The Brca1/brca2 Genetic Health Risk Report Is Not A Comprehensive Cancer Screening Test
More than 1,000 variants in the BRCA1 and BRCA2 genes are known to increase cancer risk.
Our Genetic Health Risk report focuses on only three out of the more than 1,000 risk variants that are among the most studied and best understood. These three variants are most common in people of Ashkenazi Jewish descent and are much less common in people of other ethnicities.
Blood Testing For Her2/neu
Sometimes, especially when there is not enough tumor tissue available to perform the test, a blood sample is drawn from the patients arm to collect similar data. This blood test is called a serum HER2/neu test, and it can be used as part of the initial workup upon cancer diagnosis or to monitor the effectiveness of treatment. If initially the level of serum HER2/neu is elevated to more than 15ng/mL and then it falls, the treatment is likely working. However, if the serum level remains elevated, this indicates the treatment is not working. If the serum level declines but then, upon later testing, is elevated once again, this is a sign that the cancer could be recurring.
When all three of the tests come back negative for receptors for hormones and negative for HER2,;triple negative breast cancer;may be the diagnosis.
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Medullary Thyroid Cancer And Related Syndromes
Medullary thyroid cancer is a rare type of thyroid cancer. Between 3 and 10 out of every 100 thyroid cancers are this type. About a quarter of medullary thyroid cancers are caused by an inherited faulty gene which runs in the family.
Faulty genes may cause medullary thyroid cancer as part of rare syndromes called multiple endocrine neoplasia or MEN for short. The types of MEN that cause thyroid cancer are MEN2a and MEN2b.
People with MEN2a are also at higher risk of developing a rare type of cancer of the adrenal gland and overactive parathyroid glands. People with MEN2b are at higher risk of getting adrenal cancer and small growths on their tongue and lips.
If 4 or more members of a family have a medullary thyroid cancer but dont have any other cancer or a condition that may be linked to MEN, doctors usually diagnose it as familial medullary thyroid cancer .
Read about MEN and thyroid cancer in our information about thyroid cancer risks and causes.
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Are Test Results Accurate
Genetic testing is generally quite accurate. Although no test is right 100% of the time, the current methods used to detect genetic mutations produce trustworthy results. A false-positive result is very unlikely. A false positive result indicates an abnormality when none is actually present.
However, it is more likely that you could have a negative test result when you actually have a harmful gene mutation. This is because genetic tests will miss gene mutations they do not test for. Some genetic tests, such as direct-to-consumer tests, only look for particular gene mutations. They can miss other BRCA mutations or harmful mutations in other genes that may increase cancer risk.
In addition, our understanding of gene mutations and cancer risk is growing rapidly. Research is ongoing to discover new gene mutations that increase a persons risk of cancer.
Frequently Asked Questionsexpand All
Your obstetriciangynecologist or other health care professional should ask you questions about your personal and family history of breast cancer and ovarian cancer. The questions may include the following:
Have you had cancer of the ovary, fallopian tubes, or peritoneum?
Have you had breast cancer at age 45 years or younger?
Have you had breast cancer and do you have a close relative with breast cancer at age 50 years or younger, or a close relative with cancer of the ovary, fallopian tubes, or peritoneum?
Have you had breast cancer and do you have two or more close relatives with breast cancer at any age?
Have you had breast cancer and do you have two or more close relatives with cancer of the pancreas or prostate?
Have you had breast cancer and are you of Eastern or Central European Jewish ancestry?
Do you have a close relative with a BRCA1 or BRCA2 mutation?
If your answers to these or other questions suggest that you may have a BRCA mutation, genetic counseling and testing may be offered.
Before you have genetic testing, a genetic counselor or a physician who specializes in inherited types of cancer can help you understand how the testing is done, what the results may mean, and what you may do depending on the test results.
Genetic testing requires a sample of blood or saliva. There are several ways that testing can be done:
Pain, tenderness, or swelling
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If You Have A Family History Of Retinoblastoma
Children who have a parent, or brother or sister, who had retinoblastoma should be checked for retinoblastoma. They usually have screening from birth to the age of 3 years. This involves regular eye examinations under a general anaesthetic. How often and how long a child has screening for depends on their level of risk.;
Some children might also have a blood test for the RB1 gene. This is only possible if the family member who has had retinoblastoma can be tested first.;;
Read more about retinoblastoma.
About 3,400;people are diagnosed with thyroid cancer each year in the UK. There are a number of different types of thyroid cancer.
Repair Of Damaged Dna
In the presence of DNA damage, the cell can either repair the damage or induce cell death if the damage is beyond repair.
