Genetic testing usually starts with a family member who has already developed a breast or ovarian cancer. If this individual is positive for a mutation then all of the other family members can be tested for the same mutation to determine who is high risk and who is not. People who have inherited a damaged gene are at increased risk for breast and other cancers. Guidelines for determining whether an individual should get genetic testing or not are constantly evolving. General criteria include:. All women should undergo genetic counseling prior to testing.
The test is a simple blood test that is covered by most insurance companies. If you have a family member who has tested positive, the lab can look specifically for that gene alteration. In these cases, results may take one week.
Positive Results: Making the Best Decisions When You're at High Risk for Breast or Ovarian Cancer [Joi L. Morris, Oka K., M.D. Gordon, Beth Y., M.D. Karlan] on. Positive Results: Making the Best Decisions When You're at High Risk for Breast or Ovarian Cancer (Paperback) - Common [By (author) Ora Karp Gordon By.
Breast cancer screening guidelines for average risk women have become confusing. One organization recommends that women start getting mammograms every other year at age 50 and another recommends yearly mammograms between age 45 and 55 with every other year mammograms thereafter. One reason for these differences is disagreement as to whether annual mammography in younger women can reduce the risk of dying of breast cancer.
At Johns Hopkins, we continue to recommend annual mammography beginning at age 40 for average risk women,. A dense mammogram means that small cancers could be hidden in some parts of the breast that have a lot fibrous tissue and not much fat. The newer mammogram, called 3-D breast tomosynthesis, is sufficiently sensitive in dense breast tissue.
sketines.tk Most women with dense breasts just need to make sure they are getting breast tomosynthesis instead of tradition digital mammography. However, national practice guidelines do not currently recommend extra tests in these women. Extra screening tests are recommended for women with higher than average risk for breast cancer. Other women with family history of breast cancer or a history of a breast biopsy showing high risk changes such as atypical hyperplasia may meet this criterion as well.
Breast specialists in the Johns Hopkins Breast Center have access to additional resources for calculating your breast cancer risk. At Johns Hopkins enhanced surveillance for high risk women consists of a breast exam every 6 months alternating mammograms with MRI scans. Breast cancer screening may start before age 40 in women with a family history of breast cancer.
For women with no known gene mutation screening can begin five years before the earliest age at diagnosis in the family. For example, if your mother was diagnosed when she was 35, you should begin screening when you are There is some concern that the radiation exposure from mammograms performed before age 30 could increase breast cancer risk, especially in BRCA1 and BRCA2 mutation carriers.
Screening early in life usually consists of breast exams and MRI scans if indicated. Prophylactic removal of the fallopian tubes and ovaries is recommended by about age Nipple-sparing mastectomy is an effective option for these women. Making the decision to have an elective preventive double mastectomy and removal of the ovaries is personal and should be based on many life factors. You must balance where you are in your childbearing years, what your future choices may be, and whether you would prefer to follow a rigorous screening schedule instead of making such a life-altering choice.
Therefore some may have a tendency to place the cancer risk reducing options as a higher priority. So they have that perspective that may affect their opinions. I would concur that the colon cancer in the family does not impact your risk of carrying a BRCA mutation. It does increase your risk for colon cancer, and you should discuss with your doctors how this may change your colon screening recommendations, but colon cancer is not typically associated with BRCA mutations. However each plan differs, and some plans exclude coverage of any genetic testing at all.
Finding out there is a BRCA mutation in your family is never an easy process. There may be some non- BRCA factors that you share with your relatives with cancer that could increase your cancer risk, but your risk is probably not significantly higher than the average woman.
Therefore women who test negative for a known family mutation generally follow screening guidelines for the average woman and do not consider getting preventive surgery. Most genetic professionals would consider women who test negative for a known family mutation to NOT be at increased risk for cancer. Based on your family history, I can certainly understand your concern and your interest in genetic testing.
The type and cost of testing depends on your ethnicity and who else in the family may have already undergone testing. It is important to note that genetic tests are not always straightforward to interpret, and a normal genetic test result does not necessarily lower your risk for cancer. A genetic counselor can help you and your family figure out who in the family is the best person to test i. Additionally, a genetic counselor will help you explore how genetic testing could impact you socially e.
Genetic counseling is available via telephone through Informed Medical Decisions www. Thank you for taking the time to submit a question.
