Testing For Brca And Other Gene Mutations
Some expert groups have developed guidelines for which women should consider genetic counseling and possibly testing for BRCA and other gene mutations. These guidelines can be complex, and not all doctors agree with them, but in general they include two main groups of people:
Women who have already been diagnosed with breast cancer: Most doctors agree that not all women with breast cancer need genetic counseling and testing. But counseling and testing is more likely to be helpful if:
- You were diagnosed with breast cancer at a younger age
- You have triple-negative breast cancer
- You have been diagnosed with a second breast cancer
- You are of Ashkenazi Jewish descent
- You have a family history of breast cancer , ovarian cancer, pancreatic cancer, or prostate cancer
Other groups of people: Genetic counseling and testing might also be recommended for other people who are at higher risk for inherited gene mutations, including:
- People with a known family history of a BRCA gene mutation
- Women diagnosed with ovarian cancer or pancreatic cancer, or men diagnosed with breast cancer, pancreatic cancer, or high-grade or metastatic prostate cancer
- People with a family history of breast cancer at a younger age, more than one family member with breast cancer, or breast cancer in a male family member
- People with a close family member with a history of ovarian cancer, pancreatic cancer, or metastatic prostate cancer
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Ontario Breast Screening Program
The Ontario Breast Screening Program is a province-wide organized screening program that aims to reduce breast cancer mortality through regular screening. The program provides screening for most women ages 50 to 74, and for women ages 30 to 69 who are confirmed to be at high risk of developing breast cancer.
The High Risk OBSP sites help women who may be at high risk of getting breast cancer to undergo genetic assessment. To learn about the eligibility requirements for the High Risk OBSP, see Breast Cancer Screening for Women at High Risk. For women who have been confirmed to be at high risk of getting breast cancer, High Risk OBSP sites offer yearly screening mammograms and breast magnetic resonance imaging . For women with abnormal screening results, the High Risk OBSP sites coordinate follow-up breast assessments .
Why Breast Cancer Screening Matters
The sooner breast cancer gets diagnosed, the better your odds of getting successful treatment.
That’s why itâs important to get mammograms as recommended, to be familiar with how your breasts usually look, and to report any changes to your doctor ASAP. Why?
- Breast cancer risk is up: The lifetime risk of a woman getting breast cancer in the U.S. was around 5%, or 1 in 20, in 1940. Now itâs 12%, or more than 1 in 8.
- Finding breast cancer earlier boosts your survival odds: Women who have breast cancer screening mammograms are much less likely to die from the disease. This depends on:
- The quality of the test
- Getting screened as often as you need to
- Following your treatment plan if you get diagnosed
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Do You Need Tests For Later
Imaging tests. If your cancer is stage IIIB or IV, you should get an imaging test to look for cancer in other parts of your body. Treatment can depend on how much and where the cancer has spread.
Tumor marker tests. If you have later-stage breast cancer, your doctor may also use blood tests to look at tumor markers. These tests should be done only when it is known that you have advanced cancer.
This report is for you to use when talking with your healthcare provider. It is not a substitute for medical advice and treatment. Use of this report is at your own risk.
What Do The Results Of Hormone Testing Mean
Breast cancer patients who test positive for both estrogen receptors and progesterone receptors usually have a better-than-average prognosis for survival and a complete recovery than those who have no receptors present. Also, the more receptors and the more intense their reaction, the better they respond to hormone therapy. Patients with one type of receptor but not the other may still reap benefits from this form of treatment, but likely not to the same degree. As mentioned earlier, if the cancer is both ER- and PR-negative, it probably wont respond to hormone therapy. Typical response rates to hormone therapy are as follows:
- ER and PR positive: 75-80%
- ER positive and PR negative: 40-50%
- ER negative and PR positive: 25-30%
- ER negative and PR negative: 10% or less
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Supplemental Breast Cancer Screening
Many studies have shown that ultrasound and magnetic resonance imaging can help supplement mammography by detecting breast cancers that may not be visible with mammography. Neither MRI nor ultrasound is meant to replace mammography. Rather, they are used in conjunction with mammography in selected women. Women should consult with their referring doctor or radiologist to determine if MRI or ultrasound screening is appropriate for them.
- MRI of the breast may be used for women at high risk for breast cancer, typically because of a strong family history of the disease.
- Ultrasound of the breast may be used for women who are at high risk for breast cancer and unable to undergo an MRI examination or women who are pregnant and should not be exposed to x-rays used in mammography. Ultrasound of the breast can also be used to screen women who have dense breast tissue, meaning there are a lot of ducts, glands, fibrous tissue and less fat making it harder to find cancers with traditional mammography.
