Considerations For Genetic Testing
If you meet any of the criteria that increases your risk of having BRCA1 or BRCA2 mutations, as listed above, you may be considering genetic testing.
Genetic testing for BRCA1 or BRCA1 is usually a simple blood or saliva test. After a conversation and a prescription from a doctor, youll have a sample of your blood or saliva drawn and sent to a lab. The lab looks for the mutations, and the doctor will call you with the results.
You can also pay a direct-to-consumer company to do the test without a referral from your doctor. But these tests only test for BRCA1 and BRCA2 gene mutations. They cant rule out any and all factors that could increase your risk of breast cancer.
If youre curious about other genetic mutations that you may have, youll need to speak with a doctor about getting tested for those mutations, too.
The National Comprehensive Cancer Network offers criteria for who should consider getting a genetic test for BRCA1 and BRCA2 mutations, in addition to other gene mutations including those discussed above. Just know that insurance may not always cover genetic testing.
Currently, these tests arent seen as necessary or recommended for the general public. Genetic testing is only recommended if you have a family history of breast cancer or ovarian cancer.
Children under age 18 are
What Is My Cancer Risk
All women are at risk of getting breast cancer or ovarian cancer. The risk of getting breast cancer at some point in her lifetime for the average woman is about 12%. Having a BRCA mutation increases that risk to about 45 to 85% by age 70. The BRCA mutation also increases your risk of developing cancer of the ovary, fallopian tube, peritoneum, pancreas, and skin .
How Much Does An Inherited Harmful Variant In Brca1 Or Brca2 Increase A Womans Risk Of Breast And Ovarian Cancer
A womans lifetime risk of developing breast and/or ovarian cancer is markedly increased if she inherits a harmful variant in BRCA1 or BRCA2, but the degree of increase varies depending on the mutation.
Breast cancer: About 13% of women in the general population will develop breast cancer sometime during their lives . By contrast, 55%72% of women who inherit a harmful BRCA1 variant and 45%69% of women who inherit a harmful BRCA2 variant will develop breast cancer by 7080 years of age . The risk for any one woman depends on a number of factors, some of which have not been fully characterized.
Like women with breast cancer in general, those with harmful BRCA1 or BRCA2 variants also have an increased risk of developing cancer in the opposite breast in the years following a breast cancer diagnosis . The risk of contralateral breast cancer increases with the time since a first breast cancer, reaching 20%30% at 10 years of follow-up and 40%50% at 20 years, depending on the gene involved.
Ovarian cancer: About 1.2% of women in the general population will develop ovarian cancer sometime during their lives . By contrast, 39%44% of women who inherit a harmful BRCA1 variant and 11%17% of women who inherit a harmful BRCA2 variant will develop ovarian cancer by 7080 years of age .
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Where Breast Cancer Starts
Breast cancers can start from different parts of the breast. The breast is an organ that sits on top of the upper ribs and chest muscles. There is a left and right breast and each one has mainly glands, ducts, and fatty tissue. In women, the breast makes and delivers milk to feed newborns and infants. The amount of fatty tissue in the breast determines the size of each breast.
The breast has different parts:
- Lobules are the glands that make breast milk. Cancers that start here are called lobular cancers.
- Ducts are small canals that come out from the lobules and carry the milk to the nipple. This is the most common place for breast cancer to start. Cancers that start here are called ductal cancers.
- The nipple is the opening in the skin of the breast where the ducts come together and turn into larger ducts so the milk can leave the breast. The nipple is surrounded by slightly darker thicker skin called the areola. A less common type of breast cancer called Paget disease of the breast can start in the nipple.
- The fat and connective tissue surround the ducts and lobules and help keep them in place. A less common type of breast cancer called phyllodes tumor can start in the stroma.
- Blood vessels and lymph vessels are also found in each breast. Angiosarcoma is a less common type of breast cancer that can start in the lining of these vessels. The lymph system is described below.
To learn more, see Types of Breast Cancer.
What Are The Screening Options For Hboc
Screening is the use of different tests to find specific types of cancer before signs and symptoms appear. It is important to talk with your health care team about the following screening options, as each person is different:
Screening for women with a BRCA1 or BRCA2 gene mutation
Monthly breast self-examinations, beginning at age 18
Clinical breast examinations performed twice a year by a health care team or nurse, beginning at age 25
Yearly magnetic resonance imaging scans of both breasts, between ages 25 and 29.
Yearly mammogram and breast MRI, between ages 30 and 75.
Pelvic examination, trans-vaginal ultrasound, and CA-125 blood test every 6 months, beginning at age 30 to 35. It should be noted, however, that screening is not yet able to find most early ovarian cancers.
Consideration of prophylactic salpingo-oophorectomy, between ages 35 and 40, and once a woman is done giving birth to children
Screening for men with a BRCA1 or BRCA2 gene mutation
Screening options may change over time as new methods are developed and more is learned about HBOC. Talk with your health care team about appropriate screening tests for you.
