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.
What Does It Mean If The Results Are Positive
Testing positive for a BRCA mutation significantly increases your risk of cancer. But it doesnt mean youll definitely get cancer. Knowing that you have a BRCA gene mutation enables you to take positive steps to prevent cancer. It also helps your family members to better understand their own risks.
Talk to your healthcare provider and genetic counselor about whether your relatives should be tested. Your counselor and healthcare provider can also explain preventive measures you might want to take. Possible steps include:
- More frequent cancer screenings .
- Additional screening techniques .
- Limited use of birth control pills, which may reduce your risk of ovarian cancer but can raise the risk of breast cancer in some people.
- Use of cancer-preventing medications, such as tamoxifen.
- Preventive surgery, such as a prophylactic mastectomy to remove healthy breast tissue before cancer can develop, and prophylactic removal of ovaries and fallopian tubes to reduce the risk of developing ovarian cancer.
What Should I Consider When Opting In To Dna Relatives
Many people benefit from finding new family members from those who fill in detailsof their family trees to adoptees finding their biological family.
If you opt in to DNA Relatives, you will be able to send and receive invitationsto connect with other customers who share DNA with you. You can choose whetherto respond to these invitations or not, and your DNA relatives have the samechoice. We cannot guarantee that they will respond to your sharing invitationsor messages. Regardless of whether you both agree to share, you will be able to seetheir birthplace, locations of their ancestors and surnames, if they have chosen toadd this information to their profile. If you both accept sharing invitations, you willbe able to see ancestry reports and overlapping chromosome segments.
In rare cases, participation in DNA Relatives may reveal that you are related tosomeone unexpected, or that you are not related to someone in the way that youexpected. Consider this before you opt in to this feature.
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Get Familiar With Your Family Tree
People with a family history of early-onset breast cancer and other cancers should speak to a genetic counselor and consider testing.
Getting tested seemed like a wise choice for 39-year-old Carrie Berenstein, whose mother developed cancer in her early 30s, and whose father died of cancer at 57.
My mother was scared,” she said, because it seemed like everyone in the family was getting cancer young, and thought it would be a good idea for my family to get BRCA testing done.
Women and men from populations with increased risks of BRCA mutations like those of Ashkenazi Jewish descent, should consider testing, Reichman said.
This knowledge pushed Michelle Blumberg a 47-year-old human resources professional to have her first mammogram at age 40. She tested positive for the BRCA mutation.
I was really positive beforehand, she said. It wound up being my first and last mammogram.
Brca Mutation Status As A Prognostic Factor
When compared to sporadic breast cancers, BRCA1 mutation-associated breast cancers have a more aggressive phenotype and are typically high grade, estrogen receptor negative, progesterone receptor negative and HER2 negative . In contrast, BRCA2 mutation-associated breast cancers are more similar to sporadic breast cancer, although they are more likely to be estrogen receptor positive .
A number of studies have evaluated whether BRCA mutation status independently impacts breast cancer prognosis. Many of these studies have been hampered by small sample size, survival bias, and incomplete data regarding tumor and treatment characteristics. In an attempt to overcome survival bias, two studies have performed testing for BRCA founder mutations on tumor blocks obtained from consecutively diagnosed breast cancer patients of Ashkenazi Jewish descent . In the first study, 10-year breast cancer-specific survival was significantly worse in BRCA1 mutation carriers than non-carriers , but not in those with BRCA2 mutations compared to non-carriers . However, in this study, BRCA1 mutation status was predictive of worse outcome only in those who did not receive chemotherapy . In the second study, no difference in 10-year survival rate was seen between BRCA1mutation carriers, BRCA2 mutation carriers, and non-carriers . The interpretation of the above studies is hampered by the lack of data on some other well-recognized prognostic factors such as tumor grade and hormone receptor status.
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Response To Public Comment
A draft version of this Recommendation Statement was posted for public comment on the USPSTF website from February 19 through March 18, 2019. In response to public comments, the USPSTF clarified language regarding risk assessment and included additional information on the risk assessment tools referenced in the recommendation. It also incorporated language clarifying that the recommendation includes women with a personal history of BRCA-related cancer who have completed treatment and are considered cured.
Comments requested that the population under consideration be expanded to include other BRCA-associated cancers such as pancreatic cancer, melanoma, and prostate cancer, as well as men with breast or prostate cancer. The USPSTF recognizes the association of BRCA1/2 mutations with cancers such as pancreatic, prostate, and melanoma. However, the scope of the recommendation is limited to the prevention of breast, ovarian, tubal, and peritoneal cancer because the net benefit demonstrated was in the prevention of these cancers. The USPSTF did not review evidence on the benefits or harms of risk assessment, genetic counseling, and genetic testing in men.
