Guidelines For Genetic Testing For Breast Cancer
About 10% of breast cancers are related to inheritance of damaged genes. BRCA1 and BRCA2 are the genes most frequently implicated, but there are many other genes, such as PALB2, ATM, and CHEK2, that need to be considered as well.; 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.; If no one in the family is known to carry a mutation then the test is considered non-informative.; That means the test was unable to tell us which relatives in the family are high risk. ;People who have inherited a damaged gene are at increased risk for breast and other cancers.; The risk may be as high as 80% depending on the specific gene and family history.;Guidelines for determining whether an individual should get genetic testing or not are constantly evolving. General criteria include:
- Someone in your family is known to carry a mutated gene
- Ashkenazi Jewish ancestry
- You were diagnosed with breast cancer before age 50
- A man in your family has been diagnosed with breast cancer
- You were diagnosed with ovarian cancer
- There are multiple breast cancers on one side of your family
- Cancer was diagnosed in both breasts
Getting The Results Of Genetic Testing
Before getting genetic testing, its important to know ahead of time what the results might or might not tell you about your risk. Genetic testing is not perfect. The tests might not provide clear answers for some people. This is why meeting with a genetic counselor or cancer genetics professional is important, even before being tested.
The results of genetic testing might come back as:
- Positive for a mutation that was tested for. If this is the case, there might be steps you can take to help lower your risk of breast cancer . If youve already been diagnosed with breast cancer, a positive result might affect your breast cancer treatment options.
- Negative for the mutation tested for. It can be reassuring to find out that the test didnt find a mutation that increases your risk. But its important to understand that genetic test results cant always guarantee youre not at increased risk. For instance, there might be a chance that you have a different mutation that you were not tested for.
- Inconclusive. In some cases, the test might not be able to tell for sure if you have a gene mutation.
- Positive for a variant of unknown significance . This means that the test found a gene change , but its not clear if this particular change affects your risk.
To learn more about these different types of test results, see What Happens During Genetic Testing for Cancer Risk?
Hboc Case Study Cme Trainingrisk Assessment Tools For Women At High Genetic Risk For Breast And Ovarian Cancer
Identifying individuals at increased risk for developing a hereditary cancer is the critical first step in the process of reducing the incidence of some cancers. Health care providers can use the following risk assessment tools, decision aids, and resources to identify and manage their patients who may be at high risk for hereditary breast and ovarian cancer. Providers can also use the tools to increase their understanding of the risk factors that put women at high genetic risk for breast and ovarian cancer.
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Talking With Your Health Care Provider About Your Risk Of Breast Cancer
If you have questions about your breast cancer risk, talk with your doctor, nurse or other health care provider.
Your family health history plays a role in your breast cancer risk. Before you meet with your health care provider, its helpful to collect information about your family health history.
Information on any cancers diagnosed in your family will be helpful in assessing your breast cancer risk.
If you are considering genetic testing to learn if a family history of cancer is due to an inherited gene mutation related to cancer risk, talk with your health care provider or a genetic counselor. They can help you decide if genetic testing is right for you and your family.
Susan G. Komen®s My Family Health History Tool
|My Family Health History tool is a web-based tool that makes it easy for you to record and organize your family health history. It helps you gather information that will be useful as you talk with your doctor or genetic counselor.|
Is There A Relationship Between Pregnancy And Breast Cancer Risk
Studies have shown that a womans risk of developing breast cancer is related to her exposure to hormones that are produced by her ovaries . Reproductive factors that increase the duration and/or levels of exposure to ovarian hormones, which stimulate cell growth, have been associated with an increase in breast cancer risk. These factors include early onset of menstruation, late onset of menopause, and factors that may allow breasttissue to be exposed to high levels of hormones for longer periods of time, such as later age at first pregnancy and never having given birth.
Conversely, pregnancy and breastfeeding, which both reduce a womans lifetime number of menstrual cycles, and thus her cumulative exposure to endogenous hormones , are associated with a decrease in breast cancer risk. In addition, pregnancy and breastfeeding have direct effects on breast cells, causing them to differentiate, or mature, so they can produce milk. Some researchers hypothesize that these differentiated cells are more resistant to becoming transformed into cancer cells than cells that have not undergone differentiation .
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Clinical Considerations And Recommendations
How should individual breast cancer risk be assessed?
Health care providers periodically should assess breast cancer risk by reviewing the patients history. Breast cancer risk assessment is based on a combination of the various factors that can affect risk Box 1610111213. Initial assessment should elicit information about reproductive risk factors, results of prior biopsies, ionizing radiation exposure, and family history of cancer. Health care providers should identify cases of breast, ovarian, colon, prostate, pancreatic, and other types of germline mutation-associated cancer in first-degree, second-degree, and possibly third-degree relatives as well as the age of diagnosis. Women with a potentially increased risk of breast cancer based on initial history should have further risk assessment. Assessments can be conducted with one of the validated assessment tools available online, such as the Gail, BRCAPRO, Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm, International Breast Cancer Intervention Studies , or the Claus model 34.
