BRCA Genes: What Is Your Risk as a Carrier of 'the Breast Cancer Gene?'
What is 'the breast cancer gene' BRCA?
BRCA 1 and 2 are normally occurring genes in humans. Several genetic
mutations (alterations in the body's genetic material) have
been identified which are associated with the development of breast and ovarian cancer.
Changes in BRCA1
and BRCA2, can be inherited and lead to a
markedly increased risk for developing
breast cancer and ovarian
Who carries the BRCA gene mutation?
Only about 5% of women with breast cancer are found to carry a mutated BRCA gene. Studies have confirmed that women who carry these BRCA mutations have a high risk for development of breast cancer, about five times that of women who do not have BRCA gene alterations. Overall, around 12% of all women will get breast cancer during their lifetime; in contrast, around
55%-65% of women with a BRCA1 mutation and 45 % with a BRCA2 mutation will get the disease. Having a BRCA mutation also predisposes a woman to developing breast cancer at an early age (before menopause). The incidence of BRCA mutation is higher in some ethnic groups, such as people of Ashkenazi (European) Jewish origin and in some populations in Iceland, the Netherlands, and Norway.
BRCA gene testing
Testing for alterations in a person's BRCA1 or BRCA2
gene is done via a blood
sample. If you have a family history of breast and/or
ovarian cancer, your doctor can help you decide whether BRCA testing might be
appropriate for you. Women who do test positive for BRCA mutations have multiple
options to decrease the likelihood of developing cancer. These options include
more frequent cancer screenings, avoidance of other known risk factors,
prophylactic surgery (removal of breasts or ovaries), and preventive drug
What other risks to BRCA mutation carriers face?
BRCA mutations also increase the risk of ovarian cancer. About 1.7% of women in the general population get ovarian cancer as compared with 40% of women with BRCA1
and 11% to 17% of women with a BRCA 2 mutations. Both male and female carriers of these mutant genes have a slightly increased risk for the development of other kinds of cancer, including stomach cancer, gallbladder and bile duct cancer,
uterine cancer, colon cancer, prostate cancer, melanoma, and pancreatic cancer.
Medically reviewed by Jay B. Zatzkin, MD; American Board of Internal Medicine with subspecialty in Medical Oncology
National Cancer Institute. BRCA1 and BRCA2: Cancer Risk and Genetic Testing.
Medically Reviewed by a Doctor on 9/11/2017
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