BRCA1, familial breast-ovarian cancer susceptibility 1

Living with

Does knowing about BRCA1 help you know which pre-surgical chemotherapy to do?

In 2016, knowing that you have a BRCA1 mutation and breast cancer does not currently change the type of chemotherapy doctors suggest before surgery (neoadjuvant chemotherapy). Determination of which pre-surgery chemotherapy to use is based on the doctor's judgment. However, there are laboratories developing very specialized genetic testing on tumors to help doctors make decisions on which chemotherapy to use. An example of one such company is Bioarray Genetics who have developed an RNA-based predictive test (BA100) that is hoping to be able to identify breast cancer patients who will and will not realize a complete response to the standard-of-care taxane-based pre-surgical chemotherapy. More information on the test in development can be found on the Bioarray Genetics website.

Beyond pre-surgical chemotherapy, There are studies looking at post-surgery breast cancer treatment in individuals diagnosed with HER2 negative breast cancer who also have inherited mutations in the BRCA1 or BRCA2 genes. These studies are trying to figure out if taking medications such as Olaparib, an FDA-approved targeted therapy that inhibits the action of PARP (poly adenosine diphosphate-ribose polymerase), can reduce the risk of breast cancer recurrence after standard therapy in patients with BRCA1 or BRCA2 mutations. Several studies in other cancers, such as ovarian cancer, have shown that olaparab is effective in patients with BRCA1 or BRCA2 gene mutations. More information about this study and others like it are available Clinicaltrials.gov

References
Show More Content Like This

More Living with Content

My mother had the BRCA test and variant of uncertain significance was identified in the BRCA1 gene. If I was to have the test would it show the same or is there a possibility that I could have a normal result.

Is it safe for people with BRCA1 gene mutations to use hormone replacement therapy after an oophorectomy and for people with BRCA1 gene mutations?

Will taking birth control increase the risk for breast cancer in people with BRCA1 gene mutations?

Is prenatal testing available for Hereditary Breast and Ovarian Cancer syndrome and the BRCA1 gene mutation?

My mother had the BRCA test and variant of uncertain significance was identified in the BRCA1 gene. If I was to have the test would it show the same or is there a possibility that I could have a normal result.

If a mother has the BRCA test and a variant of uncertain significance was identified in the BRCA1 gene, there's a 50% chance that a daughter's test would show the same result as her mother's, and a 50% chance that her test would have a normal result.

Each of us has thousands of genes that tell our bodies how to develop and function. Not all changes in these genes are bad. If a lab test finds a change in the BRCA1 gene, but can not say for sure whether the change increases the chance of developing cancer, then it is call a variant of unknown certainty (VUS). As more people get tested, the laboratory will gain more information about the VUS change and will either decide that it is harmless or that it does, in fact, pose a higher risk of cancer. In that case, the person's cancer screening and risk management should be based on her own personal and/or family history of cancer.

When more information becomes available about that specific change or variant, it may be reclassified as pathogenic (disease-causing), likely pathogenic (likely disease-causing), likely benign (likely not disease causing), or benign (not disease causing). However, reclassification can take a long time and not all laboratories doing testing watch for new data available to change a VUS's classification and/or issue new reports. For some perspective, more than 80 million genetic variants have been uncovered in the human genome, and for the most there is no clear understanding of their role in human health and disease. The best way to know if a VUS has been reclassified as disease causing or not is for the person with the test result to ask their doctor to double check with the laboratory. The doctor should ask the laboratory for a updated review of current information on the change and if the VUS will be or has been reclassified. For some genes such as BRCA1, websites have been created by laboratories that make it very easy for a doctor to find out if a VUS has been reclassified. Examples include: BRCA Share for BRCA1 mutations by Quest diagnostics.

For people who have been found to have a VUS in BRCA1 or BRCA2, they may also choose to participate in the the "Free the Data" project. "Free the Data" is a grassroots initiative which asks people who have had genetic testing for the BRCA1 and BRCA2 genes to share their results and health information with the "Free the Data" team so that they can enter them into ClinVar, an open-access database of mutations run by the NIH in order to gain a better understanding of hereditary breast and ovarian cancer. This step is important as not all testing laboratories enter their information into confidential, but publicly accessible databases like Clinvar where researchers can use them. The goal of the "Free the Data" movement is to understand more information about mutations and variants of unknown significance (VUS) in BRCA1 and BRCA2. Over time, the campaign hopes to expand to encompass all genes and all mutations, powering new research and better health for all. To learn more about the "Free the Data" movement and how people can be involve visit the Free the Data website.