Breast Cancer Screening Patient Version
On This Page
Screening is looking for signs of disease, such as breast cancer, before a person has symptoms. The goal of screening tests is to findcancer at an early stage when it can be treated and may be cured. Sometimes a screening test finds cancer that is very small or very slow growing. These cancers are unlikely to cause death or illness during the person’s lifetime.
Scientists are trying to better understand whichpeople are more likely to get certain types of cancer. For example, they look at the person’s age, their family history, and certain exposures during their lifetime. Thisinformation helps doctors recommend who should be screened for cancer, whichscreening tests should be used, and how often the tests should be done.
It is important to remember that your doctor does not necessarilythink you have cancer if he or she suggests a screening test. Screeningtests are done when you have no cancer symptoms. Women who have a strong family history or a personal history of cancer or other risk factors may also be offered genetic testing.
See the following PDQ summary for more information about cancer screening:
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Find Your Local Breastscreen Provider
To book your free mammogram, contact your local BreastScreen provider on 13 20 50
BreastScreen NSW has temporarily suspended all routine breast screening across the state. While clinics are closed, monitor for symptoms and contact your GP if you notice any changes.
Keep up-to-date with developments and when clinics reopen remember to tick breast cancer screening off you to-do list.
Breast screening saves lives. Screening is one of the most effective ways to detect early signs of breast cancer, meaning treatment outcomes are much better. Early detection is the best way to improve survival.
During Covid-19 many things were forgotten. While there was a brief pause of the BreastScreen Australia program in April 2020, states and territories have resumed services at a reduced capacity with COVIDSafe measures in place. Your health and safety are important, so measures have been put in place to reduce the risk of transmission against the ongoing risk of COVID-19.
So its important for women aged 50-74 to put breast screening back at the top of their to-do-list.
If youve been sent an invitation, its time to tick breast screening off your list.
Your Insurance Should Cover Breast Cancer Screening
Thanks to the Affordable Care Act, all health insurance plans should cover yearly mammograms with no out-of-pocket costs for women 40 and older. If your doctor says youre at a higher risk of breast cancer because of family history, an inherited gene mutation or other risk factors, your screening should be covered even if youre under 40. CBEs and screening breast MRIs should also be covered if your doctor recommends them. Medicare and Medicaid also cover breast cancer screening. Check with your insurance provider to find out where you should go for screenings and make sure theyll cover whatever services you need.
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Importance Of Early Detection
Prompt detection of breast cancer is important to find breast cancer in its earliest and most treatable stage. This may be before the person has any noticeable symptoms, so regular screening may be the most important tool for this early detection.
One notes that breast cancer is the second most common cause of death from cancer among women worldwide. Screening can help reduce this risk.
Research from 2016 notes that standard procedures for breast cancer screening can lead to a roughly in deaths from breast cancer.
The also notes that increasing screening practices for eligible people could:
- increase life expectancy
Breastsentry Helping Women Know If They’re At Higher Risk For Breast Cancer
The BreastSentry cancer screening test can be used to help identify women who are at greater risk of developing breast cancer by measuring two different biomarkers. These biomarkers, proneurotensin and proenkephalin , are extremely strong indicators and very predictive of the risk a woman has of developing breast cancer during the course of her life. Using the BreastSentry screening blood test to determine if you have elevated scores that put you at higher risk of developing breast cancer will allow you to seek out further diagnostic testing, and could potentially help you and your doctor catch your cancer extremely early in your diagnosis, greatly increasing your chances of survival. Any woman who is 40 years or older is a candidate for receiving this screening test. Contact Ichor Blood Services today to book your appointment for a breast cancer screening mobile lab collection test in Calgary, Edmonton, or Toronto.
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How Does The Endopredict Test Work
The EndoPredict test analyzes the activity of 12 genes in breast cancer cells. These genes are linked to the likelihood that the cancer will come back in a part of the body away from the breast within 10 years after diagnosis.
The EndoPredict test also includes the size of the cancer and whether or not cancer is in the lymph nodes when calculating the risk score.
EndoPredict test results are given as an EPclin Risk Score, a number between 1.1 and 6.2 that maps to a percentage risk of recurrence. The scores are considered either low-risk or high-risk:
- an EPclin Risk Score higher than 3.3287 is interpreted as the cancer having a high risk of recurrence
- an EPclin Risk Score lower than 3.3287 is interpreted as the cancer having a low risk of recurrence
- each EPclin Risk Score is shown on a curve to clarify an individuals personal risk of recurrence
You and your doctor will consider the EPclin Risk Score in combination with other factors, such as the grade of the cancer, the number of hormone receptors the cancer cells have , and your age. Together, you can make a more informed decision about chemotherapy.