The seven main types of DNA repair and one pathway of damage tolerance, the lesions they address, and the accuracy of the repair are shown in this table. For a brief description of the steps in repair see DNA repair mechanisms or see each individual pathway.
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Your Race And Ethnicity
Overall, white women are slightly more likely to develop breast cancer than African American women, although the gap between them has been closing in recent years. In women under age 45, breast cancer is more common in African American women. African American women are also more likely to die from breast cancer at any age. Asian, Hispanic, and Native American women have a lower risk of developing and dying from breast cancer.
Risk in different groups also varies by type of breast cancer. For example, African American women are more likely to have the less common triple-negative breast cancer.
How Does The Oncotype Dx Breast Dcis Score Test Work
The Oncotype DX Breast DCIS Score Test analyzes the activity of 12 genes that can influence how likely the DCIS is to come back, either as another DCIS or as invasive breast cancer.
The Oncotype DX Breast DCIS Score Test assigns a Recurrence Score a number between 0 and 100 to the DCIS. You and your doctor can use the following ranges to interpret your results for DCIS:
- Recurrence Score lower than 39: The DCIS has a low risk of recurrence. The benefit of radiation therapy is likely to be small and will not outweigh the risks of side effects.
- Recurrence Score between 39 and 54: The DCIS has an intermediate risk of recurrence. Its unclear whether the benefits of radiation therapy outweigh the risks of side effects.
- Recurrence Score greater than 54: The DCIS has a high risk of recurrence, and the benefits of radiation therapy are likely to be greater than the risks of side effects.
You and your doctor will consider the Recurrence Score in combination with other factors, such as the size and grade of the DCIS and the number of hormone receptors the cancer cells have . Together, you can make a decision about whether or not you should have radiation therapy.
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Apoptosis And Cancer Prevention
DNA repair proteins are often activated or induced when DNA has sustained damage. However, excessive DNA damage can initiate apoptosis if the level of DNA damage exceeds the repair capacity. Apoptosis can prevent cells with excess DNA damage from undergoing mutagenesis and progression to cancer.
Inflammation is often caused by infection, such as with hepatitis B virus , hepatitis C virus or Helicobacter pylori. Chronic inflammation is also a central characteristic of obesity. Such inflammation causes oxidative DNA damage. This is due to the induction of reactive oxygen species by various intracellular inflammatory mediators. HBV and HCV infections, in particular, cause 10,000-fold and 100,000-fold increases in intracellular ROS production, respectively. Inflammation-induced ROS that cause DNA damage can trigger apoptosis, but may also cause cancer if repair and apoptotic processes are insufficiently protective.
Bile acids, stored in the gall bladder, are released into the small intestine in response to fat in the diet. Higher levels of fat cause greater release. Bile acids cause DNA damage, including oxidative DNA damage, double-strand DNA breaks, aneuploidy and chromosome breakage. High-normal levels of the bile acid deoxycholic acid cause apoptosis in human colon cells, but may also lead to colon cancer if repair and apoptotic defenses are insufficient.
In Situ Vs Invasive Breast Cancers
The type of breast cancer can also refer to whether the cancer has spread or not. In situ breast cancer is a cancer that starts in a milk duct and has not grown into the rest of the breast tissue. The term invasive breast cancer is used to describe any type of breast cancer that has spread into the surrounding breast tissue.
Invasive breast cancer has spread into surrounding breast tissue. The most common types are;;invasive ductal carcinoma;and;invasive lobular carcinoma.;Invasive ductal carcinoma makes up about 70-80% of all breast cancers.;
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How Is The Test Done
Before the test is done, speak to a genetic counselor to decide whether to have the test.
- Bring with you your medical history, family’s medical history, and questions.
- You might want to bring someone with you to listen and take notes. It is hard to hear and remember everything.
If you decide to be tested, your blood sample is sent to a lab that specializes in genetic testing. That lab will test your blood for the BRCA1 and BRCA2 mutations. It can take weeks or months to get the test results.
When the test results are back, the genetic counselor will explain the results and what they mean for you.
If You Have A Faulty Gene
If you have a faulty gene that increases the risk of ovarian cancer, what happens next will depend on which gene you have. Your specialist may suggest regular screening. Researchers are looking into the best way to do this. Or, depending on your age and whether youve had all the children you want to have, you may choose to have surgery to remove your ovaries and fallopian tubes.
