It is believed that between 5-10% of cancers are caused by harmful genetic changes, or mutations, that have been inherited from a parent. Predictive genetic testing, which is different from genetic testing of tumors, can be used to screen for inherited gene mutations that could put you at higher risk of developing certain types of cancer.
Hereditary cancer screening that shows an inherited mutation helps guide your care in offering you specific screening tests, possibly testing at a younger age or more frequent testing than recommended for the general population. Counseling involves sharing things you could do to lower your risk as well as which treatments may be most effective based on personal and family history.
Advantia Health Hereditary Cancer Screening
Genetic testing for hereditary breast and ovarian cancers screens for mutations in the BRCA1 (breast cancer gene 1) and BRCA2 (breast cancer gene 2). These genes play a vital role in repairing damaged DNA, and mutations can increase the likelihood of developing breast and ovarian cancer.
Advantia Health hereditary cancer screening includes BRCA testing as well as other genes. Types of screening may vary by practice, so please confirm with your provider what is included in your test. Our experienced providers can discuss benefits and potential downsides of this screening and if it is recommended for you based on your family history. Some women choose to do the screening if they are adopted and have unknown history.
What Types of Cancers Are Hereditary?
Hereditary breast and ovarian cancer syndrome (HBOC) is linked to mutations of the BRCA1 or BRCA2 genes and makes someone more likely to get breast, ovarian, prostate (in men) and some other cancers. According to the American College of Obstetricians and Gynecologists, the estimated lifetime risk of breast cancer in women with BRCA1 mutations is 46% to 87%; for BRCA2, the risk is 38% to 84%.
Less common gene mutations, such as those of PALB2, ATM, CHEK2, CDH1, STK11, PTEN, TP53 and NF1 genes have been associated with other inherited breast cancers.
Most cancers are not caused by gene mutations; they develop due to environmental factors or other unknown circumstances. Because of this, hereditary cancer screening is not recommended for everyone.
Breast Cancer and BRCA Testing
HBOC, which significantly increases breast cancer risk, is diagnosed when a person suspected of having the syndrome has genetic testing performed to look for an inherited BRCA gene mutation in their cells.
The actual testing is done by collecting a sample of the individual’s DNA. This is most commonly done through a blood sample, but it can also be obtained from saliva. This analysis, performed in a lab, typically involves sequencing the genes to identify any alterations.
Negative test results mean that the test did not find a mutation in the genes it was tested for. If you have a family history of BRCA gene mutation, it means you have the same average risk as most other people.
A positive test result indicates that a person has a harmful change in BRCA genes and has an increased risk of developing certain cancers. However, a positive test result cannot tell whether or when the tested individual will develop cancer. Some people who inherit a harmful change in BRCA1 or BRCA2 never develop cancer.
When a genetic test indicates that an individual has a change in a gene, but it is unclear whether this change impacts cancer risk, it is classified as a variant of uncertain significance (VUS). This may represent a normal variant—essentially a less common version of a gene—or there may be other explanations for it.
Your healthcare provider can help you understand these results.
Help Manage Potential Genetic Risks
If you have been diagnosed with HBOC, there are guidelines that are followed to reduce your cancer risk or to facilitate early detection, making treatment more manageable:
- Consult your doctor about starting cancer screenings at an earlier age, increasing the frequency of screenings, or considering specific types of tests.
- Discuss the potential risks and benefits of taking oral medications for breast cancer risk reduction, known as chemoprevention.
- Explore with your doctor the pros and cons of preventive surgery to decrease your risk of breast and/or ovarian cancer.
- Inquire about additional strategies to lower your cancer risk, such as maintaining a healthy weight, staying active, and limiting or avoiding alcohol.
While BRCA testing can offer valuable insights, it can also lead to emotional challenges. Many individuals may experience anxiety or uncertainty about their risk and future health, and that of their family members.. Genetic counseling is often recommended to help individuals understand their options and support them through the decision-making process.
Who Qualifies for Genetic Testing for Breast Cancer?
Your healthcare provider can assess your family history and determine the best testing plan for you and your family.
Typically, genetic testing is recommended for those with:
- A strong family history of ovarian and breast cancers, or moderate family history combined with Ashkenazi or Eastern European Jewish ancestry.
- A personal history of breast cancer along with meeting certain criteria that can include age of diagnosis, type of cancer and family health history.
- A known mutation in the breast cancer (BRCA) genes in family members.
- A personal history of ovarian, fallopian tube or primary peritoneal cancer.
At What Age Should Cancer Screening Be Done?
The recommended age for cancer screening varies depending on the type of cancer and individual risk factors. It’s essential to consult with a healthcare provider to determine the most appropriate screening schedule based on personal and family medical history, lifestyle, and specific risk factors. For example, women with a family history of ovarian and breast cancers should consult with their provider due to increased risk for those cancers even if they do not test positive for HBOC.
The providers at Advantia Health are here to answer your frequently asked questions about women’s health, including concerns about needing and receiving hereditary cancer screening. Contact Advantia to book an appointment and learn more.
