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
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
What Causes Breast Cancer With No Family History
Despite this, the vast majority of breast cancer patients have no family history of the illness. Hereditary genes that enhance the risk of cancer Certain breast cancer-related gene mutations can be handed on from parents to children. BRCA1 and BRCA2 are the two most well-known gene mutations. Women who carry these mutations have a greatly increased risk of developing breast and ovarian cancer.
Women with breast cancer and no family history of the disease may still have an inherited mutation in one of their BRCA genes. This is especially true for women under age 50. Sometimes a woman doesn’t know she has a gene mutation, but her doctor can identify it using tests that look for changes or deletions in certain genes. If a mutation is found, treatments tailored to deal with cancer risks associated with the mutation will be recommended.
Not all women with breast cancer lack a family history of the disease. About 5% of cases occur in women over 50 who have no known cause for their cancer other than random chance. These are called sporadic cancers. Sporadic cancers are more likely to be aggressive and spread quickly compared to cancers in younger people or those with family histories of the disease. Sporadic cancers are also more likely to be caused by environmental factors rather than genetics.
About 20% of women with early-stage breast cancer have no family history of the disease.
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Mutations In Other Genes
Research shows that mutations in the chromosomes, along with having the mutations in the BRCA1 or BRCA2 genes, can mean an increased risk for developing breast cancer. There are also other genes besides the BRCA genes which have been associated with breast cancer, but, in these, mutations causing the disease are rare.
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 .
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What To Do If Your Genetic Test Results Are Uncertain
Sometimes, genetic testing results arent clear about whether you have an increased risk of developing breast cancer or other cancers. Your results may look as follows:
Uninformative or indeterminate: If you have a strong family history of breast or ovarian cancer, but all of you have tested negative for genetic abnormalities, theres a chance that you have all inherited a genetic abnormality that researchers havent yet identified. If you tested negative for genetic abnormalities, but nobody in your family who has been diagnosed with breast cancer has gotten genetically tested, its also possible that youve inherited a still unidentified genetic abnormality.
Inconclusive or showing a variant of unknown significance: Sometimes a genetic test finds an unusual change, or variant, in genes that researchers have not clearly associated with increased breast cancer risk. It may become clearer whether the unknown variant is associated with cancer risk as more of your family members get tested. You also may need to keep in touch with your genetic counselor to find out whether more information becomes available about the unknown variant your genetic test found.
Its normal for people who dont get definite results from genetic testing to feel anxious. Speaking with your doctor and genetic counselor to figure out steps you can take next may help address any concerns you have.
What Is A Gene
Each persons DNA contains the code used to build the human body and keep it functioning. Genes are the small sections of DNA that code for individual traits. For example, someone with naturally red hair has a gene that causes his or her hair to be red.
All inherited traits are passed down through genes. Each person has two copies of every gene: one gene from each parent. Since each parent passes down exactly half of their genes to each child, any of the parents genetic traits has a 50% chance of being passed on to their offspring.
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What Is Breast Cancer
Breast cancer is a type of cancer that starts in the breast. It starts when cells in the breast begin to grow out of control.
Breast cancer cells usually form a tumor that can often be seen on an x-ray or felt as a lump. Breast cancer is most common in women, but men can get breast cancer, too.
Breast cancer cells can spread to other parts of the body and grow there, too. When cancer cells do this, its called metastasis.
Cancer is always named based on the place where it starts. So even if breast cancer spreads to the bones , its still called breast cancer. Its not called bone cancer unless it starts from cells in the bone.
Who Should Consider Genetic Testing For Brca1 And Brca2 Inherited Gene Mutations
Genetic testing is only recommended for people with a high risk of having a BRCA1/2 inherited gene mutation , including those with :
- A family member with a BRCA1/2 inherited gene mutation
- A personal 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 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 age 51 or older and a close family member diagnosed with breast cancer at age 50 or younger
- A personal history of breast cancer at age 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
In most cases, testing for BRCA1/2 inherited gene mutations is first done on the person with breast, ovarian, pancreatic or prostate cancer.
- If no mutation is found, the cancer was not due to a BRCA1/2 gene mutation.
- If a BRCA1/2 gene mutation is found, other family members can be tested for the specific mutation.
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How Are The Brca1 And Brca2 Genes Inherited
All our genes come in pairs we inherit one of the pair from our mother and the other from our father. When we have children, we randomly pass on one of each pair. If a person has an alteration in a BRCA1 or BRCA2 gene, each of their children has a 50:50 or one in two chance of inheriting it. An alteration can be inherited from either parent.
If a person has not inherited a BRCA1 or BRCA2 alteration, they cannot pass it on to their children.
Brca1 Brca2 Palb2 And Other Altered Genes
The most common inherited altered genes that increase the risk of breast cancer are called BRCA1 and BRCA2 .
BRCA1 and BRCA2 genes usually protect us from developing breast and ovarian cancer. However, inheriting an alteration in one of these genes increases the risk of developing cancer.
Other less common altered genes may also increase the risk.
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Does Your Family Health History Put You At Risk
Collect your family health history of breast, ovarian, and other cancers and share this information with your doctor. You can inherit BRCA and other mutations from your mother or your father, so be sure to include information from both sides of your family. Include your close relatives: parents, sisters, brothers, children, grandparents, aunts, uncles, nieces, nephews, and grandchildren. If you have had breast, ovarian, or other cancers, make sure that your family members know about your diagnosis.
