BRCA Flashcards
(21 cards)
What are BRCA 1/2 genes responsible for causing?
Most frequent monogenic causes for hereditary breast cancers.
How many of familial breast cancers do BRCA genes account for?
20%
What percentage does BRCA genes contribute to all breast cancers?
2%
What are the BRCA genes role?
BRCA genes are involved in DNA repair and regulating transcription.
What does it mean if the BRCA gene becomes pathogenic and what does it increase the risk of?
Disease causing pathogenic or likely pathogenic variants increase the risk of developing certain cancers.
In what founder populations are the pathogenic variants in BRCA genes common in?
Ashkenazi Jewish and Polish
Describe ways of managing breast and ovarian cancer carriers.
- Research
- Risk reducing surgeries
- Screening
- Chemoprevention for BRCA2 carriers
- BRCA register
How are male BRCA2 carriers managed?
Annual PSA tests
What is are the clinical syndromes of BRCA 1 and 2?
Hereditary breast and ovarian cancer
What percentage is the lifetime breast cancer risk for BRCA 1 and 2 carriers?
57%
What percentage is the lifetime ovarian cancer risk for BRCA 1 and BRCA 2 carriers respectively?
BRCA 1 -> 40%
BRCA 2 -> 18%
What does BRCA 2 increase the risk of?
Increases the risk of second primary breast and male breast cancer.
What are the other cancer risk of BRCA 1 and 2 genes?
Prostate (5 to 9 fold increase)
Pancreatic (2 to 4 fold increase)
Colorectal, skin (melanoma), endometrial, gastric and biliary cancer.
What are types of breast cancer screening?
Advice of breast awareness
Annual mammography 40-70 yrs - review at 70
Annual MRI 30-50 years
No breast screening for male carriers
What types of ovarian cancer screening?
Ovarian screening is not recommended
Other cancer screenings?
No screening is recommended for other cancers
Carriers may be eligible for screening in research studies
What is the difference between chemoprevention between BRCA 1 and BRCA 2 carriers?
Not appropriate to offer chemoprevention to BRCA 1 carriers.
Discuss benefits and side effects with BRCA2 carriers. Can be offered if no contra-indications.
Describe breast cancer risk reducing surgery.
Discuss bilateral risk-reducing mastectomy
- Breast cancer risk reduction 90-95%
- Refer to surgeon to discuss surgical options
Describe ovarian risk reducing surgery and what should be discussed?
Offers risk-reducing bilateral saplingo-oophorectomy, once childbearing is complete.
Discuss:
- Ovarian cancer risk reduction - 55%
- Breast cancer risk reduction - up to 50%
- Side effect: Premature menopause
When should HRT be offered?
HRT should be offered until age 50 in women who have not had ER positive breast cancer.
Name BRCA 1 and BRCA 2 breast, ovarian, male breast, prostate and unilateral breast cancer risks.