We each have two copies of the BRCA1 gene in our bodies, one that we inherit from our mother, and the other that we inherit from our father. When we have children, we pass down just one copy of our BRCA1 gene. Imagine a mother with a variant of unknown significance in one of her copies of BRCA1 gene, and the other does not have any changes. This means that there is a 50% chance that a daughter inherited that change from her, but also a 50% chance that she did not inherit that change. In other words, there's a 50% chance that a daughter's test could show the same result as her mom's, or a 50% chance that her test would have a normal result. The daughter's cancer screening and risk management should also be determined based on her own personal and/or family history of cancer.

A genetic counselor or genetic nurse can help you understand your cancer risk and breast management based on your personal and family history.

References
  • Ask a ThinkGenetic Counselor, October 12, 2016
Is it safe for people with BRCA1 gene mutations to use hormone replacement therapy after an oophorectomy and for people with BRCA1 gene mutations?

There is much debate over this question. Use of hormone replacement therapy (HRT) can increase the risk for breast cancer. Many physicians are nervous to prescribe HRT to a woman whose risk for breast cancer is already high. The benefits of HRT after prophylactic oophorectomy can greatly improve quality of life for some women though. Some research has shown that prophylactic oophorectomy reduces the risk for breast cancer even with HRT use. More specifically, one study demonstrated that short-term use of HRT following an oophorectomy did not significantly alter breast cancer risk. There are many factors to discuss with your healthcare provider before deciding whether you should use HRT.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1247/
  • Rebbeck, T.R., Friebel, T., Wagner, T., et al. Effect of short-term hormone replacement therapy on breast cancer risk reduction after bilateral prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol. 2005; 23: 31: 7804-7810
Will taking birth control increase the risk for breast cancer in people with BRCA1 gene mutations?

The use of oral contraceptive pills (birth control pills) leads to a decreased risk of developing ovarian cancer. More specifically, studies have shown that the use of birth control pills reduced the risk of ovarian cancer by up to 45-50% in BRCA1 mutation carriers. That being said, some studies suggest that using birth control may increase the risk for breast cancer. Other research shows that birth control pills prescribed today do not increase early-onset breast cancer risk for women with BRCA1 gene mutations since nowadays pills contain a lower dose of estrogen. There are many different types of oral contraceptive pills, and the risks differ based on the specific formula. The benefits of oral contraceptive use may outweigh the potential negative consequences for some women. It is important to talk with your physician about what is right for your health.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1247/
  • Milne, R.L., Knight, J.A., John, E.M., et al. Oral contraceptive use and risk of early-onset breast cancer in carriers and noncarriers of BRCA1 and BRCA2 mutations. Cancer Epidemiol Biomarkers Prev. 2005; 14: 2: 350-356
  • McLaughlin JR, Risch HA, Lubinski J, et al. Reproductive risk factors for ovarian cancer in carriers of BRCA1 or BRCA2 mutations: A case-control study. Lancet Oncology 2007; 8(1):26-34.
Is prenatal testing available for Hereditary Breast and Ovarian Cancer syndrome and the BRCA1 gene mutation?

Preimplantation genetic diagnosis (PGD) is available for Hereditary Breast and Ovarian Cancer syndrome if one of the parents is known to carry a BRCA1 mutation. PGD is performed on embryos produced through IVF. PGD allows for parents to only implant embryos into the mother's uterus that do not have the BRCA1 gene mutation. PGD is still a very costly procedure though, and it is not guaranteed to lead to pregnancy every time.

Some labs may accept prenatal specimens for genetic testing if a parent is known to carry a BRCA1 mutation. With prenatal testing, the baby's DNA is tested during the pregnancy to determine whether the baby has the BRCA1 gene mutation. The procedures available to obtain the baby's DNA during a pregnancy are associated with a risk of pregnancy loss. Prenatal testing is not commonly utilized or recommended for adult onset conditions like Hereditary Breast and Ovarian Cancer syndrome.

We use cookies to ensure that we give you the best experience on our website. By continuing to browse this site, you are agreeing to our use of cookies.

Continue Find out more about our use of cookies and similar technology

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me