BRCA Gene Test for Breast and Ovarian Cancer Risk
Overview
The BRCA gene test finds changes in specific genes that can raise the chance of breast cancer and ovarian cancer. Healthcare professionals check these gene changes, known as mutations or variants, by using a small sample of blood or saliva.
The test mostly focuses on the BRCA1 and BRCA2 genes, but sometimes, doctors may also suggest a test that looks at more genes, especially if there are reasons to check for other risks.
Key Points about BRCA Testing
- Genes Examined: BRCA1, BRCA2, and sometimes other cancer-related genes.
- Sample Types: Blood or saliva.
- Who Might Consider Testing:
- People with a strong personal or family history of breast or ovarian cancer
- Those whose relatives have had certain types of cancer.
- Individuals recommended by a healthcare professional based on risk factors.
Parents often pass down these gene changes to their children, making family history an important factor when deciding about testing. If someone has these gene changes, their risk for breast cancer, ovarian cancer, or both is higher than average. In most cases, people who have a low or average chance of developing these cancers do not need testing.
Possible Test Results
| Test Result | Meaning |
|---|---|
| Positive | The lab found a gene change linked to higher cancer risk |
| Negative | The lab did not find any known harmful gene changes |
| Uncertain (VUS) | The lab found a gene change, but it is not clear if it affects cancer risk |
A genetic counselor helps people understand what the results may mean for their health. The counselor also explains options for managing risk, such as extra screenings or other steps. Genetic counseling before and after testing gives people a chance to ask questions and to think about how results might affect them and their family. Expert advice helps guide the decision about genetic testing.
Reasons for Genetic Testing
Genetic testing can help identify people at a higher risk for breast, ovarian, and other types of cancer. It is especially important for individuals with:
- A personal history of breast, ovarian, prostate, or pancreatic cancer
- Blood relatives diagnosed with these cancers
- Family members who tested positive for cancer-related gene changes
Families with a pattern of breast or ovarian cancer may have a family cancer syndrome, such as hereditary breast and ovarian cancer (HBOC). Here, genes like BRCA1 and BRCA2 play an important role, but testing often looks at additional genes. Testing is most useful when it starts with a family member who has had cancer.
If that person does not have a harmful gene change, others in the family might not require further testing. A genetics expert, such as a genetic counselor, can recommend tests tailored to personal and family history. They also explain the meaning of the results and help guide next steps.
Table: When to Think About Genetic Testing
| Personal or Family Cancer History | Consider Genetic Testing? |
|---|---|
| Diagnosed before age 50 | ✓ |
| More than one type of cancer | ✓ |
| Multiple relatives affected | ✓ |
Additional Genes Linked to Breast Cancer
While BRCA1 and BRCA2 are widely known, other genes also raise cancer risk. These include ATM, CHEK2, PALB2, and others. Healthcare providers might suggest multigene panel testing, which examines several cancer susceptibility genes at once, not just the BRCA genes.
This approach helps catch risks beyond what BRCA1 and BRCA2 can identify. It may be especially important if there is a strong family history of cancer, but no change is found in the BRCA genes alone.
List of Genes Often Included in Panel Tests
- BRCA1
- BRCA2
- ATM
- CHEK2
- PALB2
Possible Complications and Considerations
Healthcare professionals usually perform genetic testing for BRCA genes with a simple blood draw. The procedure carries low physical risk, such as mild bleeding, bruising, or feeling faint. The test does not cause long-term health problems. However, genetic testing can cause emotional stress after people get their results.
They might worry about their own health or feel anxious about passing risks to their children. Sometimes people feel sadness or guilt, especially if test results differ among family members. A positive finding could also make someone feel pressured to consider major preventive choices, like a double mastectomy. Genetic information can affect personal and social life.
