Among women, the lifetime risk of developing breast cancer is 1 in 8, and this disease is the second leading cause of cancer deaths (after lung cancer). The presence of a mutation (inherited abnormality) in breast cancer susceptibility gene 1 or 2 (BRCA1/2) significantly increases the risk of breast and ovarian cancers.
BRCA mutations are autosomal dominant, meaning that they affect 50% of a gene carrier's offspring. These mutations are present only in 5% of women who are diagnosed as having breast cancer. However, their presence may increase the lifetime risk of breast cancer to between 40% and 85% and of ovarian cancer to between 20% and 50%. It also increases the risk of prostate and breast cancer in men who carry these genes.
The presence of a BRCA mutation is determined by genetic testing of a small blood sample. A woman should consider testing if in her family (such as mother, daughter, sister, grandmother, or aunt) there are any of the following:
3 relatives with breast cancer
2 relatives with breast cancer if at least 1 was diagnosed at age 50 years or younger
Cancer diagnosed in both breasts
Ovarian cancer, especially if there is more than 1 relative or there is also breast cancer in the family
Breast cancer in a male relative
Women who fit these criteria should consult with their doctor.
If a woman has a breast cancer removed that is triple-negative (a tumor with no estrogen, progesterone, or growth factor receptors) or she has Ashkenazi Jewish ancestors, she should consider genetic counseling and testing.
The risk of having a BRCA1/2 mutation in the general population is about 1 in 400. However, in the Ashkenazi Jewish population, it is 10 times higher (about 1 in 40). The individual risk of having a BRCA1/2 mutation can be assessed using one of many calculators accessible through your doctor.
Women with BRCA mutations should have early and regular breast examinations that may include mammograms and breast magnetic resonance imaging (MRI), as well as oncologic and genetic counseling. BRCA carriers may also consider undergoing prophylactic (preventive) mastectomy (breast removal) or ovariectomy (ovary removal). BRCA carriers who are considering childbirth may opt for egg-harvesting procedures with genetic testing to exclude BRCA mutations affecting their children.
Lumpectomy (resection of tumor from the breast) followed by chemotherapy and radiation is the usual treatment for BRCA1/2 carriers with breast cancer. But because of increased risk of second tumor development in the same or the other breast, a woman may consider prophylactic bilateral mastectomy, particularly if she is young and a carrier of BRCA1. Chemoprophylaxis (tamoxifen) and/or ovariectomy may decrease the risk of second breast cancer development.
With screening mammograms and breast MRIs, timely treatment, and/or prophylactic surgery, the life expectancy in BRCA carriers approaches the life span of noncarriers.
National Cancer Institutewww.cancer.gov/cancertopics/factsheet/Risk/BRCA
To find this and previous JAMA Patient Pages, go to the Patient Page link on JAMA 's Web site at www.jama.com. Many are available in English and Spanish.
Sources: National Cancer Institute at the National Institutes of Health
The JAMA Patient Page is a public service of JAMA. The information and recommendations appearing on this page are appropriate in most instances, but they are not a substitute for medical diagnosis. For specific information concerning your personal medical condition, JAMA suggests that you consult your physician. This page may be photocopied noncommercially by physicians and other health care professionals to share with patients. To purchase bulk reprints, call 312/464-0776.
Topic: CANCER GENETICS
Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature
Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal
Instructions
Comments are moderated and will appear on the site at the discretion of the Journal of American Medical Association editors. Comments should not exceed 500 words of text and 10 references.
Do not submit personal medical questions or information that could identify a specific patient, questions about a particular case, or general inquiries to an author. Only content that has not been published, posted, or submitted elsewhere should be submitted. By submitting this Comment, you and any coauthors transfer copyright to the journal if your Comment is posted.
* = Required Field
Disclosure of Any Conflicts of Interest* Indicate all relevant conflicts of interest of each author below, including all relevant financial interests, activities, and relationships within the past 3 years including, but not limited to, employment, affiliation, grants or funding, consultancies, honoraria or payment, speakers’ bureaus, stock ownership or options, expert testimony, royalties, donation of medical equipment, or patents planned, pending, or issued. If all authors have none, check "No potential conflicts or relevant financial interests" in the box below. Please also indicate any funding received in support of this work. The information will be posted with your response.
Register and get free email Table of Contents alerts, saved searches, PowerPoint downloads, CME quizzes, and more
Subscribe for full-text access to content from 1998 forward and a host of useful features
Activate your current subscription (AMA members and current subscribers)
Some tools below are only available to our subscribers or users with an online account.
Download citation file:
Customize your page view by dragging & repositioning the boxes below.
and access these and other features:
Register Now
Enter your username and email address. We'll send you a reminder to the email address on record.
Athens and Shibboleth are access management services that provide single sign-on to protected resources. They replace the multiple user names and passwords necessary to access subscription-based content with a single user name and password that can be entered once per session. It operates independently of a user's location or IP address. If your institution uses Athens or Shibboleth authentication, please contact your site administrator to receive your user name and password.