How Testing Can Help If Youve Already Been Diagnosed
If youve been recently diagnosed with breast cancer, your doctor may recommend genetic testing depending upon your age at diagnosis, your family history, what type of breast cancer you have and other factors.
However, some organizations, including the American Society of Breast Surgeons, say testing should be made available to all women after a breast cancer diagnosis regardless of family history and cancer subtype and a growing number of physicians are offering patients the choice. The genetic testing would be in addition to biopsy results that reveal which type of cancer you have or a tumor-profiling test that looks for specific mutations in tumor cells.
Genetic testing can help you and your health care provider make decisions about treatment. If you need chemotherapy, for example, your test results can help determine which specific drugs the tumor is most likely to respond to. And women with some gene mutations can benefit from a new type of medication called PARP inhibitors. Personalized medicine this is really what were moving towards, Larsen Haidle says.
A positive test result may also influence a womans decision about surgery.
Take Ellen Rostker, 59, of Ann Arbor, Michigan. She was diagnosed with stage 2 breast cancer in her left breast in late 2020. Both her oncologist and her surgeon recommended genetic testing before her surgery.
Im so glad I had the testing because it made my surgery decision so much easier, Rostker says.
Variant Of Uncertain Significance Result
Getting a result of a variant of uncertain significance can be confusing and frustrating.
With BRCA1/2 testing, most VUS results are later found to be benign variants . However, theres a small chance the VUS will turn out to be a gene mutation that increases breast cancer risk.
With expanded panel testing, youre more likely to get a VUS result because more genes are being tested.
Not knowing whether the VUS helps explain your personal or family history of cancer may add to the stress of an already trying process.
Prophylactic Mastectomy For Diabetic Mastopathy
Agochukwu and Wong stated that diabetic mastopathy is a benign condition of the breast that typically manifests in patients with diabetes mellitus. Lymphocytic mastopathy is the term used to describe this condition in patients without diabetes mellitus. Most patients undergo excisional biopsy, but the use of mastectomy, even in cases of diffuse, bilateral disease, is rarely reported. These investigators presented the case of a 32-year old woman with type 1 diabetes and bilateral diabetic mastopathy. Because of pain, and concern for limitations in future cancer detection, she underwent bilateral NSM with immediate direct-to-implant reconstruction. A systematic literature review was performed to examine the therapeutic options for this disease, particularly from a plastic surgery perspective. A total of 60 articles were reviewed that contained information regarding 313 patients. Of these patients, only 4 underwent mastectomy. The authors concluded that this case was the 1st report of bilateral NSM and immediate implant reconstruction for a patient with bilateral, symptomatic diabetic mastopathy.
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Does My Insurance Cover Brca Testing
If you have ovarian cancer, testing for a BRCA mutation may be covered in many cases. If you do not have cancer but are considered to be at a high risk for developing cancer, testing for a BRCA mutation should also be covered. Call your insurance provider or talk to your health care team to ask about any specific limitations.
Brca1 And Brca2 Gene Mutations
When it comes to breast cancer risk, the most important inherited gene changes are in the BRCA1 and BRCA2 genes. Women with one of these gene changes are said to have Hereditary Breast and Ovarian Cancer syndrome.
- Women with a BRCA gene change have a greatly increased risk of breast cancer, as well as an increased risk of ovarian cancer, pancreatic cancer, and possibly some other cancers.
- Men with a BRCA gene change are at increased risk of breast cancer , prostate cancer, pancreatic cancer, and possibly some other cancers.
If you have a family history of breast cancer, you have a higher risk of getting breast cancer yourself. Most women with a family history of breast cancer do not have an inherited gene change that greatly affects their risk. Still, an inherited gene change is more likely in women with a strong family history of breast cancer, especially if the family history also includes certain other cancers, such as ovarian, pancreatic, or prostate cancer. The risk of having an inherited syndrome is also affected by:
- Which family members are affected
- The number of family members affected
- The age when your relatives were diagnosed
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Early Detection Saves Lives
Each year, about 15,000 women in New York are diagnosed with breast cancer, and about 2,640 die from the disease. Screening for breast cancer can increase the detection of the disease at an early stage. Early detection means more cancers will be found at earlier, more treatable stages, and more lives will be saved.
This page describes existing breast cancer screening rights for consumers covered by non- grandfathered policies issued in New York , and new rights under recently passed New York State breast legislation.
Under New York State breast cancer legislation, for health insurance policies and contracts issued, renewed, modified or amended on or after January 1, 2017, coverage for breast cancer screening and diagnostic imaging, including diagnostic mammograms, breast ultrasounds, or magnetic resonance imaging , must be provided without cost-sharing by the individual.
Coverage that must be provided without cost- sharing includes breast cancer risk assessments, genetic testing, and medications to reduce the risk of breast cancer.
When A Family Member Has An Inherited Gene Mutation
Just because one person in the family has an inherited gene mutation doesnt mean everyone in the family has the mutation. Only identical twins have the exact same genes. Other family members share some, but not all, of their genes.
For example, if your mother has a BRCA1 gene mutation, theres a 50 percent chance youll have a BRCA1 mutation .