Tell your doctor if you have a personal or family health history of any of the following:
- Breast cancer, especially at a younger age
- Triple-negative breast cancer at age 60 or younger in women
- Cancer in both breasts
- Breast cancer in a male relative
- Ovarian, fallopian tube, or primary peritoneal cancer
- Pancreatic cancer
- Metastatic or high grade prostate cancer
- Breast, ovarian, pancreatic, or high grade prostate cancer among multiple blood relatives
- Ashkenazi or Eastern European Jewish ancestry
- A known BRCA or other cancer-related mutation in the family
You can use the My Family Health Portrait tool to collect your family health history information and share this information with your doctor and other family members. Update your family health history information on a regular basis and let your doctor know if any new cases of breast or ovarian cancer occur.
What Are The Benefits Of Genetic Testing For Brca1 And Brca2 Variants
There can be benefits to genetic testing, regardless of whether a person receives a positive or a negative result.
The potential benefits of a true negative result include a sense of relief regarding the future risk of cancer, learning that one’s children are not at risk of inheriting the family’s cancer susceptibility, and the possibility that special check-ups, tests, or risk-reducing surgeries may not be needed.
A positive test result may allow people to make informed decisions about their future health care, including taking steps to reduce their cancer risk.
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Taking Control Of My Life
My sisters recovery and subsequent treatment continues. Her body and blood scans are clear, and by all accounts she is now cancer-free. However, because her cancer was triple negative and so aggressive, chemotherapy and radiation were both recommended.
She started her first course of chemotherapy and it was worse than we had anticipated. Nausea, dry heaving, exhaustion, pain, and all the rest were a daily occurrence. I knew it wouldnt be a cakewalk, but I wasnt expecting this.
She turned to me and said: Please dont get cancer, do whatever you have to do, and dont wait. We are ticking time bombs.
I lay on the table and looked into my surgeons eyes. One tear fell and she wiped it away with the gown that was covering me. I wondered if Id ever look the same. I wondered if Id feel the same.
I wondered if she was being dramatic because of what she was going through, but I knew in a way she was right. Time wasnt on my side. I knew shed be a survivor, but I had the chance to be a previvor. I decided to take whatever steps necessary to survive this mutation before anything really bad could happen.
And so, I began investigating. I met with breast surgeons, plastic surgeons, and a gynecological oncologist. I had an MRI, a mammogram, a sonogram, a pelvic ultrasound, and countless other blood tests. As of now, I do not have breast or ovarian cancer. I was thorough and sought second opinions, but knew what I had to do.
Do You Have The Breast Cancer Gene
Angelina Jolies admission a few months ago that she had both breasts removed in a double mastectomy, after testing positive for the breast cancer gene, has put a spotlight on breast cancer prevalence.
Yet according to a local doctor, while the story has boosted breast cancer awareness, it fails to point out that only 5% of women carry this gene leaving 95% of women who dont carry it, but could still develop breast cancer.
Dr Owen Nosworthy, a Specialist Physician/Medical Oncologist at Wits Donald Gordon Medical Centre says that Angelinas case is rare and exceptional as the gene responsible, BRCA1, is actually very rare and he cautions against women rushing out to get tested.
The genetic test for BRCA1 is not freely available and requires that your doctor refers you to a specialist who will then take your blood to get tested. The average woman is unlikely to test positive for it, however, and I wouldnt recommend that many women do this unless they have a family history of breast cancer.
The implications of the test are quite profound and women who undergo it need counselling before they do so. The reason for this is that if you do test positive for the gene, it has a major impact on your future, he says.
Breast cancer in SA
While there are no figures on how many women have breast cancer in South Africa, Dr Nosworthy says the numbers are significant and breast cancer is one of the most common cancers in South Africa.
What to do if youre at risk?
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What Happens If I Have The Breast Cancer Gene
People with BRCA or PALB2 gene mutations are more likely than the general population to acquire breast cancer, and they are more likely to develop it at a younger age. Women who carry a BRCA1 or BRCA2 mutation have a 4565 percent likelihood of developing breast cancer before the age of 70. Those who carry a PALB2 mutation have a 10-20 percent risk of early onset breast cancer.
Women who have had one breast removed because of a previous diagnosis of breast cancer also have a higher risk of getting breast cancer in their other breast. This is because more cells exist that could grow into tumors if you do not get cancer eventually. The same thing applies if one breast is diagnosed with cancer even if it has been removed. It is important to remember this when deciding what kind of treatment to pursue for each breast independently.
Women who have had both breasts removed because of a previous diagnosis of breast cancer have almost exactly the same risk of getting cancer in their other breast as those who have only one remaining breast. Here too, more cells exist that could grow into tumors if you do not get cancer eventually.
Women who have had their ovaries removed because of a previous diagnosis of ovarian cancer have an increased risk of getting breast cancer in their remaining breast.
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 were still developing. Radiation treatment in older women does not seem to increase breast cancer risk.
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Significantly Enriched Kyoto Encyclopedia Of Genes And Genomes Pathways
KEGG pathway analyses of four intrinsic subtypes containing up-regulated and down-regulated genes. A Up-regulated genes in the Luminal A group B Down-regulated genes in the Luminal A group C Up-regulated genes in the Luminal B group D Down-regulated genes in the Luminal B group E Up-regulated genes in the basal-like group F Down-regulated genes in the basal-like group G Up-regulated genes in the HER2-enriched group H Down-regulated genes in the HER2-enriched group the x-axis indicates fold enrichment, different colors represent log10 , and circle sizes represent gene numbers in a specific pathway. Abbreviations: KEGG, Kyoto Encyclopedia of Genes and Genomes