BRCA

Question 1

What are BRCA 1/2 genes responsible for causing?

Answer 1

Most frequent monogenic causes for hereditary breast cancers.

Question 2

How many of familial breast cancers do BRCA genes account for?

Answer 2

20%

Question 3

What percentage does BRCA genes contribute to all breast cancers?

Answer 3

2%

Question 4

What are the BRCA genes role?

Answer 4

BRCA genes are involved in DNA repair and regulating transcription.

Question 5

What does it mean if the BRCA gene becomes pathogenic and what does it increase the risk of?

Answer 5

Disease causing pathogenic or likely pathogenic variants increase the risk of developing certain cancers.

Question 6

In what founder populations are the pathogenic variants in BRCA genes common in?

Answer 6

Ashkenazi Jewish and Polish

Question 7

Describe ways of managing breast and ovarian cancer carriers.

Answer 7

• Research
• Risk reducing surgeries
• Screening
• Chemoprevention for BRCA2 carriers
• BRCA register

Question 8

How are male BRCA2 carriers managed?

Answer 8

Annual PSA tests

Question 9

What is are the clinical syndromes of BRCA 1 and 2?

Answer 9

Hereditary breast and ovarian cancer

Question 10

What percentage is the lifetime breast cancer risk for BRCA 1 and 2 carriers?

Answer 10

57%

Question 11

What percentage is the lifetime ovarian cancer risk for BRCA 1 and BRCA 2 carriers respectively?

Answer 11

BRCA 1 -> 40%

BRCA 2 -> 18%

Question 12

What does BRCA 2 increase the risk of?

Answer 12

Increases the risk of second primary breast and male breast cancer.

Question 13

What are the other cancer risk of BRCA 1 and 2 genes?

Answer 13

Prostate (5 to 9 fold increase)
Pancreatic (2 to 4 fold increase)
Colorectal, skin (melanoma), endometrial, gastric and biliary cancer.

Question 14

What are types of breast cancer screening?

Answer 14

Advice of breast awareness
Annual mammography 40-70 yrs - review at 70
Annual MRI 30-50 years
No breast screening for male carriers

Question 15

What types of ovarian cancer screening?

Answer 15

Ovarian screening is not recommended

Question 16

Other cancer screenings?

Answer 16

No screening is recommended for other cancers

Carriers may be eligible for screening in research studies

Question 17

What is the difference between chemoprevention between BRCA 1 and BRCA 2 carriers?

Answer 17

Not appropriate to offer chemoprevention to BRCA 1 carriers.

Discuss benefits and side effects with BRCA2 carriers. Can be offered if no contra-indications.

Question 18

Describe breast cancer risk reducing surgery.

Answer 18

Discuss bilateral risk-reducing mastectomy

• Breast cancer risk reduction 90-95%
• Refer to surgeon to discuss surgical options

Question 19

Describe ovarian risk reducing surgery and what should be discussed?

Answer 19

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

Question 20

When should HRT be offered?

Answer 20

HRT should be offered until age 50 in women who have not had ER positive breast cancer.

Question 21

Name BRCA 1 and BRCA 2 breast, ovarian, male breast, prostate and unilateral breast cancer risks.

Answer 21