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Genetic Testing In Breast Cancer

Who Should Get Genetic For Breast Cancer Genes

Genetic Testing for Breast Cancer

Ms. G. is a 40-year-old woman with two smallchildren. Like most women, she is concerned about her chances of developingbreast cancer. She asks her doctor about her risks. Although breast cancer is a worry for most women, Ms. G. is especially worried because of a family history of breast cancer. Her mother and sister had breast cancers that were diagnosedat young ages.

A woman with a family history of breast cancerhas a lot of concerns. Among other things, she is thinking of her job, children,and husband, as well as how her medical insurance and health team will be ableto serve her needs in the future should she be diagnosed with breast cancer.

Genetic Counseling And Testing For Breast Cancer Risk

Some people inherit changes in certain genes that increase their risk of breast cancer . Genetic testing can look for mutations in some of these genes. While it can be helpful in some cases, not everyone needs to be tested, and each person should carefully consider the pros and cons of testing. Its very important to understand what genetic testing can and cant tell you before these tests are done.

Can I Do Genetic Testing At Home

Some at-home genetic tests can help you determine breast cancer risk. These tests typically involve providing a sample of saliva or cheek cells and sending the sample by mail to be tested.

Its recommended that you seek genetic testing from a healthcare professional rather than using an at-home test for the following reasons:

  • an incomplete result: At-home tests may not cover all known variants of a gene, such as BRCA1 or BRCA2. Because of this, a negative result can be misleading.
  • unnecessary alarm: At-home tests may detect common genetic variants that are only associated with a slight increase in breast cancer risk, meaning that a positive result may cause unnecessary alarm.
  • genetic counseling: With genetic testing through a healthcare professional, youll often also have access to genetic counseling both before and after you receive your result. This can help you better understand your result in the context of your overall health.
  • privacy: Your privacy may not be ensured when you use an at-home test. If you do choose to use one, carefully review a companys disclosure policy beforehand.

Getting genetic testing for breast cancer risk has several benefits. But there are some risks involved as well.

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Affordable Care Act Coverage

The Affordable Care Act requires insurance plans that began on or after August 1, 2012 to cover genetic testing costs .

If you have a BRCA1/2 inherited gene mutation, the Affordable Care Act also requires coverage of counseling to help you decide if taking a medication to lower the risk of breast cancer is right for you.

Who Can Be Tested For Inherited Faulty Genes

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

You may be eligible for an NHS genetic test if cancer runs in your family and you are worried you may get it too. The test can tell you whether you have inherited a faulty gene that increases your risk of cancer.

Testing for genes that increase the risk of cancer is called predictive genetic testing. A positive result means you have an increased risk of developing cancer. But it doesn’t mean that you have cancer or will definitely develop it.

You may be eligible for an NHS genetic test if:

  • an inherited faulty gene has already been found in one of your relatives or
  • there is a strong family history of cancer in your family

You need to be referred for genetic testing by a specialist doctor .

You can have private genetic testing. But you need to think about this carefully. You can find out more about private genetic testing at the bottom of this page.

At the genetic clinic, you see a genetic specialist or counsellor. They will:

  • look in detail at your family history
  • work out your risk of developing cancer
  • work out whether you need a genetic test

Your first appointment might be at the clinic or over the phone. During this meeting, the counsellor will ask you questions about any members of your family who have had cancer. And how old they were when diagnosed.

Your genetic clinic appointment is your chance to ask questions. If youre not sure what to ask you can look at our questions for your doctor.

You could print them out and add any other questions that you might have.

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When Is Genetic Testing Not Recommended

Theres only a very small chance your family carries an inherited gene mutation related to breast cancer if you or a family member is the only person in your family with breast cancer .

Although you always have the option of being tested, in most cases, genetic testing isnt recommended when theres a very low chance of finding a gene mutation. Its strongly recommended you speak with a genetic counselor before deciding whether to have genetic testing. If you dont meet criteria for testing though, insurance may not cover the cost .

Most breast cancers are not due to a BRCA1/2 or other inherited gene mutation linked to breast cancer .

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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What A Positive Result Means

If your predictive genetic test result is positive, it means you have a faulty gene that raises your risk of developing cancer.

It does not mean you are guaranteed to get cancer your genes only partly influence your future health risks. Other factors, such as your medical history, lifestyle and your environment, also play a role.

If you have one of the faulty BRCA genes, there is a 50% chance you will pass this on to any children you have and a 50% chance that each of your siblings also has it.

You may want to discuss your results with other members of your family, who may also be affected. Staff at the genetics clinic will discuss with you how a positive or negative result will affect your life and your relationships with your family.

You can read more about BRCA1 and BRCA2 in the beginner’s guide to BRCA1 and BRCA2 produced by The Royal Marsden NHS Foundation Trust.

Insurance companies cannot ask you to disclose the results of predictive genetic tests for the majority of policies, but this may change in the future.

Legal And Financial Cost

Genetic testing for breast cancer patients is becoming more common

Some misconceptions around genetic testing for breast cancer are that the testing is expensive, insurance wont cover it, and youll be denied insurance in the future based on the results. None of that is true. The price is about $300 , and insurance will cover it if its considered medically necessary for people who meet certain criteria. A federal nondiscrimination law passed in 2008 stipulates that people cant use the information gathered against you.

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Talking To Your Family

If your test shows that you have a faulty inherited gene, some members of your family may also be at risk of having that gene. They may also need to have testing. It is helpful to think through how you would feel about this and what it would mean for them.

It is worth thinking about who you might need to tell once you know the result. Talking to your genetic counsellor can help you to work this out.

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.

