Approximately 1 in 500 Americans carry the BRCA1 or BRCA2 gene mutation, which can lead to hereditary cancers. Amy Byer Shainman, also known as the BRCA Responder, is a BRCA1 gene mutation carrier, author, and patient advocate who provides support and education surrounding BRCA and other hereditary cancer syndromes. Your Teen spoke to Shainman about teens with a family history of cancer and the health risks they face.
Q: What are the BRCA1 and BRCA2 genes?
Shainman: BRCA1 and BRCA2 genes are human genes that produce tumor-suppressing proteins. Each person has two of each of these genes. These proteins help repair damaged DNA and, therefore, play a role in ensuring the stability of each cell’s genetic material. When either of these genes is mutated, or altered, it does not function correctly, and the body may not be able to repair DNA damage properly. As a result, cells are more likely to develop additional genetic alterations that can lead to cancer.
Q: Do men or women carry this gene mutation?
Shainman: Both males and females can carry this gene mutation and pass it on to their daughters and sons. It is an autosomal dominant trait, meaning if you get the abnormal gene from only one parent, you have an inherent [known] risk of developing cancer. If one parent has the BRCA1 or BRCA2 mutation, then each kid has a 50% chance of inheriting it. If you have the mutation, you are born with an inherent risk of many different hereditary cancers. Not all siblings, however, will necessarily inherit the mutated gene.
Q: Is the gene mutation linked to specific ethnic groups?
Shainman: The average person in the United States has a 1 in 500 chance of carrying the BRCA1 and BRC2 mutation. It is certainly linked to specific ethnic groups/populations, but there are many different mutations. One of the groups with the highest risk is Ashkenazi Jews, who have a 1 in 40 chance of carrying the mutation, which is 10 times higher than the average population.
The most common cancers for women are breast and ovarian. Women with the BRCA1 gene mutation have an 87% risk of developing breast cancer over their lifetime; women with the BRCA2 gene mutation have a 40-50% of developing ovarian cancer. In men, the percentages of developing cancer are 8-9%, but the risk is still there. Male breast cancer and an especially aggressive form of prostate cancer are linked to the BRCA1 mutation.
Q: How did you learn you carry the BRCA1 mutation, and what did you do with that information?
Shainman: In 2008, my sister was diagnosed with ovarian and uterine cancer. Our grandmother had died of cancer very young, at age 33. After carefully considering my family history, in 2010 I had two prophylactic [preventive] surgeries to reduce my cancer risk drastically; a mastectomy with reconstruction, and oophorectomy [removal of the ovaries] with a hysterectomy. This is the same procedure Angelina Jolie elected to have when she learned she carried the BRCA1 gene mutation.
Q: What should young people with a family history of cancer know about their health risks?
Shainman: Current guidelines do not recommend testing before the age of 18. These are emotionally complex decisions. And it is up to each family to decide what information they want to give to their minor children. For families with an increased risk due to family history, the recommendations are to begin health screenings at age 25, or 10 years prior to the earliest onset of cancer in your family. In my family, for example, when my daughter turns 18, we will start talking about the importance of monthly manual breast self-exams. My grandmother was 33 when she died, probably 31 when she got sick; that means my daughter should start health screenings around age 21. These health screenings would consist of MRIs and ultrasounds in your twenties, then annual mammograms beginning at age 30.
Families with genetic mutations that heighten their risk for disease face many complex and personal decisions, including how and when to share such information with their children. Many parents express that they choose to undergo genetic testing to learn whether they have a mutation that could be passed on to their children. These parents may elect to have preventive surgeries. Often they’ll look for guidance on how to explain this decision to their children, as the decision to undergo these procedures impacts the entire family.
Q: Why do you urge families to consider genetic counseling?
Shainman: There are new gene mutations discovered daily. If you have a family history of a certain kind of cancer, it is important to have genetic counseling with a qualified counselor to stay in contact with developments. The genetic landscape is changing so rapidly there may be answers to whatever is going on in your family that there weren’t even a year ago. According to current treatment guidelines, increased risk due to family history alone is a reason to look for a certified genetic counselor.
Q: How can families figure out what to share with underage children?
Shainman: I encourage families to have age-appropriate conversations but give children enough information to answer their questions. These conversations will evolve as kids get older. Proactivegenes.com is a wonderful resource for teens and parents. Teens will be empowered to learn about their family health history. Parents will find advice on how to talk to children about genetic mutations that heighten their risk of cancer.
Q: Where can parents find a qualified genetic counselor?
Shainman: I recommend finding a certified counselor through the National Society of Genetic Counselors. Their website is findageneticcounselor.com. Genetic counselors are extremely important: There are over 50 hereditary cancer mutations, and you need a qualified expert to interpret genetic test panels. A negative test result can give you a false sense of security if you don’t have a qualified genetic counselor. With life-and-death decisions, make sure that the analysis of the test results is meaningful.