cancers
50

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