Cancer Syndromes

Question 1

What type of genes are BRCA?

Answer 1

Tumor suppressor genes - encode proteins that function in the DNA repair process

Question 2

Risk of Breast Ca in BRCA1 mutation?

Answer 2

60%

Question 3

Risk of Breast Ca in BRCA 2 mutation?

Answer 3

50%

Question 4

Risk of Ovarian Ca in BRCA1?

Answer 4

40%

Question 5

Risk of Ovarian Ca in BRCA2?

Answer 5

20%

Question 6

Cancers associated w/ BRCA1?

Answer 6

Breast (60%)
Ovarian (40%)
Prostate (16%)
Pancreatic (1-3%)
Melanoma?
Possible serous uterine

Question 7

Cancers associated w/ BRCA2?

Answer 7

Breast (50%)
Ovarian (20%)
Prostate
Pancreatic
Melanoma

Question 8

Which is more sensitive for breast cancer: mammo or MRI?

Answer 8

MRI w/ contrast

Highest sensitivity is MRI, Mammo, and clinical breast exam together for detection of breast cancer in BRCA mutation

Question 9

Which BRCA mutation has predominantly estrogen receptor positive types?

Answer 9

BRCA2

*Tamoxifen has not been found to reduce the risk of breast cancer among BRCA1 (likely reflects the lower prevalence of ER pos cancer)

Question 10

OCP use decreases your risk of epithelial ovarian cancer by how much?

Answer 10

50%

Question 11

A BRCA mutation carrier has a PPx BSO - how much does this reduce her risk?

Answer 11

80%

Question 12

Lynch Syndrome has the highest lifetime risk of which cancers?

Answer 12

Colon (10-47%)

Endometrial (16-71%)

Question 13

Mutated genes in Lynch Syndrome

Answer 13

MLH1
MSH2
MSH6
PMS2

*DNA mismatch repair genes

Question 14

Screening recs for Lynch Syndrome?

Answer 14

Colonscopy Q1-2years starting at Age 20-25

Em Bx Q1-2 years starting at Age 30

Annual pelvic exam/TVUS
+/- CA125 Q 6 months
starting at age 30 (no benefit for ovarian cancer)

Question 15

Risk reduction for Lynch Syndrome?

Answer 15

OCPs reduce Em Ca by 50%

TLH, BSO after childbearing, or by Age 40-45

**PRE OP EM BX IS WARRANTED!

Question 16

When is Trastuzumab best used in the adjuvant treatment of breast cancer?

Answer 16

Her2 Neu Positive

Question 17

If a patient with a known BRCA2 mutation undergoes a prophylactic bilateral salpingo-oophorectomy (BSO), by how much is her risk of epithelial ovarian cancer REDUCED

Answer 17

80%

Question 18

Breast cancer screening in pt with BRCA1/2?

Answer 18

Age 25 CBE Q6 months, annual MRI w/ contrast
Age 30 annual MRI and mammogram (alternating Q6 months)

Question 19

How do you perform a risk reducing BSO for BRCA carrier?

Answer 19

1. Explore entire abdomen!
2. Pelvic washings
3. Take 2 cm of IP
4. Serial section on pathology & send separately

Question 20

Chances of cancer being found on a risk reducing BSO in BRCA patient?

Answer 20

3% chance cancer is found at time of procedure