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Genetic Screening For Breast Cancer

American Cancer Society Recommendations For The Early Detection Of Breast Cancer

Understanding the genetic risks of breast cancer

Finding breast cancer early and getting state-of-the-art cancer treatment are two of the most important strategies for preventing deaths from breast cancer. Breast cancer thats found early, when its small and has not spread, is easier to treat successfully. Getting regular screening tests is the most reliable way to find breast cancer early. The American Cancer Society has screening guidelines for women at average risk of breast cancer, and for those at high risk for breast cancer.

What Happens If The Genetic Test Comes Back Positive

If your test come back positive for a gene mutation, then a risk management plan can be put in place.

For example, someone with the BRCA1 gene would start their breast screening from age 30, Associate Professor Kirk said.

They usually start it in a risk management clinic where theres special expertise and the availability of breast MRI for screening rather than simply mammography ultrasound and of course, those women are also given the opportunity risk reducing surgery for the breast tissue, which is taken up by maybe about 30% of high risk women.

The BRCA gene mutations also increase your risk of developing ovarian cancer and so this will also be taken into consideration if a woman is tested positive for a BRCA gene mutation.

Many choose to have screening, but I think the more important thing is that these women, if they have a BRCA1 or BRCA2 mutation are also at very high risk of ovarian cancer.

There is no screening test for that and so once theyve finished their family, by about age 30, the best approach at the moment is to remove the ovaries and fallopian tubes and that is the single most important thing that saves lives in these families.

So its very important to identify these women because we can save lives from cancer if we look after them appropriately.

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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Talk With Your Health Care Provider Or A Genetic Counselor

The process of genetic testing is complex. Its best to meet with a genetic counselor or a trained health care provider to make decisions about testing. They can help you choose a test that meets your needs.

Your health care provider or a genetic counselor can help you correctly interpret the test results. If the testing was not done in a certified lab, your health care provider can arrange a clinical genetic test to confirm the results.

If clinical genetic testing finds a gene mutation related to breast cancer, your health care provider or a genetic counselor can help you make informed decisions about breast cancer screening and any risk-lowering options that may be right for you.

Learn about genetic test results.

Consent For Genetic Testing

Genetic Testing for Breast Cancer: What Does The BRCA1 Gene Do?

Before getting a genetic test, you must first sign an informed consent document. This document confirms that you agree to be tested and you fully understand the tests benefits and risks.

Many testing centers require you to participate in a genetic counseling session before and after testing. Even if genetic counseling sessions are not required, its a good idea to ask for them. A genetic counselor can discuss the tests benefits and risks with you and give you additional information to review.

The main benefit of testing is knowledge. If your genetic test is negative for an abnormal BRCA1, BRCA2, or PALB2 gene that you know is present in your family, then you know you are not at high risk because of a mutation in any of those genes. But you could still be at high risk because of an abnormality in an inherited gene that has not yet been linked to breast cancer or ovarian cancer. This is especially possible if a close family member has been diagnosed with breast or ovarian cancer that is not linked with mutations in these three known genes. If your genetic test is positive, you can take steps to prevent breast or ovarian cancer or try to catch these cancers early if they do develop.

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Stage : A Predictive Genetic Test

If an altered gene is found in one family member during the full screen, other blood relatives can be tested to see whether they also carry the identified altered gene.

The results

The results of a predictive genetic test usually take around four to eight weeks.

Whatever the results of your test, its important that you can talk through any questions or concerns about your results with your genetics team.

If you do not have an altered gene

If the predictive genetic test shows you do not have the altered gene that was found in your family , your risk of developing breast cancer is the same as women in the general population.

This also means any children you have, or may have in the future, will not inherit this altered gene.

If you have an altered gene

If the test shows you have inherited the altered gene found in your family , your chance of developing breast cancer, and possibly other cancers, is much higher than the general population.

This does not mean you will definitely develop breast cancer.

Your genetics team will discuss what options are available for you to manage your risk.

The options offered to you may include:

  • regular screening
  • risk-reducing surgery

You can read more about these options in our booklet Family history of breast cancer: managing your risk.

However, you do not have to take up any of these options if you choose not to.