Funding/Support: The USPSTF is an independent, voluntary body. The US Congress mandates that the Agency for Healthcare Research and Quality support the operations of the USPSTF.
How Can Genetic Testing Help
Genetic testing can help determine the risk of cancer within a family and guide appropriate cancer screening. Depending on the specific genetic risk, different screening tests can be arranged, and risk-reducing strategies can be considered.
No, if you wish you can choose to be tested for some or all the nine genes in the panel. The number of genes tested will not affect the testing time or pricing.
There are three possible results:
If you have a pathogenic variant this will explain why you and/or your relatives have developed breast cancer and means that you have an increased risk of breast cancer and possibly other cancers. Your exact risk will depend on which gene pathogenic variant has been found. Extra screening and/or risk-reducing strategies will be discussed. It will also be possible to offer predictive testing to other people in your family to see if they also have the pathogenic variant.
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Stages And Types Of Breast Cancer
Not all breast cancers are the same3,16. Your breast cancer might be diagnosed while it is still small or has only spread to a few lymph nodes near the breast. This is known as early stage breast cancer. If your tumour is larger and/or your cancer cells have spread to several lymph nodes near the breast or to the skin of the chest wall, this is known as locally advanced breast cancer. If your cancer has spread to other parts of the body, this is known as advanced or metastatic breast cancer16.
There are also different types of breast cancer depending on where the cancer starts, whether the cancer cells have special features or the types of genes or receptors your cancer cells have17,18.
For example, your cancer cells might have some or none of these receptors:
What Can Brca Testing Tell Me
Having a BRCA1 or BRCA2 gene mutation greatly increases your risk of breast cancer. People with a BRCA mutation may be up to six times more likely to get breast cancer by age 80 than the general population. Cancer might also develop at an earlier age and is more likely to affect both breasts.
BRCA mutations can also increase the risk of:
- Ovarian cancer and two related cancers: fallopian tube cancer and peritoneal cancer.
- Fanconi anemia .
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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.
What Happens Before Brca Testing
Before having BRCA testing, youll meet with a genetic counselor. Your counselor will explain how your inherited genes could affect your cancer risk. Theyll help you understand:
- What a positive or negative BRCA test result means.
- How your results affect your risk.
- What your results mean for your family members risk.
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Find Out If You’re A Little Bit Neanderthal
Even though Neanderthals vanished about 40,000 years ago, their DNA lives on in us.Research tells us that they interbred with humans around 60,000 years ago.
23andMe can tell you how much of your DNA is derived from Neanderthals and how thatcompares to others. We can even point to specific Neanderthal DNA that is associatedwith traits that you might have like height and back hair.
Genetic Testing For Hereditary Breast And Ovarian Cancer
Genetic testing is available for hereditary breast and ovarian cancer. Most breast and ovarian cancer is not caused by inherited mutations, so genetic testing will not help most women with a family health history of breast and ovarian cancer. Genetic testing will not identify the cause for some hereditary breast and ovarian cancers, because the genes affected in these cancers are not yet known.
Genetic counseling before genetic testing for hereditary breast and ovarian cancer is important to determine whether you and your family are likely enough to have a mutation that it is worth getting tested. Usually, genetic testing is recommended if you have:
- A strong family health history of breast and ovarian cancer
- A moderate family health history of breast and ovarian cancer and are of Ashkenazi Jewish or Eastern European ancestry
- A personal history of breast cancer and meet certain criteria
- A personal history of ovarian, fallopian tube, or primary peritoneal cancer
- A known BRCA1, BRCA2, or other inherited mutation in your family
The BRCA1 and BRCA2 genes
Genetic counseling after genetic testing is important to help you understand your test results and decide the next steps for you and your family:
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Should I Be Tested For Genetic Mutations
At-risk families can take blood tests to look for mutations in these genes.
You may want to discuss genetic testing with your doctor if:
- You have two or more blood relatives — mother, sister, aunt, cousin, or daughter — with premenopausal breast cancer or ovarian cancer diagnosed at any age.
- You were diagnosed with breast cancer, especially before menopause, and have a blood relative with breast or ovarian cancer.
- You were diagnosed with ovarian cancer and you have blood relatives who have had ovarian or breast cancer.