The EndoPredict test is performed on preserved tissue that was removed during the original biopsy or surgery.
Whats Involved In A Biopsy
A biopsy is the removal of a tiny amount of tissue or fluid from your tumor or the area where cancer is suspected so that the cells can be examined under a microscope. Many women who undergo biopsies do not have cancer. But a biopsy is the main way a woman can learn whether she has cancer or not.
There are several types of biopsy procedures. The type of biopsy will depend on the size and location of the suspicious area, what it looks like how many abnormal areas exist, other health conditions a woman has, and her personal preference. Usually only one biopsy is necessary to diagnose breast cancer. However, doctors may need to do additional biopsies if the first one does not provide enough tissue for testing or if doctors need more tissue to do additional tests. The types of biopsy include:
Fine needle aspiration During an FNA, the doctor uses a hollow needle to pull out a small amount of tissue from the area suspected to be cancer. The needle is very, very thin, smaller than those used to draw blood, and it extracts the tissue into a syringe.
Core needle biopsy A core needle biopsy uses a wider needle to withdraw tissue from the part of the breast that looks suspicious on a mammogram, ultrasound, or MRI or a part of the breast that physically feels unusual or suspicious to your doctor.
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What To Do If You Find A Lump
Dont panic if you think you feel a lump in your breast. Most women have some lumps or lumpy areas in their breasts all the time, and most breast lumps turn out to be benign . There are a number of possible causes of non-cancerous breast lumps, including normal hormonal changes, a benign breast condition, or an injury.
Dont hesitate to call your doctor if youve noticed a lump or other breast change that is new and worrisome. This is especially true for changes that last more than one full menstrual cycle or seem to get bigger or more prominent in some way. If you menstruate, you may want to wait until after your period to see if the lump or other breast change disappears on its own before calling your doctor. The best healthcare provider to call would be one who knows you and has done a breast exam on you before for example, your gynecologist, primary care doctor, or a nurse practitioner who works with your gynecologist or primary care doctor.
Make sure you get answers. Its important that your doctor gives you an explanation of the cause of the lump or other breast change and, if necessary, a plan for monitoring it or treating it. If youre not comfortable with the advice of the first doctor you see, dont hesitate to get a second opinion.
Some Risk Factors For Breast Cancer
The following are some of the known risk factors for breast cancer. However, most cases of breast cancer cannot be linked to a specific cause. Talk to your doctor about your specific risk.
Age. The chance of getting breast cancer increases with age. Nearly 80 percent of breast cancers are found in those over the age of 50.
Personal history of breast cancer. An individual who has had breast cancer in one breast is at an increased risk of developing cancer in the other breast.
Family history of breast cancer. A higher risk of breast cancer is associated with having an immediate relative with breast cancer, especially at a young age . Having other relatives with breast cancer may also raise the risk.
Genetic factors. Certain genetic mutations, including changes to the BRCA1 and BRCA2 genes, are associated with a higher risk of developing breast cancer at some point. Other gene changes may raise breast cancer risk as well. For more information, ask your doctor about comprehensive biomarker testing, which may include genetic testing for inherited cancer risk.
Childbearing and menstrual history. Research suggests a link between reproductive and menstrual history and the risk of breast cancer. Higher risk factors include:
- Early onset menstruation
- Late onset menopause
- Never having children, childbirth later in life or not breastfeeding
Hormone use. Menopausal hormone therapy and certain types of birth control may have hormones that are risk factors for breast cancer.
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American Cancer Society Screening Recommendations For Women At High Risk
Women who are at high risk for breast cancer based on certain factors should get a breast MRI and a mammogram every year, typically starting at age 30. This includes women who:
- 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
- Have a known BRCA1 or BRCA2 gene mutation
- Have a first-degree relative with a BRCA1 or BRCA2 gene mutation, and have not had genetic testing themselves
- Had radiation therapy to the chest when they were 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
The American Cancer Society recommends against MRI screening for women whose lifetime risk of breast cancer is less than 15%.
Theres not enough evidence to make a recommendation for or against yearly MRI screening for women who have a higher lifetime risk based on certain factors, such as:
- Having a personal history of breast cancer, ductal carcinoma in situ , lobular carcinoma in situ , atypical ductal hyperplasia , or atypical lobular hyperplasia
- Having extremely or heterogeneously dense breasts as seen on a mammogram
If MRI is used, it should be in addition to, not instead of, a screening mammogram. This is because although an MRI is more likely to detect cancer than a mammogram, it may still miss some cancers that a mammogram would detect.