Genetic Testing For Cancer Risk

  • Some people have an inherited gene fault that can increase the risk of developing certain types of cancer

  • Tests are available on the NHS that look for specific inherited faulty genes

  • You can also have a test that looks at a number of different genes at the same time. This is called a gene panel test

  • You need to consider important issues before deciding to have a genetic test

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The Risks Of Inherited Gene Mutations

Women who inherit the mutated BRCA1 gene have a 55% to 65% risk of breast cancer by age 70. Women with mutated BRCA2 have about a 45% risk. Men with a BRCA mutation are also at a higher risk of breast cancer.

Transgender and gender expansive people can also inherit these gene mutations. If youâre part of this community, you should consider that top surgery, which removes breast tissue, doesnât completely remove this risk.

Either mutation brings a higher risk of getting breast cancer at a younger age .

People who have a mutated BRCA1 or BRCA2 gene have a higher risk of a second primary breast cancer, too. Bilateral breast cancer is also more common in women who carry a BRCA1 or BRCA2 gene.

These mutations also raise your risk of ovarian cancer, fallopian tube cancer, peritoneal cancer, and pancreatic cancer. Men face a higher risk of prostate cancer.

Show Sources

Breastcancer.org: âGenetics,â âResearchers Identify 110 Genes Associated With Breast Cancer,â âRisk of Developing Breast Cancer,â âTypes of Genetic Tests,â âHER2 Status.â

CDC.

Journal of Cancer Education: âWhat Black Women Know and Want to Know About Counseling and Testing for BRCA1/2.â

National Institutes of Health, Genetics Home Reference: âBreast Cancer,â âPIK3CA gene.â

MedlinePlus: âAutosomal dominant.â

Mayo Clinic: âAutosomal dominant inheritance pattern,â âBRCA gene test for breast and ovarian cancer risk.â

National Comprehensive Cancer Network.

Testing For Brca And Other Gene Mutations

Genetic Testing for Breast Cancer

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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Testing For Tumor Gene Mutations

Testing for tumor gene mutations may also be done. The tests look at the genes in the cancer cells. Some may call these genomic tests.

Tests for tumor gene mutations do not look at your personal, hereditary genes. A sample of tumor tissue is checked for gene mutations in the cancer cells. Remember, these tumor gene mutations are in the breast cancer cells and not in the normal cells of your body. For some people with breast cancer, tumor gene testing can help guide treatment.

Is Breast Cancer Hereditary

If you have breast cancer, chances are itâs not caused by a faulty gene you were born with. Most of the time, genes that lead to the disease mutate sometime during your life and arenât an inherited problem.

But in about 5% to 10% of cases, the cause is hereditary. This means that the cancer is due to a gene change, called a âmutation,â thatâs passed down from a parent.

Researchers have identified hundreds of genes linked to breast cancer, but some seem to play more of a role than others.

Just because you have an inherited gene mutation doesnât mean youâll definitely get breast cancer. It only means you have a greater chance of it happening.

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Less Common Altered Genes

Women with an altered PALB2 gene have a 4463% risk of breast cancer.

TP53

Women with an altered TP53 gene have an up to 85% risk of breast cancer.

The lifetime risk for a person with an altered TP53 gene to develop any type of cancer is 90%.

CHEK2

Women with an altered CHEK2 gene have a moderate risk of developing breast cancer.

Moderate risk is higher than the general population. However, its still more likely they will not get breast cancer.

ATM

Women with an altered ATM gene have a moderate risk of developing breast cancer.

Moderate risk is higher than the general population. However, its still more likely they will not get breast cancer.

Other genes

Some genetic conditions caused by rare altered genes are also associated with breast cancer.

These include:

  • Peutz-Jegher syndrome
  • Cowden syndrome/PTEN hamartoma tumour syndrome
  • Hereditary diffuse gastric cancer syndrome gene)
  • Neurofibromatosis type 1

If one of these runs in your family, your genetics team will talk to you about your risk of breast cancer.

A Genetic Mutation Found On A Direct

Screening For The Breast Cancer Gene: Who Is At Risk?

If a direct-to-consumer genetic test shows you have a BRCA1/2 or other inherited gene mutation linked to breast cancer, meet with a genetic counselor to go over the test results.

In many cases, youll be recommended to get re-tested or have expanded panel testing done in a clinically-approved lab . Your health care provider or a genetic counselor can arrange this testing for you.

Learn more about direct-to-consumer genetic testing.