Who Is Eligible For The Oncotype Dx Breast Recurrence Score Test
You may be a candidate for the Oncotype DX Breast Recurrence Score Test if:
- youve recently been diagnosed with stage I, stage II, or stage IIIa invasive breast cancer
- the cancer is estrogen-receptor-positive
- the cancer is HER2-negative
- the cancer is lymph node-positive or lymph node-negative
- you and your doctor are making decisions about chemotherapy
Most early-stage, estrogen-receptor-positive, HER2-negative breast cancers are treated with hormonal therapies, such as an aromatase inhibitor or tamoxifen, after surgery to reduce the risk that the cancer will come back in the future. Whether or not chemotherapy is also necessary has been an area of uncertainty for patients and their doctors.
If youve been diagnosed with early-stage, estrogen-receptor-positive, HER2-negative breast cancer, the Oncotype DX Breast Recurrence Score Test can help you and your doctor make a more informed decision about whether or not you will benefit from chemotherapy.
What Are The Benefits Of Genetic Testing
For some women, genetic testing may help you make informed medical and lifestyle decisions while easing the anxiety of not knowing their genetic background. You can also make a decision regarding prevention, with both medications and prophylactic surgery. In addition, many women take part in medical research that, in the long run, may lower their risk of death from breast cancer.
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Is There A Test For Hereditary Breast Cancer
Hereditary breast cancer is suspected when there is a strong family history of breast cancer: occurrences of the disease in at least three first or second-degree relatives . Currently the only tests available are DNA tests to determine whether an individual in such a high-risk family has a genetic mutation in the BRCA1 or BRCA2 genes.
When someone with a family history of breast cancer has been tested and found to have an altered BRCA1 or BRCA2 gene, the family is said to have a “known mutation.” Positive test results only provide information about the risk of developing breast cancer. The test cannot tell a person whether or when cancer might develop. Many, but not all, women and some men who inherit an altered gene will develop breast cancer. Both men and women who inherit an altered gene, whether or not they develop cancer themselves, can pass the alteration on to their sons and daughters.
But even if the test is negative, the individual may still have a predisposition to hereditary breast cancer. Currently available technique can’t identify all cancer-predisposing mutations in the BRCA1 and BRCA2 genes. Or, an individual may have inherited a mutation caused by other genes. And, because most cases of breast cancer are not hereditary, individuals may develop breast cancer whether or not a genetic mutation is present.
How Does The Oncotype Dx Breast Recurrence Score Test Work
The Oncotype DX Breast Recurrence Score Test analyzes the activity of 21 genes that can influence how likely a cancer is to grow and respond to treatment.
Looking at these 21 genes can provide specific information on:
- the likelihood that the breast cancer will return
- whether youre likely to benefit from chemotherapy to treat early-stage invasive breast cancer
So, the Oncotype DX Breast Recurrence Score Test is both a prognostic test, since it provides more information about how likely the breast cancer is to come back, and a predictive test, since it predicts the likelihood of benefit from chemotherapy or radiation therapy treatment. Studies have shown that Oncotype DX Breast Recurrence Score Test is useful for both purposes.
The Oncotype DX Breast Recurrence Score Test assigns a Recurrence Score a number between 0 and 100 to the early-stage breast cancer. Based on your age, you and your doctor can use the following ranges to interpret your results for early-stage invasive cancer.
For women older than 50 years of age:
- Recurrence Score of 0-25: The cancer has a low risk of recurrence. The benefits of chemotherapy likely will not outweigh the risks of side effects.
- Recurrence Score of 26-100: The cancer has a high risk of recurrence. The benefits of chemotherapy are likely to be greater than the risks of side effects.
For women age 50 and younger:
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Who Should Think About Being Tested
Before being tested, you should speak with a genetic counselor to learn more about the tests, and the risks and benefits of testing.
If you have a family member with breast cancer or ovarian cancer, find out if that person has been tested for the BRCA1 and BRCA2 mutation. If that person does have the mutation, you might consider getting tested, too.
Someone in your family may have the BRCA1 or BRCA2 mutation if:
- Two or more close relatives have breast cancer before the age of 50
- A male relative has breast cancer
- A female relative has both breast and ovarian cancer
- Two relatives have ovarian cancer
- You are of Eastern European Jewish ancestry, and a close relative has breast or ovarian cancer
You have a very low chance of having the BRCA1 or BRCA2 mutation if:
- You do not have a relative that had breast cancer before the age of 50
- You do not have a relative that had ovarian cancer
- You do not have a relative that had male breast cancer
Breast Cancer Risk Factors You Cannot Change
A risk factor is anything that increases your chances of getting a disease, such as breast cancer. But having a risk factor, or even many, does not mean that you are sure to get the disease.
Some risk factors for breast cancer are things you cannot change, such as getting older or inheriting certain gene changes. These make your risk of breast cancer higher.
For information on other known and possible breast cancer risk factors, see:
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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 .