People may worry about how it will influence their health insurance, even though the Genetic Information Nondiscrimination Act (GINA) offers some protections. Questions about insurance or job discrimination still make some people uneasy. Genetic counselors help people understand their results and manage their feelings. The table below outlines some of the key risks connected to BRCA testing:
| Risk Type | Example |
|---|---|
| Emotional | Anxiety, worry, guilt, stress |
| Family | Strained relationships, hard decisions |
| Social/Insurance | Health insurance concerns, discrimination |
| Medical | Minor issues from blood draw |
Testing may also uncover increased risks for other cancers, such as prostate, pancreatic, or melanoma. Support from trained professionals can help people deal with these challenges.
Steps to Get Ready
Before having a BRCA gene test, people should meet with a genetic counselor or a genetics-trained healthcare provider. They help decide if testing is needed and discuss which genes should be checked. They also review the advantages, risks, and any limits of the test. Preparing for the counseling visit may include:
- Collecting Family Medical History: List any relatives who have had cancer, especially breast or ovarian cancer, and their ages at diagnosis.
- Writing Down Personal Medical Details: This includes past tests, hospital visits, or any previous genetic testing results.
- Making a List of Questions: Writing questions ahead of time helps make sure nothing is forgotten during the meeting.
- Bringing Support: Having a trusted family member or friend present can be helpful for taking notes or offering support.
A genetic counselor uses risk assessment tools to estimate a person’s chance of having a gene change linked to cancer. They may also discuss cancer screenings that can help with early detection. After counseling, the decision to do genetic testing is personal.
It helps to think about how learning the results might feel emotionally or how it could affect family members. Sometimes, test results do not give clear answers about cancer risk, so it helps to prepare for different outcomes.
What to Expect from the Testing Process
When someone takes a BRCA gene test, a healthcare provider draws a blood sample from a vein in the arm. The lab then checks the sample for changes in DNA that may affect cancer risk. Sometimes a saliva sample is used instead if a genetic counselor suggests it. Key steps include:
- A needle takes a small amount of blood, or;
- A saliva sample is collected.
- The sample goes to a lab for DNA analysis.
A genetics expert can help decide the right test for each person.
Test Outcomes
Confirmed Gene Change Detected
A positive result from a BRCA1 or BRCA2 gene test means the lab found a change or mutation in one of these genes. This specific type of result shows that the person has a higher chance of developing certain cancers, including breast and ovarian cancer.
However, having a BRCA mutation does not guarantee the person will get cancer. After a positive result, the healthcare team will discuss follow-up steps. These might include:
- Regular Screenings: Such as earlier or more frequent mammograms and MRIs
- Preventive Medications: Drugs that can help lower cancer risk
- Surgical Options: Procedures like preventive mastectomy or oophorectomy
- Lifestyle Adjustments: Changes to daily habits that may impact cancer risk
The recommendations will depend on several things, like the person’s age, medical background, and their preferences. Meeting with a genetic counselor helps people talk through all the available choices. Below is a summary table of possible next steps:
| Follow-Up Step | What It Involves |
|---|---|
| More screening | Mammograms, MRIs, or exams more often |
| Preventive medicine | Taking medicines to lower risk |
| Risk-reducing surgery | Surgery to remove breast or ovaries |
| Support services | Counseling and support groups |
No Gene Change or Unclear Result
A negative BRCA test means the specific mutation being tested for did not appear in the sample. But this does not always mean no risk. If the test checked for a known family mutation and did not find it, then the person’s cancer risk may be similar to that of the general public. This is a “true negative” result.
Sometimes the lab identifies a gene change but does not know if it raises cancer risk. This is a “variant of uncertain significance.” The health team can explain what an unclear result could mean and answer any questions. Other key points about negative or unclear results:
- Unknown mutations can still cause genetic risk.
- Medical professionals may recommend regular check-ups, especially with changes in family medical history.
- Researchers continue to expand genetic knowledge.
- People with a past test may need to consider retesting if new information becomes available, especially if their family history changes.