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When Is Genetic Testing Recommended

The National Comprehensive Cancer Network only recommends BRCA1 and BRCA2 or expanded panel genetic testing for certain people with a high risk of having an inherited gene mutation related to breast cancer. This includes people with :

  • A family member with a BRCA1/2 inherited gene mutation or other high-risk inherited gene mutation related to breast cancer
  • A personal or family history of breast cancer at age 45 or younger
  • A personal history of triple negative breast cancer diagnosed at any age
  • A personal history of lobular breast cancer at any age, and a personal or family history of diffuse gastric cancer
  • Ashkenazi Jewish heritage and a personal or family history of breast cancer
  • A personal history of breast cancer at age 46-50 and a close family member diagnosed with breast cancer at any age
  • A personal history of breast cancer at 51 or older and a close family member diagnosed with breast cancer at age 50 or younger
  • A personal history of breast cancer at 51 or older and 2 or more close family members diagnosed with breast cancer or prostate cancer at any age
  • A close family member diagnosed with breast cancer at age 45 or younger
  • A close family member diagnosed with ovarian cancer, pancreatic cancer or metastatic prostate cancer at any age
  • A personal or family history of male breast cancer

Learn about genetic test results.

Online Tools To Help You Talk With Your Health Care Provider

How Do Single

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.

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Cancer Test For Hereditary Breast Cancer & Ovarian Cancer

BRCA Detection is a genetic test that detects BRCA1 or BRCA2 gene mutation in a patients body. People with a mutation in either the BRCA1 or BRCA2 gene have the following risks.

Women can develop breast cancer once in a lifetime

Women can develop ovarian cancer once in a lifetime

Men can develop prostate cancer once in a lifetime

People can develop pancreatic cancer once in a lifetime

A simple buccal swab sample can detect the BRCA1 or BRCA2 mutation. These cancers can be prevented if the healthcare providers are aware of the results, more treatable stage if it has been detected early.

How Accurate Is Genetic Testing For Breast Cancer

Generally speaking, genetic testing is quite accurate at detecting known genetic variants. But these tests cannot tell you whether youll eventually develop breast cancer.

Receiving a positive result means that, compared to the general population, youre at an increased risk of developing breast cancer. Different gene variations can be linked to different levels of risk.

A positive result doesnt mean that youre certain to get breast cancer in the future. In fact, its possible youll never develop breast cancer. Your genetic counselor can give you a better idea of your breast cancer risk.

Similarly, a negative result doesnt mean that youll never develop breast cancer.

Tests dont always cover a broad range of gene variations. Its possible that you may have a harmful variation that wasnt covered by your test.

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How Can A Person Who Has Inherited A Harmful Brca1 Or Brca2 Gene Variant Reduce Their Risk Of Cancer

Several options are available for reducing cancer risk in individuals who have inherited a harmful BRCA1 or BRCA2 variant. These include enhanced screening, risk-reducing surgery , and chemoprevention.

Enhanced screening. Some women who test positive for harmful BRCA1 and BRCA2 variants may choose to start breast cancer screening at younger ages, have more frequent screening than is recommended for women with an average risk of breast cancer, or have screening with magnetic resonance imaging in addition to mammography.

No effective ovarian cancer screening methods are known. Some groups recommend transvaginal ultrasound, blood tests for the CA-125 antigen , and clinical examinations for ovarian cancer screening in women with harmful BRCA1 or BRCA2 variants. However, none of these methods appear to detect ovarian tumors at an early enough stage to improve long-term survival .

The benefits of screening men who carry harmful variants in BRCA1 or BRCA2 for breast and other cancers are not known. Some expert groups recommend that such men undergo regular annual clinical breast exams starting at age 35 . The National Comprehensive Cancer Network guidelines recommend that men with harmful germline variants in BRCA1 or BRCA2 consider having a discussion with their doctor about prostate-specific antigen testing for prostate cancer screening starting at age 40 .

Who Else May Want To Consider Genetic Testing

Genetic Testing for Breast Cancer – Mayo Clinic

Although some people dont meet the criteria above for recommended genetic testing, genetic testing may still be appropriate. Genetic testing may be considered for people with :

  • Ashkenazi Jewish heritage, without additional risk factors
  • A personal history of bilateral breast cancer , first diagnosed at age 50-65
  • A 2½ to 5 percent chance of having a BRCA1/2 inherited gene mutation, based on a risk assessment model that use family history to estimate risk

Learn about genetic test results.

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Deltra Kroemer 34 Connecticut

This legacy photo was taken by Kroemers friend the holiday season after her diagnosis. Kroemer wanted her family to have a special portrait to remember her by.

Last year, Deltra Kroemer, a full-time homeschool educator, began doing regular breast self-exams. Her decision came after she saw a friend, whod recently caught her breast cancer early, post on Facebook about the importance of the monthly exam.

During one of Kroemers self-exams, she noticed a good-sized lump. She wasnt worried since she didnt really have a family history of breast cancer, but decided to get it checked out anyway. Kroemer went to her long-time doctor who also felt the lump, and subsequently made her an ultrasound appointment, during which the technician became concerned and called for the doctor, who then scheduled a biopsy. At that point, I was in what is called scanxiety in the cancer community, and I hadnt even been diagnosed yet, she explains.

Whats more important to me is not the time that I have left but what I do with that time.

Her doctors had ordered several tests right off the bat, including a genetic test, so Kroemer knew she had the BRCA1 gene mutation. Kroemer asked her team to consider her chances of developing other cancers, like ovarian, which was higher for her, with her mutation, than for the average person. So, as a preventative measure, she had her ovaries removed at the recommendation of her care team.

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

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