Learn more about what to expect when having common tests, procedures, and scans.
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Frequently Asked Questionsexpand All
Your obstetriciangynecologist or other health care professional should ask you questions about your personal and family history of breast cancer and ovarian cancer. The questions may include the following:
Have you had cancer of the ovary, fallopian tubes, or peritoneum?
Have you had breast cancer at age 45 years or younger?
Have you had breast cancer and do you have a close relative with breast cancer at age 50 years or younger, or a close relative with cancer of the ovary, fallopian tubes, or peritoneum?
Have you had breast cancer and do you have two or more close relatives with breast cancer at any age?
Have you had breast cancer and do you have two or more close relatives with cancer of the pancreas or prostate?
Have you had breast cancer and are you of Eastern or Central European Jewish ancestry?
Do you have a close relative with a BRCA1 or BRCA2 mutation?
If your answers to these or other questions suggest that you may have a BRCA mutation, genetic counseling and testing may be offered.
Before you have genetic testing, a genetic counselor or a physician who specializes in inherited types of cancer can help you understand how the testing is done, what the results may mean, and what you may do depending on the test results.
Genetic testing requires a sample of blood or saliva. There are several ways that testing can be done:
Pain, tenderness, or swelling
Preventive Surgery Prophylactic Mastectomy And Prophylactic Oophorectomy
Bilateral prophylactic mastectomy is the removal of both breasts to prevent breast cancer.
Bilateral prophylactic mastectomy may:
- Lower the risk of breast cancer by 90 percent or more in women who have a BRCA1/2 inherited gene mutation
- Add 3-5 years to the lifespan of a 30-year old woman who is a BRCA1/2 carrier
Some women choose this option because it eases their worries about getting breast cancer. It may also make them feel they have done all they can do to lower their risk of breast cancer.
If you are a BRCA1/2 carrier, talk with your health care provider about the pros and cons of each risk-lowering option and make the decision thats right for you.
Learn about breast reconstruction after mastectomy.
Prophylactic oophorectomy is the surgical removal of the ovaries to prevent ovarian cancer. It can lower the risk of ovarian cancer by 70 to over 90 percent .
The NCCN recommends women with a BRCA1/2 inherited gene mutation , have an oophorectomy between ages 35-40 to lower their risk of ovarian cancer .
BRCA2 carriers tend to be diagnosed with ovarian cancer at a later age than BRCA1 carriers . So, BRCA2 carriers who have had bilateral prophylactic mastectomy may delay oophorectomy until age 40-45 .
Prophylactic oophorectomy may also lower the risk of breast cancer in BRCA1/2 carriers .
For premenopausal women, prophylactic oophorectomy leads to early menopause.
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How To Get Brca Genetic Testing
Genetic counseling is recommended for those who are interested in being tested for breast cancer gene mutations. You can talk to a doctor about getting a referral to a genetic counselor, who can help determine whether genetic testing would make sense based on family history and risk factors. Since many genetic tests only look for one specific gene mutation, the counselor can often help determine which mutations to test for.
The genetic test itself simply involves taking a small sample of blood or saliva, which is sent to a lab for analysis. Results can take several weeks or months.
Genetic testing results are not always clear-cut:
- A test result can be positive, meaning that the patient does carry the gene mutation.
- A negative test result indicates that they do not have that particular known gene mutation. It does not, however, rule out the possibility of having mutations in other genes. It also does not rule out the possibility of developing breast cancer. Most breast cancer cases are not hereditary, so everyone should still have an early detection plan.
- Genetic test results can also be uncertain or ambiguous. An ambiguous test result means that a mutation has been found on the gene, but it is not yet known whether that particular mutation has any effect on the chances of developing breast cancer.
- Someone is either negative or positive. Over time, a person cannot go from being negative to being positive or vice versa for the specific gene mutations they were tested for.
What Are The Benefits Of Genetic Testing
For some women, genetic testing may help you make informed medical and lifestyle decisions while easing the anxiety of not knowing their genetic background. You can also make a decision regarding prevention, with both medications and prophylactic surgery. In addition, many women take part in medical research that, in the long run, may lower their risk of death from breast cancer.
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How Breast Cancer Spreads
Breast cancer can spread when the cancer cells get into the blood or lymph system and then are carried to other parts of the body.
The lymph system is a part of your body’s immune system. It is a network of lymph nodes , ducts or vessels, and organs that work together to collect and carry clear lymph fluid through the body tissues to the blood. The clear lymph fluid inside the lymph vessels contains tissue by-products and waste material, as well as immune system cells.
The lymph vessels carry lymph fluid away from the breast. In the case of breast cancer, cancer cells can enter those lymph vessels and start to grow in lymph nodes. Most of the lymph vessels of the breast drain into:
- Lymph nodes under the arm
- Lymph nodes inside the chest near the breastbone
- Lymph nodes around the collar bone
If cancer cells have spread to your lymph nodes, there is a higher chance that the cells could have traveled through the lymph system and spread to other parts of your body. Still, not all women with cancer cells in their lymph nodes develop metastases, and some women with no cancer cells in their lymph nodes might develop metastases later.