A genetics expert who specializes in cancer can review your family medical history as well as any personal risk factors you may have and determine if any extra or earlier testing is indicated for you. Based on this information, they can help you outline a screening plan that is most appropriate and share it with you and your doctor. A genetic counselor can help you and your family figure out who in the family is the best person to test, fully explain the benefits and limitations of testing, facilitate the genetic testing process, and interpret your results.
In addition, they can give you cancer screening and prevention recommendations that incorporate both your family history and any genetic test results. A genetic counselor will help you explore how genetic testing can impact you socially e.
In regard to insurance coverage, most insurance companies will cover some or all of the cost of genetic testing when it is medically indicated. You can contact your insurance carrier for specific coverage information or ask your genetic counselor for information about cost and billing.
Thank you for taking the time to submit a question, I understand your concerns and am glad you are seeking support and information from BP. I hope you will find this information helpful. Based on your family history, I can understand your concern and your consideration of genetic testing. It is important to note though that genetic tests are not always straightforward to interpret, and a normal genetic test result does not necessarily lower your risk for cancer.
A genetic counselor can help you and your family figure out who in the family is the best person to test, fully explain the benefits and limitations of testing, facilitate the genetic testing process, interpret your results, and give you cancer screening and prevention recommendations that incorporate both your personal and family medical history and any genetic test results. I understand your concerns and apprehension about your upcoming MRI. To answer your question concerning cancer risk, the lifetime risk for breast cancer given to someone with a BRCA mutation is defined as the probability in which that person will develop breast cancer at some point in her lifetime.
Referencing the number that you provided, this means that if we followed women with a BRCA mutation for their entire lifetime, 80 of them would develop breast cancer at some point. I hope that helps clarify the meaning of those numbers. In terms of minimizing cancer risk, there are risk reducing options available to women with a BRCA2 mutation. A genetic counselor can offer you cancer screening and prevention recommendations that incorporate both your personal and family medical history as well as your genetic test results. Thank you for letting us share your question.
Thank you for letting me know where you are located. The link below is to a directory of genetic counselors in many countries, including Ireland. I know that your health system is different, however, meeting with a genetic counselor would be a helpful resource for you, and would provide a forum in which you can discuss risk reduction and preventive options.
Thank you for taking the time to submit a question to BP.
What kind of impact does stress have on breast cancer? One such tool is genetic testing. I do hope that women and men with the same heritage as the author will bring this up with their doctors. Patients with a pathogenic variant and those with a VUS may need additional help to understand the implications of genetic test results and support with decision-making about cancer management and cancer risk management. Thank you for visiting nature. There is concern that newer birth control pill formulations are associated with a very small increase in the risk of breast cancer.
I do not know the answer to your question and am not aware of any data that looks at ovarian cancer risk reduction by removing one ovary. You may consider discussing this, as well as the risks and benefits of removing the ovaries, with your gynecologist or a gynecological oncologist.
In addition, if you have not already done so, you may consider meeting with a genetic counselor to discuss other risks and recommendations for women at higher risk for ovarian cancer. Thank you for taking the time to submit a question to Bright Pink. I can certainly understand your concern and your interest in genetic testing. Genetic testing is most informative when a family member who has been diagnosed with cancer is tested.
The results of these tests determine if genetic testing is necessary for the rest of the family. That information does not generally alter medical plans prior to adulthood.
It is important to note that genetic tests are not always straightforward to interpret, and a normal genetic test result does not necessarily lower the risk for cancer in a family. A genetic counselor can help you and your family decide who in the family is the best person to test, as well as fully explain the benefits and limitations of testing, facilitate the genetic testing process, interpret your results, and give you cancer screening and prevention recommendations that incorporate both your family history and any genetic test results.
A genetic counselor will also be able to discuss the implications of genetic testing for your daughter and other family members. I hope this information is helpful. Please respond to this message and let us know if you are willing to have your message without any of your personal identifying information and our response posted to the Bright Pink website to benefit others who may have a similar question.
Let me know if you need anything else!
I understand your concerns and am glad you are seeking support and information from BP. As you know, the primary cancer risks associated with a BRCA2 mutation are those of the breast and ovaries. A significantly increased risk for uterine cancer has not been consistently shown to be associated with BRCA mutations. The national guidelines by the NCCN National Comprehensive Cancer Network for women with a BRCA mutation recommend prophylactic oophprectomy preventive removal of the ovaries and fallopian tubes ideally between ages 35 and 40 or when they are through having kids.
However, this does not take into account any personal or family medical history that may indicate the need for removal of the uterus.