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Brca1 And Brca2 Genetic Testing Or Expanded Panel Testing

In most cases, the first person tested is the family member with breast cancer .

  • If no mutation is found, the cancer was unlikely due to a BRCA1/2 or other inherited gene mutation included in the test.
  • If a gene mutation is found, other family members may have the same gene mutation. If thats the case, they should consider targeted gene testing for the specific gene mutation or expanded panel testing that includes the mutation.

Does Someone Who Inherits A Cancer Susceptibility Variant Always Get Cancer

No. Even if a cancer susceptibility variant is present in a family, it does not necessarily mean that everyone who inherits the variant will develop cancer. Several factors influence whether a given person with the variant will actually develop cancer. One is the penetrance of the variant. When not all people who carry a variant go on to develop the disease associated with that variant, it is said to have incomplete or reduced penetrance. Hereditary cancer syndromes can also vary in their expressivitythat is, people who inherit the variant may vary in the extent to which they show signs and symptoms of the syndrome, including the development of associated cancers. Lifestyle factors and environmental risks can also influence disease expression.

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What Genetic Tests Are Available For Cancer Risk Assessment

More than 50 hereditary cancer syndromes have been described see the PDQ Cancer Genetics Overview for a list of familial cancer susceptibility syndromes. Most of these are caused by harmful variants that are inherited in an autosomal dominant fashionthat is, a single altered copy of the gene inherited from one parent is enough to increase a persons chance of developing cancer. For most of these syndromes, genetic tests for harmful variants are available.

Tests are also available for several inherited genetic variants that are not associated with named syndromes but have been found to increase cancer risk. Examples include inherited variants in PALB2 , CHEK2 , BRIP1 , and RAD51C and RAD51D .

How To Get Brca Genetic Testing

Breast Cancer Testing Guidelines Out Of Date, Missing Genetic Screening, Says Study

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.

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Genetic Testing For Breast Cancer

Breast cancer can run in families. Its important that you know your family history, as well as the genetic, medical or behavioral factors that increase your risk of developing breast cancer. Genetic testing for breast cancer can give you important information that you can use to be proactive with monitoring, screening and lifestyle changes that may reduce your risk.

Eric Jacksonon

Benefits Of Genetic Testing For Inherited Gene Mutations Related To Breast Cancer Risk

Genetic testing may give you information about your risk of developing another cancer, such as ovarian cancer or prostate cancer .

It may also help your family members better understand their risk of breast cancer and other cancers, such as ovarian cancer, prostate cancer or pancreatic cancer. In some cases, genetic testing may help tailor their cancer screening.

Talk with your health care provider or a genetic counselor about whether it would be useful to have genetic testing.

Learn more about genetic testing for inherited gene mutations related to breast cancer risk.

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How Are Gene Mutations Inherited

If you inherit a gene mutation for breast cancer, it means that you got it from one or both of your parents.

Many mutations, such as those found in the well-known BRCA1 and BRCA2 genes, are passed down in whatâs called an autosomal dominant pattern. This means that inheriting one bad gene from one parent may lead to an increased chance of disease.

If one of your parents has an autosomal dominant gene mutation, thereâs a 50% chance youâll inherit it. This is why we see the disease in many relatives, but not all of them.

Learning About Your Family Background

Breast Screening Genetic Test

If you or any of your family members have had breast cancer, you may be a candidate for genetic testing. The best way to get started is to learn more about your family history on your mothers and fathers sides. An abnormal gene that increases breast cancer risk is more likely to run in your family if:

  • your family is of Ashkenazi Jewish descent

You may be interested in meeting with a genetic counselor a medical professional specially trained to understand and provide information about genetics and disease. A genetic counselor works with you to build a family tree that shows all cases of breast, ovarian, and other types of cancer in your family, along with the ages at which they occurred. This visual history can help you determine whether or not genetic testing makes sense for you. Before you can build this family tree, however, you may need to do some research.

As you identify possible cases of breast cancer or ovarian cancer in your family, try to confirm them with medical records and a pathology report whenever possible.

For example, if one of your aunts died of liver cancer, its important to find out whether she was diagnosed with breast cancer that spread to the liver or with cancer that actually started in the liver. If your grandmother was diagnosed with stomach cancer, further investigation may show that it was really ovarian cancer that spread inside the abdomen, affecting her stomach.

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