The US Preventive Services Task Force recommends BRCA testing for women in the following groups.
For Ashkenazis, a woman who has:
- Any first degree relative (siblings, parents, daughters/sons) with breast or ovarian cancer
- Two second degree relatives (grandparents, grandchildren, aunts/uncles, nieces/nephews, half-siblings) with breast or ovarian cancer
For Non-Ashkenazi, a woman who has:
- Two first degree relatives with breast cancer
- Three or more first- or second- degree relatives with breast cancer
- Both breast cancer and ovarian cancer among first- and second- degree relatives
- A first degree relative with bilateral breast cancer
- Two or more first- or second- degree relatives with ovarian cancer
- A male relative with breast cancer
Women with no family history of either breast or ovarian cancer are not recommended to be tested.
If BRCA1 mutation is detected, there is a 57% chance of developing breast cancer and a 40% chance of developing ovarian cancer before the age of 70. If BRCA2 mutation is detected, then there is a 49% and 18% chance of developing the respective malignancies.
According to the American Cancer Society guidelines, women who test positive for BRCA mutation should consider breast and gynecological exams every 6 months. Annual MRI of breasts which have a sensitivity of 75% for detection of breast cancer are recommended starting at age 30. A mammogram is not recommended before age 35 due to concern that ionizing radiation may induce malignant changes in BRCA carriers. The combination of MRI, mammogram, and breast ultrasound increases the sensitivity of detection to 95%.
Although it may be a difficult decision, surgical options should be considered for more definitive cancer risk reduction. A bilateral mastectomy (breast removal) reduces the risk of breast cancer by 90%. A bilateral salpingo-oopherectomy (ovary and tube removal ) reduces the risk of ovarian cancer by 80% and breast cancer is reduced by 50%.
References: The Medical Letter, Vol 49, Issue 1274, November 19, 2007. Also see above links.