Is screening breast self-examination recommended in women at average risk of breast cancer, and what should women do if they notice a change in one of their breasts?
Should practitioners perform routine screening clinical breast examinations in average-risk women?
When should screening mammography begin in average-risk women?
How frequently should screening mammography be performed in average-risk women?
Understanding Breast Cancer Risk
Researchers are working to understand how different factors work separately and together to affect your health and your risk of developing breast cancer. By making healthier choices such as quitting smoking or eating nutritious foods you can help keep your risk as low as it can be. Learn about what risk means and how that risk can change.
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Who Is At High Risk For Early
According to the American Cancer Society , women who are at high risk for early-onset breast cancer include those who
- Have a known BRCA1 or BRCA2 gene mutation.
- Have a first-degree relative* , second-degree relative , or third-degree relative, which includes first cousins, with a BRCA1 or BRCA2 gene mutation.
- Have a lifetime risk of breast cancer of about 20% to 25% or greater, according to risk assessment tools that are based mainly on family history.
- Had radiation therapy to the chest between the ages of 10 and 30 years.
- Have Li-Fraumeni syndrome, Cowden syndrome, or Bannayan-Riley-Ruvalcaba syndrome, or have first-degree relatives with one of these syndromes.
*Risk is higher with more than one affected first-degree relative and if the affected relative was diagnosed at a young age.
Limits Of The Breast Cancer Risk Assessment Tool
The Breast Cancer Risk Assessment Tool does not use all the known risk factors for breast cancer to assess risk.
The tool also does not give a good risk estimate for some women, including those with a :
The original model was based on data from white women. The tool can now estimate risk for:
- Black women, using data from the Contraceptive and Reproductive Experiences Study
- Asian and Pacific Islander women in the U.S., using data from the Asian American Breast Cancer Study
- Hispanic women, using data from the San Francisco Bay Area Breast Cancer Study, the California Cancer Registry and the California Surveillance, Epidemiology, and End Results Program;
The model does not work as well for other racial and ethnic groups.
Visit the National Cancer Institute website to learn more about the Breast Cancer Risk Assessment Tool.
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Having Radiation To Your Chest
Women who were treated with radiation therapy to the chest for another cancer when they were younger have a significantly higher risk for breast cancer. This risk depends on their age when they got radiation. The risk is highest for women who had radiation as a teen or young adult, when the breasts are still developing. Radiation treatment in older women does not seem to increase breast cancer risk.
Identifying Young Women With Increased Risk Of Hereditary Breast And Ovarian Cancer
Health care providers can play a critical role in helping to reduce the incidence of hereditary breast and ovarian cancer by identifying patients with elevated risk. The following guidelines can help identify young women who may have a higher risk for hereditary breast and ovarian cancer and detect early-onset breast cancer among these women.
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How Do I Know My Risk For Breast Cancer Recurrence
After completing treatment for breast cancer, many patients may focus on their risk of recurrence. While this risk is individualized, there are certain factors your doctor may consider to determine whether you are at a higher or lower risk for the cancer returning.
Each persons breast cancer diagnosis is different, and includes unique factors that affect risk, says Erica Mayer, MD, MPH, a breast oncologist in the Susan F. Smith Center for Womens Cancers at Dana-Farber. Therapies recommended for each patient can be quite different and individualized.
Risk Factors You Can Change
- Not being physically active. Women who are not physically active have a higher risk of getting breast cancer.
- Being overweight or obese after menopause. Older women who are overweight or obese have a higher risk of getting breast cancer than those at a normal weight.
- Taking hormones. Some forms of hormone replacement therapy taken during menopause can raise risk for breast cancer when taken for more than five years. Certain oral contraceptives also have been found to raise breast cancer risk.
- Reproductive history. Having the first pregnancy after age 30, not breastfeeding, and never having a full-term pregnancy can raise breast cancer risk.
- Drinking alcohol. Studies show that a womans risk for breast cancer increases with the more alcohol she drinks.
Research suggests that other factors such as smoking, being exposed to chemicals that can cause cancer, and changes in other hormones due to night shift working also may increase breast cancer risk.
