BRCA mutations Flashcards
A 53-year-old white woman, gravida 1, para 1, was treated for breast cancer at age 39 years and is a known BRCA1 carrier. Her 20-year-old daughter has not yet been tested for breast cancer but has had normal cervical smears. The best approach to screen for development of breast cancer in the daughter is:
(A) breast magnetic resonance imaging (MRI) plus mammography
(B) ductal cytology
(C) breast ultrasonography
(D) mammography at age 40 years
(A) breast magnetic resonance imaging (MRI) plus mammography
What are the incidences of breast and ovarian cancer, and how do they differ for BRCA carriers?
Breast 13.2%, ovarian 1.7%
BRCA: breast 36-85%, ovarian 16-60%
What types of patients should be offered a genetic risk assessment for breast/ovarian cancer?
If 20-25% risk of inherited predisposition, definitely offer risk assessment:
- PMH of either cancer
- Ovarian cancer with 1st-3rd degree relative with breast ca <50 yo or ovarian cancer ever
- Ovarian cancer with Ashkenazi Jewish ancestry OR breast cancer <40 yo
- Breast cancer <50 yo and close relative with ovarian/male breast cancer
- 1st-2nd degree relative with known BRCA1-2 mutation
CAN offer risk assessment if 5-10% risk of inherited predisposition:
- Breast cancer <40 yo
- Bilateral breast cancer
- Breast cancer <50 yo and in close relative
- Ashkenazi Jewish ancestry and breast cancer <50 yo
- Breast/ovarian cancer plus 2+ close relatives with breast cancer
- Unaffected women with 1st or 2nd degree relative meeting one of the above criteria
