BRCA1/2 breast and ovarian cancer Flashcards
Low risk screening for breast cancer
Discharged back ti referrer
NHS breast screening 50-70
Moderate risk breast cancer actions taken
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
Most common cancers referred to genetics
Breast, bowel, ovarian
Criteria for family history of cancer
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
What should be done for women at high risk of breast cancer
Seen in clinic
Annual mammography 40-60 years
Genetic testing
Chemoprevention advice
NHS screening breast
Risk reducing surgical options MAY be discussed
Chemoprevention breast caner
tamoxifen, reloxifen, aromatase inhibitors
What is offered to patients at very high risk of breast cacner eg BRAC1 families
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
What can be offered if high lifetime risk of voarian cancer
Prophylactic bilateral salpingo-oopherectomy (BSO) if high lifeimte risk of ovarian cancer
Considered from 40 onwards
Who is the v high risk category breast cancer
Known gene alteratino
>30% probability of BRCA/PALB2 alterations
TP53 - annual MRI from 20-70
Who is chemoprevention for inherited breast cancer not typically recommended in
BRCA1 alterations
What patients are low risk of inherited breast cancer
Older age of onset
Different sides of family
NHS breast screening 50-70 and 70+
When is BRCA 1/2 indicated in breast cancer
Manchester >15 (10% likleihood for BRCA variant)
What is the manchester scoring system
Probability of presence of BRCA1/2 genes in families w sus hereditary breast and ovarian cnacer
Who should be offered BRCA testing
MSS >15
Triple negative breast cancer <50 years
What is offered to women of ashkenazi jewish heritage with breast cancer
testing for 3 ashkenazi founder mutations
Full screen if meet other criteria
What genes can be considered for testing in potentially inhertied breast cancer
PALB2, BRCA1/2, TP53, StK11, CDH1, PTEN if appropraite
When is BRCA1/1 considered in a non affected person
No living affected person available for testing
MSS >20
1st degree relative affected w relevant cancer
Current options for breast cancer screening
Single mutation predicitve test - if known mutation in family
Standard panel test - BRCA1/2/PALB2 if FHx 10% chance
Bespoke panel test
Future options for breast and ovarian cancer teaching
Large anel testing
Polygenic risk scores
What does TP53 gene mutation cause
Li fraumeni
What gene causes cowden syndorme
PTEN
What does CDH1 cause
Hereditary diffuse gastric cancers
Multilobular breast cancer
What syndrome dose STK11 gene cause
peutz jeghers
Cowden syndrome features
Early onset suggestive cacners eg brain tumours, leukaemias, sarcomas
Microcephaly
Autism
Benign skin tumours
Kidney cancer, thyroid cancer
When test for BRAC1/2
> 10% chance of finding them
Why is it important to pick up BRCA families
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
Which BRCA gene has high lifetime risk of breast and ovarian cancer
BRCA 1
Male BRCA2 what do
PSA testing from 40
Education about breast cancer symptoms
What is bilateral risk reducing mastectomy
To prevent breast cancer
95% effective at presenting breast cancer
For single high penetranec BRCA1/2
Chemoprophylaxis premenopausal vs postmenopausal women
Pre - tamoxifen 5 years
Post - anastrazole 5 years
Benefits of risk reducing surgery
ONly effective way dramtically reducing risk
Combined w cancer surgery
No screening needed after
Cons of risk reducing surgery breast cancer
Risks of surgery incl reconstruction
Pscyhological impications
May be unecessary procedure - may never have got breast cancer
Some residual breast cancer risk remains
