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Every woman is born with the BRCA1 (breast cancer gene 1) and BRCA2
(breast cancer gene 2) genes. When functioning normally, these genes do not pose any risk
to a woman’s health. However, some women may be born with or experience mutations of
the BRCA genes through their lifetime. Though researchers are still uncertain what causes
changes in these genes to occur, women who have BRCA mutations are at increased risk for
developing breast cancer compared with women who do not have these mutations. For example,
a 30-year-old woman with a BRCA mutation has a 1 in 3 chance of developing breast cancer
during her lifetime (compared with a 1 in 8 chance for women without these genetic
mutations). Over a lifetime, women with BRCA mutations have a 50% to an 85% chance of
developing breast cancer.
In 1996, the American Society of
Clinical Oncology recommended that only women with a strong family history of breast
cancer or those who have developed breast cancer at an early age may be eligible for BRCA
genetic testing and most physicians still adhere to this recommendation today. Candidates
for BRCA testing include those women with:
- Breast cancer in two or more close
relatives, such as a mother and two sisters
- Early onset of breast cancer in family
members, often before age 50
- History of breast cancer in more than
one generation
- Cancer in both breasts in one or more
family members
- Frequent occurrence of ovarian cancer
- One or more BRCA positive relatives
- Eastern and Central European (Ashkenazi)
Jewish ancestry, with a family history of breast and/or ovarian cancer (researchers have
identified two types of BRCA1 mutations and one BRCA2 mutation that are especially
prominent in this group)
Though many women who have already
developed breast cancer do not see the need to be tested for BRCA mutations, benefits of
knowing may include: better response to treatment designed for BRCA-positive women and
helping other family members to take preventive measures against breast cancer.
Genetic
Testing is Usually a Three-Step Process
Genetic
Testing Process |
| Step 1:
counseling session
Step 2: blood is drawn and analyzed
Step 3: test
results are discussed |
The first step involves genetic
counseling. In this session, a counselor will discuss the tests, possible risks (such as
psychological effects, employer concerns, insurance difficulties), and what a positive or
negative result means. During the second session, the blood test and genetic analysis will
be performed. At the third session, the results of the test will be discussed with the
patient. Most genetic testing is anonymous; women do not give out their name and are
randomly assigned a number for identification and future contact.
CONTINUED
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