- A male in your family has or had breast cancer.
- You or a family member has been diagnosed with bilateral breast cancer .
- You were diagnosed with triple-negative breast cancer before the age of 60.
- You are related to someone who has a BRCA1 or BRCA2 mutation.
- You are of Ashkenazi Jewish descent and have had breast or ovarian cancer or have blood relatives who have had breast or ovarian cancer.
Are Harmful Variants In Brca1 And Brca2 More Common In Certain Racial/ethnic Populations Than Others
Yes. The likelihood of carrying an inherited mutation in BRCA1 or BRCA2 varies across specific population groups. While the prevalence in the general population is about 0.2%0.3% , about 2.0% of people of Ashkenazi Jewish descent carry a harmful variant in one of these two genes and the variants are usually one of three specific variants, called founder mutations. Other populations, such as Norwegian, Dutch, and Icelandic peoples, also have founder mutations .
Different racial/ethnic and geographic populations also tend to carry different variants in these genes. For instance, African Americans have BRCA1 variants that are not seen in other racial/ethnic groups in the United States . Most people of Ashkenazi Jewish descent in the United States who carry a BRCA variant have one of three specific variants . In the Icelandic population, a different variant in BRCA1 is common among those who inherit a mutation in BRCA1.
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How Common Is Hboc
Most breast and ovarian cancers are sporadic, meaning they occur by chance with no known cause. Most women who have breast or ovarian cancer do not have HBOC.
Currently, it is estimated that less than 1% of the general population has a mutation in the BRCA1 or BRCA2 genes, and up to 10% of women and 20% of men diagnosed with breast cancer have a mutation in 1 of these genes. About 10% to 30% of women younger than 60 diagnosed with triple-negative breast cancer, which are cancers that do not have receptors for estrogen, progesterone, and HER2, have a BRCA1 or BRCA2 gene mutation, and others will have mutations in other breast cancer risk genes. Therefore, doctors recommend that women with triple-negative breast cancer receive genetic counseling and genetic testing .
HBOC is most common in families who have had multiple cases of breast cancer and/or ovarian cancer on the same side of the family. In families with 4 or more cases of breast cancer diagnosed before age 60, the chance of HBOC is about 80%. To compare, the chance of finding HBOC when only 1 woman has had breast cancer diagnosed before age 50 is estimated to be 10% or less.
Families with Ashkenazi Jewish ancestry have an increased chance of having HBOC. There are 3 specific gene mutations, known as founder mutations, that are common in these families:
185delAG in BRCA1
5382insC in BRCA1
6174delT in BRCA2
What To Do If You’re Worried
Speak to a GP if cancer runs in your family and you’re worried you may get it too. They may refer you to a local genetics service for an NHS genetic test, which will tell you if you have inherited one of the cancer risk genes.
This type of testing is known as predictive genetic testing. It’s “predictive” because a positive result means you have a greatly increased risk of developing cancer. It does not mean you have cancer or are definitely going to develop it.
You may be eligible for this NHS test if the faulty gene has already been identified in one of your relatives, or if there is a strong family history of cancer in your family.
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Why Do We Need Genetic Testing
Genetic testing can be done to look for mutations in some of these genes. While testing can be helpful in some cases, not every woman needs to be tested, and the pros and cons need to be considered carefully. When it comes to breast cancer risk, the most important inherited gene changes are in the BRCA1 and BRCA2 genes.
Genetic Testing To Learn About Breast Cancer Risk
Genetic testing gives people the chance to learn if their breast cancer or family history of breast cancer is due to an inherited gene mutation.
This section provides information on genetic testing to learn about breast cancer risk, including inherited gene mutations that increase breast cancer risk, direct-to-consumer genetic testing, testing for multiple high-risk gene mutations and other topics.
If youve been diagnosed with breast cancer, you may be recommended to get genetic testing to help guide your treatment. Learn about genetic testing to guide breast cancer treatment.
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Breast Cancer Genetic Tests
Genetic testing is an important part of assessing breast cancer risk. These tests often look for the BRCA1 or BRCA2 mutations, but other genes might be tested in certain circumstances.
Testing is typically recommended for those predisposed to a BRCA1 or BRCA2 mutation. Your healthcare provider may suggest testing if:
- Someone in your family has tested positive for one of the BRCA mutations.
- Your medical history or your family history of breast cancer is more consistent with BRCA-related cancer .
- You have breast cancer in your family and are of Ashkenazi Jewish descent.