Be Bright Pink

donate now
About Educate Expert Panel Events Forum Get Involved Press

FACTS
BREAST CANCER AND YOUNG WOMEN
RISK FACTORS AND PREVENTION
EARLY DETECTION AND SCREENING
GENETIC TESTING
OPTIONS FOR HIGH RISK WOMEN
Brease Surgery and Reconstruction
Q & A
Q & A


GENETIC TESTING
Bright Pink does not provide medical advice. Please check out our Disclaimer for more information

Breast and Ovarian Cancer Genetic Testing
A breast and ovarian cancer gene test is a blood test to determine your risk of developing breast and ovarian cancer. The blood test is used to check for mutations (changes) in specific genes that help control normal cell growth. Mutations in BRCA1 and BRCA2 (which stands for BReast CAncer gene 1 and 2) are the most well-recognized. It is important to note that the BRCA gene test does not test for cancer itself. This test is only performed for people who have a strong family history of breast cancer and sometimes for those who have already had the disease. Genetic counseling should take place before and after a BRCA test to help you understand the benefits and risks associated with the testing process. This is powerful information and it is essential that the person knows how to cope with the test results.

When contemplating undergoing genetic testing, women should consider the level of risk, the cost, and the risk-benefit ratio. Moreover, many women experience an emotional struggle once they realize that they are genetically predisposed to breast or ovarian cancer and should speak to a genetic counselor.

If the mutation status is unknown, it is recommended that a family member who has already been affected by cancer be tested first because she is most likely to test positive. For the general population, a full sequence testing is recommended. If a mutation is found, further and more intensive strategies are implemented. If a family member is not available, research and testing is based off the individual who is seeking mutation status.

If the mutation status is known, genetic testing is much easier. The genetic testing facility can limit the investigation for mutations and focus on additional family members and their mutation status. If the same mutation is found in other family members, rigorous testing and strategy is recommended. First-degree relatives of those with gene mutations have a 50 percent risk of carrying the same mutation. As a result, they should consider further, intense management. Within families that have a constant pattern of hereditary ovarian and breast cancer on both the maternal and paternal sides, full sequencing should be implemented to check for other gene mutations.

The test results usually take several weeks. There is only one lab, called Myriad, in the United States that can provide this information.

Finding A Genetic Counselor
The National Society of Genetic Counselors is a great resource to find genetic counselors live in areas by you. These counselors are an incredible resource for young women to gain valuable information about genetic testing and their personal risk factors. A genetic counselor can meet with you one on one and help you assess your risk, and refer you to other physicians, psychologists and any other medical professionals who can help you with your unique situation. In order to find a genetic councilor near you, click on the following link, type in your zip code and select "cancer" under Area of Specialization.

http://www.nsgc.org/zip_search/index.cfm

Informed Medical Decisions (Informed) makes cancer genetic counseling available to people by telephone. Informed was created to increase access to experts in cancer genetics for people at risk for hereditary cancer. Genetic counselors help people and their doctors make the most informed genetic testing, cancer screening, and cancer prevention decisions.

Informed's genetic counselors have extensive experience in cancer genetics. A telephone call with an Informed genetic counselor will provide people with the most up-to-date and accurate information regarding:
  • The chance that cancer in their family is hereditary.
  • Genetic tests that can diagnose hereditary cancer.
  • The benefits and limitations of genetic tests.
  • Insurance coverage for genetic tests.
  • Individual cancer risks based on family history, with or without any genetic testing.
  • Cancer screening tests and prevention options for people based on their cancer risks.
  • Research opportunities.
  • Resources for support

To learn more visit: www.informedmedicaldecisions.com

The BRCA1 and BRCA2 Genes
Each year, there are hundreds of thousands of American women detected of breast and ovarian cancer. It is estimated that 5 to 10 percent of these women have a hereditary form of this disease. Inherited mutations in the the BRCA1 and BRCA2 are involved in many cases of hereditary breast and ovarian cancer. Researchers are continuing to search for other genes that may be associated with an increase in a woman’s cancer risk.

The BRCA gene is prevalent in 1 in every 800 in the general population. Moreover, these genetic mutations are responsible for up to 25 percent of early-onset breast cancers as well as up to 90 percent of early-onset cancers in families with a history of breast and ovarian cancer. It is important to remember that maternal and paternal genes affect one’s chance of breast and ovarian cancer. Carriers of the genetic mutations have an increased risk of cancer and should undergo thorough preventative and screening approaches.

The likelihood that breast and/or ovarian cancer is associated with BRCA1 or BRCA2 is highest in families that have experienced a history of multiple cases of breast cancer, cases of both breast and ovarian cancer, one or more family members with two primary cancers (original tumors at two different sites), or those with an Ashkenazi (Eastern European) Jewish background. Not every woman in the aforementioned families necessarily carries a BRCA1 or BRCA2 gene mutation and not every cancer can be linked to mutations in these genes.

Risk of Developing Cancer for BRCA1 and BRCA2 Positive Individuals
A woman’s risk of developing breast cancer in her lifetime (assuming she lives to the age of 85) are approximately 13 percent (13 out of 100 women) if she does not have a BRCA1 or BRCA2 mutation compared to 60 to 80 percents with a BRCA1 mutation and 30 to 85 percent with a BRCA2 mutation.

Regarding ovarian cancer, a woman’s lifetime risk in the general population is estimated at 1.7 percent (1.7 out of 100 women) which compares with 16-60 percent (1.6 – 60 out of 100 women) with a BRCA1 or BRCA2 gene mutation. No data are available from long term studies comparing of the general population with those women with a BRCA1 or BRCA2 gene mutation, but research is continuing.

These percentages demonstrate that a woman’s lifetime chance of developing breast and/or ovarian cancer greatly increase with a BRCA1 or BRCA2 gene mutation. Women with an inherited mutation in one of these genes have a greater risk of developing these cancers at a young age (before menopause) and often are known to have multiple close family members with the disease. These women may also be at a greater risk of developing colon cancer.

Men and BRCA Gene Mutations
Men can also have a BRCA1 or BRCA2 gene mutation which increases their risk of developing breast cancer (primarily if there is a BRCA2 gene mutation) and possibly prostrate cancer. BRCA2 gene mutations have also been associated with an increased risk of lymphoma, melanoma and cancers of the pancreas, gallbladder, bile duct and stomach.

Sources: National Cancer Institute, 2007; Susan G. Komen for the Cure, 2007; American Cancer Society, 2007; National Comprehensive Cancer Network, 2007.