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What Is The Average American Womans Risk Of Developing Breast Cancer During Her Lifetime
Based on current incidence rates, 12.9% of women born in the United States today will develop breast cancer at some time during their lives . This estimate, from the most recent SEER Cancer Statistics Review , is based on breast cancer statistics for the years 2015 through 2017.;
This estimate means that, if the current incidence rate stays the same, a woman born today has about a 1 in 8 chance of being diagnosed with breast cancer at some time during her life. On the other hand, the chance that she will never have breast cancer is 87.1%, or about 7 in 8.;
For men born in the United States today, the lifetime risk of breast cancer is 0.13%, based on breast cancer statistics for the years 2015 through 2017. This means that a man born today has about a 1 in 800 chance of being diagnosed with breast cancer at some time during his life.
How Has The Risk Of Being Diagnosed With Breast Cancer Changed In Recent Years
For a woman born in the 1970s in the United States, the lifetime risk of being diagnosed with breast cancer, based on breast cancer statistics from that time, was just under 10% .;
The last five annual SEER Cancer Statistics Review reports show the following estimates of lifetime risk of breast cancer, all very close to a lifetime risk of 1 in 8:
- 12.83%, based on statistics for 2014 through 2016 ;
- 12.44%, based on statistics for 2013 through 2015
- 12.41%, based on statistics for 2012 through 2014
- 12.43%, based on statistics for 2011 through 2013
- 12.32%, based on statistics for 2010 through 2012
SEER statisticians expect some variability from year to year. Slight changes may be explained by a variety of factors, including minor changes in risk factor levels in the population, slight changes in breast cancer screening rates, or just random variability inherent in the data.
Howlader N, Noone AM, Krapcho M, et al. . SEER Cancer Statistics Review, 19752017, National Cancer Institute. Bethesda, MD, , based on November 2019 SEER data submission, posted to the SEER web site, April 2020.
- Reviewed:December 16, 2020
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Other Breast Cancer Risk Assessment Tools
Some tools, such as the Claus model, use family history to estimate breast cancer risk. Such tools can be used for women who have one or more relatives with breast cancer, or one or more relatives with ovarian cancer.
Other tools, such as IBIS and BOADICEA, use family history and other factors to estimate breast cancer risk.
Individual Risk Versus Group Risk
The Breast Cancer Risk Assessment Tool cant predict whether or not youll get breast cancer. It doesnt calculate an individual womans breast cancer risk.
Instead,;the tool;gives the average risk of breast cancer for a group of women with similar risk factors. Its not clear what this risk means for any one woman.
Say the tool gives you a 5-year risk of one percent. This means the tool estimates one percent of women who have risk factors similar to yours will develop breast cancer over the next 5 years. However, the tool cant predict which of these women will get breast cancer.
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How To Calculate Breast Cancer Risk Factors
We all know that breast cancer kills our mothers, sisters and daughters. But unfortunately the exact causes of breast cancer have not been determined till now. Health experts have found very few or rare reasons that may cause this killer disease, but theses are not exact reasons.
So far we have informed that pressing, massaging or touching breasts never may be the reasons or carriers of breast cancer and this is not a contagious disease. There is no chance if you get contact with any victim of this disease.
But researchers have found some reasons or factors that may create situations for developing breast cancer. These factors are identified as the risk factors for breast cancer. And the chance of breast cancer attack is increased by these risk factors.
We are now going to discuss the risk factors in brief in this article and this may help us in preventing breast cancer.
The older you grow, the more the chance of breast cancer increases. Maximum patients were detected among the women of age group 50 to 60 years.
Health History Since Puberty
Reproductive ormenstrual health may play a vital role for breast cancer risk. After giving first child at older age or having no children at all, having first menstruation before the age of 11 years, late menopause-like after the age of 50 years and taking hormone therapy for a long time etc. may be risk factors of getting breast cancer.
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Other Breast Cancer Facts
The average patient’s age with a new breast cancer diagnosis is 62. Living longer increases one’s risk. Risk rises after age 40, which is why annual mammograms are recommended by the American Cancer Society for women over the age of 40.
American Caucasian women develop breast cancer more often than African American, Native American, or Asian women.
Women who have had breast cancer on one side face an increased risk of getting cancer in the other breast. This is particularly true when breast cancer genetic risk is inherited.
One’s risk increases if there is a strong family history of breast cancer. This is true if there are relatives on either the maternal or paternal sides who have been affected. Risk is higher if there are multiple relatives who have had breast cancer, if the relatives are “first-degree” relatives – mother, sister, daughter, and if the relatives were diagnosed at a pre-menopausal age.
Studies suggest that the longer a woman is exposed to estrogen, the more likely she is to develop breast cancer. This includes estrogen made by the body, taken as a drug, or delivered by a patch. Also at increased risk are women who began their periods before age 12, never had children, took hormone replacement therapy for long periods of time, or experienced menopause after age 55.
Women who have their first child after age 30 have a greater risk.