If your family members with breast cancer or ovarian cancer arent alive or arent willing to be tested , a genetic counselor can help you decide if it would be useful to have BRCA1/2 testing or expanded panel testing.
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Can I Do Genetic Testing At Home
Some at-home genetic tests can help you determine breast cancer risk. These tests typically involve providing a sample of saliva or cheek cells and sending the sample by mail to be tested.
Its recommended that you seek genetic testing from a healthcare professional rather than using an at-home test for the following reasons:
- an incomplete result: At-home tests may not cover all known variants of a gene, such as BRCA1 or BRCA2. Because of this, a negative result can be misleading.
- unnecessary alarm: At-home tests may detect common genetic variants that are only associated with a slight increase in breast cancer risk, meaning that a positive result may cause unnecessary alarm.
- genetic counseling: With genetic testing through a healthcare professional, youll often also have access to genetic counseling both before and after you receive your result. This can help you better understand your result in the context of your overall health.
- privacy: Your privacy may not be ensured when you use an at-home test. If you do choose to use one, carefully review a companys disclosure policy beforehand.
Getting genetic testing for breast cancer risk has several benefits. But there are some risks involved as well.
Online Tools To Help You Talk With Your Health Care Provider
There are a few online tools to help you talk with your health care provider about your risk of having a BRCA1/2 inherited gene mutation and your risk of breast cancer.
Keep in mind online tools cant tell you whether or not you have a BRCA1/2 gene mutation or if you will get breast cancer. However, they may help you talk with your health care provider or a genetic counselor about these risks.
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Genetic Testing And Privacy
Genetic testing isnt anonymous. Your name appears on the test order and the results, which then become part of your medical record. The testing company is not allowed to reveal your results to anyone except your doctor or genetic counselor. Although medical records are confidential, many people worry they may be discriminated against by employers or health insurers if they get a positive genetic test result one that suggests an increased cancer risk.
If you are a U.S. citizen, the 2018 Genetic Information Nondiscrimination Act protects you from being discriminated against by health insurers and potential employers because of your genetic information. But GINA does not apply to small companies with fewer than 15 employees or to the U.S. military. GINA also does not apply to life insurance, disability insurance, or long-term care insurance, so its recommended that people secure these types of insurance plans before getting a genetic test.
It makes sense for residents of other countries to find out what their legal rights are. For example, many European nations have passed nondiscrimination laws like GINA.
How Effective Are Risk
Bilateral prophylactic mastectomy has been shown to reduce the risk of breast cancer by at least 95 percent in women who have a deleterious mutation in the BRCA1 gene or the BRCA2 gene and by up to 90 percent in women who have a strong family history of breast cancer .
Bilateral prophylactic salpingo-oophorectomy has been shown to reduce the risk of ovarian cancer by approximately 90 percent and the risk of breast cancer by approximately 50 percent in women at very high risk of developing these diseases .
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What Other Cancers Are Linked To Harmful Variants In Brca1 And Brca2
Harmful variants in BRCA1 and BRCA2 increase the risk of several additional cancers. In women, these include fallopian tube cancer and primary peritoneal cancer , both of which start in the same cells as the most common type of ovarian cancer. Men with BRCA2 variants, and to a lesser extent BRCA1 variants, are also at increased risk of breast cancer and prostate cancer . Both men and women with harmful BRCA1 or BRCA2 variants are at increased risk of pancreatic cancer, although the risk increase is low .
In addition, certain variants in BRCA1 and BRCA2 can cause subtypes of Fanconi anemia, a rare syndrome that is associated with childhood solid tumors and development of acute myeloid leukemia . The mutations that cause these Fanconi anemia subtypes have a milder effect on protein function than the mutations that cause breast and ovarian cancer. Children who inherit one of these variants from each parent will develop Fanconi anemia.
Genetic Testing And Family Relationships
Genetic testing lets you determine your own personal risk of developing cancer. But your results can affect the rest of your family, too whether or not family members wish to be tested themselves.
While agreeing to get genetic testing can strengthen some families, it can cause friction in others, especially if some of them dont want to be tested. But research studies have found that the process is more likely to cause positive reactions than negative ones.
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What Can Women At Very High Risk Do If They Do Not Want To Undergo Risk
Some women who are at very high risk of breast cancer may undergo more frequent breast cancer screening . For example, they may have yearly mammograms and yearly magnetic resonance imaging screeningâwith these tests staggered so that the breasts are imaged every 6 monthsâas well as clinical breast examinations performed regularly by a health care professional . Enhanced screening may increase the chance of detecting breast cancer at an early stage, when it may have a better chance of being treated successfully.
Women who carry mutations in some genes that increase their risk of breast cancer may be more likely to develop radiation-associated breast cancer than the general population because those genes are involved in the repair of DNA breaks, which can be caused by exposure to radiation. Women who are at high risk of breast cancer should ask their health care provider about the risks of diagnostic tests that involve radiation . Ongoing clinical trials are examining various aspects of enhanced screening for women who are at high risk of breast cancer.
