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Flashcards in BRCA mutations Deck (3)
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1

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

2

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%

3

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