Who Should Be Tested For Hboc
Most breast and ovarian cancers occur by chance with no known cause, so testing for BRCA1 or BRCA2 gene mutations may not be beneficial for the average person. Genetic testing is recommended primarily for people who have a personal and/or family history that suggests HBOC. However, women younger than 60 with triple-negative breast cancer , are at risk of having a BRCA mutation, regardless of family history.
For women with a previous diagnosis of breast cancer or ovarian cancer and/or a family history of breast or ovarian cancer, the National Comprehensive Cancer Network provides recommendations for when genetic counseling and testing may be needed. These recommendations are based on your familys history of cancer and how closely related you are to the person who developed cancer. Here are some important definitions to know:
“First-degree relatives” include parents, siblings, and children.
“Second-degree relatives” include aunts/uncles, grandparents, grandchildren, and nieces/nephews.
“Third-degree relatives” include first cousins, great-grandparents, or great-grandchildren.
Genetic testing should be considered if a person or family meets 1 or more of the criteria listed below:
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What Are The Potential Problems With Genetic Testing
Genetic testing is not 100% accurate. If a test is negative, a person still has a chance of getting breast cancer. If the test is positive, there is still a 15% to 20% chance of not getting breast cancer.
Genetic testing is costly, ranging from about $400 to more than $3,000, depending on the type of test. Insurance coverage varies.
The results of genetic tests won’t be available for several weeks. The length of time it takes to get results depends on the tests performed and under what circumstances they are done.
Genetic testing is very controversial. Legislation has been enacted to protect people who may have a documented genetic risk of cancer from employment or insurance problems. The best thing you can do is to become involved with an established genetic registry that can counsel people who have a genetic risk for cancer.
What Is Her2 And What Does It Mean
HER2 is a protein that helps breast cancer cells grow quickly. Breast cancer cells with higher than normal levels of HER2 are called HER2-positive. These cancers tend to grow and spread faster than breast cancers that are HER2-negative, but are much more likely to respond to treatment with drugs that target the HER2 protein.
All invasive breast cancers should be tested for HER2 either on the biopsy sample or when the tumor is removed with surgery.
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Predictive Genetic Tests For Cancer Risk Genes
Cancer is not usually inherited, but some types mainly breast, ovarian, colorectal and prostate cancer can be strongly influenced by genes and can run in families.
We all carry certain genes that are normally protective against cancer. These genes correct any DNA damage that naturally happens when cells divide.
Inheriting faulty versions or “variants” of these genes significantly raises your risk of developing cancer, because the altered genes cannot repair the damaged cells, which can build up and form a tumour.
BRCA1 and BRCA2 are examples of genes that raise your cancer risk if they become altered. Having a variant BRCA gene greatly increases a woman’s chance of developing breast cancer and ovarian cancer. They also increase a man’s chance of developing male breast cancer and prostate cancer.
BRCA genes are not the only cancer risk genes. Researchers recently identified more than 100 new gene variants associated with an increased risk of breast, prostate and ovarian cancer. Individually, these new gene variants only slightly increase the risk of cancer, but a combination could mean a high risk overall.
If you or your partner have a high-risk cancer gene, such as an altered version of BRCA1, it can be passed on to any children you have.
Weighing The Risks And Benefits Of Genetic Testing For High
A health care provider or genetic counselor can help you decide whether genetic testing is right for you and your family.
Testing for a BRCA1/2 inherited gene mutation only requires a blood or saliva sample, but there are risks and benefits to consider before testing. There can be physical, emotional and financial impacts of knowing your genetic status.
Testing costs are usually covered by health insurance for people who fall into one of the categories above .
Learn more about genetic testing.
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The Breast Cancer Genes: Brca1 And Brca2 Gene Mutations
Breast cancer and ovarian cancer can be caused by a number of different factors. Most women who get cancer dont have a family history of the disease, but sometimes cancer will run in families. Known as hereditary or familial cancer, these types of cancer are caused by changes, or mutations, in genes that pass from parent to child sometimes referred to as the breast cancer genes. The most common mutations linked to breast or ovarian cancer are in the BRCA1 and BRCA2 genes. Mutations in these genes increase your risk of getting cancer, but if you have the gene mutation, that doesnt mean you will develop cancer.
Questions To Ask The Health Care Team
If you are concerned about your risk of cancer, talk with your health care team. It can be helpful to bring someone along to your appointments to take notes. Consider asking your health care team the following questions:
What is my risk of developing breast cancer and ovarian cancer?
What is my risk for other types of cancer?
What can I do to reduce my risk of cancer?
What are my options for cancer screening?
If you are concerned about your family history and think your family may have HBOC, consider asking the following questions:
Does my family history increase my risk of breast cancer, ovarian cancer, or other types of cancer?
Should I meet with a genetic counselor?
Should I consider genetic testing?
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