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Genomics > BRCA1/2 breast and ovarian cancer > Flashcards

BRCA1/2 breast and ovarian cancer Flashcards

1
Q

Low risk screening for breast cancer

A

Discharged back ti referrer
NHS breast screening 50-70

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2
Q

Moderate risk breast cancer actions taken

A

Seen in clinic/discharged w advice letter
Annual mammography 40-50 years
NHS breast screening programme 50-70 and 70+
Chemoprevention advice eg tamoxifen, reloxifen, aromatase inhibitors

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3
Q

Most common cancers referred to genetics

A

Breast, bowel, ovarian

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4
Q

Criteria for family history of cancer

A

Young age at onset
Number/pattern of similar tumours one side family
Multiple primaries in one individual
Type of cancer eg triple negative breast cancer
Ethnicitiy eg chinese, indian, ashkenazi jewish ancestry
Results of genetic testing

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5
Q

What should be done for women at high risk of breast cancer

A

Seen in clinic
Annual mammography 40-60 years
Genetic testing
Chemoprevention advice
NHS screening breast
Risk reducing surgical options MAY be discussed

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6
Q

Chemoprevention breast caner

A

tamoxifen, reloxifen, aromatase inhibitors

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7
Q

What is offered to patients at very high risk of breast cacner eg BRAC1 families

A

Seen in clinic, genetic testing
Chemoprevention advice
Annual MRI from 30-50
Annual mammography 40-70
NHS breast screening 70+
Bilateral risk reducing mastectomy
Prophylactic bilatieral salpingo-oopherectomy - BSO - ovarian

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8
Q

What can be offered if high lifetime risk of voarian cancer

A

Prophylactic bilateral salpingo-oopherectomy (BSO) if high lifeimte risk of ovarian cancer
Considered from 40 onwards

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9
Q

Who is the v high risk category breast cancer

A

Known gene alteratino
>30% probability of BRCA/PALB2 alterations
TP53 - annual MRI from 20-70

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10
Q

Who is chemoprevention for inherited breast cancer not typically recommended in

A

BRCA1 alterations

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11
Q

What patients are low risk of inherited breast cancer

A

Older age of onset
Different sides of family
NHS breast screening 50-70 and 70+

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12
Q

When is BRCA 1/2 indicated in breast cancer

A

Manchester >15 (10% likleihood for BRCA variant)

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13
Q

What is the manchester scoring system

A

Probability of presence of BRCA1/2 genes in families w sus hereditary breast and ovarian cnacer

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14
Q

Who should be offered BRCA testing

A

MSS >15
Triple negative breast cancer <50 years

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15
Q

What is offered to women of ashkenazi jewish heritage with breast cancer

A

testing for 3 ashkenazi founder mutations
Full screen if meet other criteria

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16
Q

What genes can be considered for testing in potentially inhertied breast cancer

A

PALB2, BRCA1/2, TP53, StK11, CDH1, PTEN if appropraite

17
Q

When is BRCA1/1 considered in a non affected person

A

No living affected person available for testing
MSS >20
1st degree relative affected w relevant cancer

18
Q

Current options for breast cancer screening

A

Single mutation predicitve test - if known mutation in family
Standard panel test - BRCA1/2/PALB2 if FHx 10% chance
Bespoke panel test

19
Q

Future options for breast and ovarian cancer teaching

A

Large anel testing
Polygenic risk scores

20
Q

What does TP53 gene mutation cause

A

Li fraumeni

21
Q

What gene causes cowden syndorme

A

PTEN

22
Q

What does CDH1 cause

A

Hereditary diffuse gastric cancers
Multilobular breast cancer

23
Q

What syndrome dose STK11 gene cause

A

peutz jeghers

24
Q

Cowden syndrome features

A

Early onset suggestive cacners eg brain tumours, leukaemias, sarcomas
Microcephaly
Autism
Benign skin tumours
Kidney cancer, thyroid cancer

25
Q

When test for BRAC1/2

A

> 10% chance of finding them

26
Q

Why is it important to pick up BRCA families

A

Most common single gene cause of breast cancer
Screening and prevention
Ass w ovarian cancer risk which can be prevented w RR and BSO
BRCA2 ass w other cancers eg male breast, prostate, pancreas

27
Q

Which BRCA gene has high lifetime risk of breast and ovarian cancer

A

BRCA 1

28
Q

Male BRCA2 what do

A

PSA testing from 40
Education about breast cancer symptoms

29
Q

What is bilateral risk reducing mastectomy

A

To prevent breast cancer
95% effective at presenting breast cancer
For single high penetranec BRCA1/2

30
Q

Chemoprophylaxis premenopausal vs postmenopausal women

A

Pre - tamoxifen 5 years
Post - anastrazole 5 years

31
Q

Benefits of risk reducing surgery

A

ONly effective way dramtically reducing risk
Combined w cancer surgery
No screening needed after

32
Q

Cons of risk reducing surgery breast cancer

A

Risks of surgery incl reconstruction
Pscyhological impications
May be unecessary procedure - may never have got breast cancer
Some residual breast cancer risk remains

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