Hereditary ovarian cancer Flashcards
1
Q
What is the lifetime risk of breast cancer?
- BRCA1 carrier
- BRCA2 carrier
A
We quote the range of breast cancer risks in BRCA1 carriers to age 70 to be between 55 and 70 percent, and between 45 and 70 percent in BRCA2 carriers.
2
Q
What is the lifetime ovarian cancer risk?
- BRCA1 carrier
- BRCA2 carrier
A
- 40 to 45 percent for BRCA1 carriers
- 15 to 20 percent for BRCA2 carriers.
3
Q
BRCA1 carrier vs BRCA2 carrier - breast cancer characteristics?
A
- earlier onset (particularly before 50)
- higher lifetime risk of breast cancer than BRCA2
- BRCA1 carriers are more likely to develop a triple-negative breast cancer than BRCA2 carriers or those who are BRCA1/2 mutation negative
- DCIS occurs at an earlier age in BRCA1/2 carriers than in noncarriers
4
Q
Male breast cancer lifetime risk with
- BRCA1
- BRCA2
A
- risk appears to be higher with BRCA2 vs BRCA1 mutations
- In men with a BRCA2 vs BRCA1 vs no BRCA1/2 mutation, the lifetime risk of breast cancer is 7-8% vs 1% vs 0.1%
5
Q
Risk of GYN malignancies with BRCA1/2
- Fallopian tube cancer
- Primary Peritoneal Cancer
- Endometrial
A
- Fallopian tube cancer
- At least 50 percent of serous cancers diagnosed in BRCA1/2 carriers are of distal fallopian tubal origin
- Lifetime risk is 0.6% vs 0.2% (general pop)
- May be underestimated given HGSOC may originate from FT.
- Primary peritoneal cancer
- lifetime risk of 1.3 percent [prob underestimate]
- Endometrial
- uterine papillary serous 1-2% in some studies; overall very low and for BRCA1 (not BRCA2) carriers
6
Q
BRCA1/2 mutations - risk in non-GYN and breast malignancies
- List the other types of cancers
- Give the associated risks
A
- BRCA1/2 mutations have higher risk of the following non-GYN/breast cancers
- Pancreas
- Prostate
- Colorectal
- Biliary
- Gastric
- Melanoma
- Associated risks
- Pancreas [2 - 5x increased risk]
- BRCA1 - 1%
- BRCA2 - 5%
- Prostate
- BRCA1 - 3-4x increased risk (less defined) by age 65 ~ 9% risk
- BRCA2 - 5-9x increased risk by age 65 ~ 33% risk
- Colorectal - inconsistent data but BRCA1 suggests higher risk (possible 2x)
- Melanoma - higher risk in cutaneous and uveal melanoma for BRCA2 (not BRCA1)
- Increased risk in stomach and biliary for BRCA2 (not BRCA1)
- Pancreas [2 - 5x increased risk]
7
Q
A