If I Havent Been Diagnosed With Breast Cancer And I Test Positive For A Cancer
Testing positive for a cancer-related mutation doesntconfirm a breast cancer diagnosis. It also doesnt mean that you are definitelygoing to be diagnosed with cancer in the future. A positive result means that you have a higher risk of developing breast cancer in your lifetime than the general population. It also means that your lifetime risk of developing other cancers might be elevated as well.
Your genetic counselor can talk you through risk-reducing steps that make sense for you, such as surgery to remove the breasts , more frequent screenings with mammography and possibly breast MRI, and medications such as tamoxifen.
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Is Genetic Testing For Cancer Covered By Insurance
Typically, health insurance plans will cover the cost of genetic testing if your doctor recommends it, though, as Magder’s case points out, insurance providers have different policies about which tests are covered, according to the Genetics Home Reference website, run by the U.S. National Library of Medicine.
Cigna, for example, outlines the criteria you must meet for the insurance company to cover the cost of BRCA1 and BRCA2 testing. Cigna looks at things such as whether you’ve been diagnosed with breast cancer or any of your close relatives have.
It’s one of more than 30 genetic testing policies Cigna has for various types of heritable disorders, such as certain cardiac conditions and colorectal cancers, says Julie Kessel, senior medical director for coverage policy.
Cigna has covered genetic testing for years, and requests have soared in the past two to three years, as technology has improved, Kessel says. Depending on the condition, a doctor’s recommendation might be required for Cigna to agree to cover the costs.
If a woman suspects she might carry the BRCA1 or BRCA2 mutation, “we believe very much that a woman at risk really should have the testing. It might change their lives in a very positive and significant way,” Kessel says.
Under provisions of the Patient Protection and Affordable Care Act, new health plans are required to pay for genetic counseling and testing for women who have a high risk of having the BRCA gene.
Considering Genetic Counseling And Testing For Breast Cancer Risk
If you’re concenred about your risk because of a personal or family history of breast cancer, talk with your doctor. As a first step, your doctor might use one of several risk assessment tools that are now available. These mathematical models use your family history and other factors to help give you and your doctor a better idea about your risk of having an inherited BRCA gene mutation. But these assessment tools aren’t perfect, and each one might give different results, so doctors are still trying to figure out how best to use them.
Regardless of whether one of these tools is used, your doctor might suggest you could benefit from speaking with a genetic counselor or other health professional who is trained in genetic counseling. They can review your family history in detail to see how likely it is that you have a family cancer syndrome such as HBOC. The counselor can also describe genetic testing to you and explain what the tests might be able to tell you, which can help you decide if genetic testing is right for you.
Genetic testing is covered by many health insurance plans, but it might not be covered by some of them.
If you do decide to get tested, the genetic counselor can also help explain what the results mean, both for you and possibly other family members. To learn more about genetic testing in general, see Genetics and Cancer.
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What Are My Options If I Have A ‘cancer Gene’
Women in high-risk categories and those who have the genes linked with breast cancer should consider starting regular breast cancer screening at age 25, or 10 years earlier than the age of the youngest relative with breast cancer at the time of their diagnosis.
Get to know how your breasts look and feel. If you notice any changes, see your doctor right away. And talk with your doctor about blood tests, pelvic exams, and transvaginal ultrasound to look for ovarian cancer.
Some women choose to have a preventive mastectomy to lower their chances of breast cancer. ItÃ¢â¬â¢s also possible to have your ovaries and fallopian tubes taken out. This doesnÃ¢â¬â¢t get rid of all risk, but it does significantly lower it.
Another approach includes using anti-estrogen drugs:
- Tamoxifen, useful in premenopausal and post-menopausal women
- Raloxifene , used to treat osteoporosis useful only in post-menopausal women
- Exemestane , an aromatase inhibitor useful only in post-menopausal women
Brca Testing For Malignant Phyllodes Tumor Of The Breast
Rhiem et al noted that familial breast carcinomas that are attributable to BRCA1 or BRCA2 mutations have characteristic morphologic and immuno-histochemical features. BRCA1-associated carcinomas are poorly differentiated infiltrating ductal carcinomas frequently exhibiting morphologic features of typical or atypical medullary carcinomas such as prominent lymphocytic infiltrate and pushing margins. These investigators reported on 1 patient carrying the deleterious BRCA1 germline mutation R1699W, who presented with a malignant phyllodes tumor of the breast. The re-investigation of archival material by a reference pathologist of the German Consortium for Hereditary Breast and Ovarian Cancer revealed BRCA-associated pronounced pushing margins. In a total of 618 unrelated index patients who were registered in the GCHBOC database, no other phyllodes tumor has been described, while 10 carriers of the R1699W mutant had been identified. The authors concluded that the histopathologic appearance of the phyllodes tumor indicated an association with the BRCA1 mutation R1699W although it is a rare event in BRCA-positive families.
An UpToDate review on Phyllodes tumors of the breast states that Phyllodes tumors have been associated with Li-Fraumeni syndrome, a rare autosomal dominant condition that is characterized by the development of multiple tumors. No other etiologic or predisposing factors have been linked to phyllodes tumor.
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