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Getting Ahead of Breast Cancer: Why Genetic Testing Can Save Your Life

Did you know approximately 1 in 300 people in the United States carries the BRCA1 or BRCA2 gene mutation that can lead to developing certain hereditary cancers? Amy Byer Shainman, also known as BRCA Responder, is a BRCA1 gene mutation carrier, author, and patient advocate providing 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: Everyone has BRCA1 and BRCA2 genes and those genes, when they’re working properly, produce proteins that suppress tumors. The proteins suppress tumors by repairing damaged DNA, helping to ensure the stability of each cell’s genetic material. When someone is born with a mutated BRCA gene, it may not repair DNA damage, which then leaves cells vulnerable to developing genetic alterations that can lead to cancer.

Q: In terms of inheritance, does it matter which parent carries this gene mutation?

Shainman: No. Inheritance is not determined by which parent carries the gene mutation. BRCA gene mutations are autosomal dominant traits, meaning if a parent of any gender carries a BRCA gene mutation, there’s a 50% chance they’ll pass down this genetic condition to their kids. If their child is born with the gene mutation, they have an inherent [known] risk of developing many different types of hereditary cancers. It’s possible that not all siblings will inherit the mutation because each child has their own 50% chance of inheriting the mutated gene.

Q: Are BRCA1 and BRCA2 gene mutations linked to specific ethnic groups?

Shainman: Any person of any race or ethnicity can have a BRCA1 or BRCA2 gene mutation. However, certain groups have a higher risk of mutation. For example, people with Ashkenazi Jewish ancestry have a 1 in 40 chance of carrying a BRCA gene mutation, which is a much higher risk than the general population in the United States, where chances are more like 1 in 300.

Q: What types of hereditary cancers are people with BRCA gene mutations at risk for developing?

Shainman: People born with BRCA1 and BRCA2 gene mutations have an elevated risk of developing certain types of cancers, including breast, ovarian, prostate, and pancreatic cancers.

Reports of risk percentages for developing cancers vary slightly, depending on the resource. A solid reference is this table by the Basser Center for BRCA: Lifetime BRCA1 and BRCA2 Cancer Risks for Women and Men.

Q: How did you learn you carry the BRCA1 mutation, and what did you do with that information?

Shainman: My grandmother died of metastatic breast cancer very young, at age 33. In 2008, doctors diagnosed my sister with ovarian and uterine cancer. I took a genetic test after my sister’s diagnoses, and in December 2009, I found out that I carried a BRCA1 gene mutation. That genetic test result and my family’s history of cancer provided the impetus for me to undergo two prophylactic surgeries in 2010 to reduce my cancer risk drastically — a double mastectomy with breast reconstruction, and an oophorectomy (removal of the ovaries) with a hysterectomy. I’m not alone in getting these preventative surgeries. Angelina Jolie, for example, also elected to have prophylactic surgeries after learning that she carried a BRCA1 gene mutation.

Q: What should young people with a family history of cancer know about their health risks?

Shainman: 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. Ultimately, it’s up to each family to decide how much to divulge. Medical recommendations for families with an increased risk of developing cancer due to family history are to begin health screenings at age 25, or 10 years prior to the earliest onset of cancer in your family — but keep in mind that current guidelines do not recommend testing before the age of 18.

In my family, my grandmother was 33 when she died, probably 31 when she got sick; that means my daughter should start health screenings at approximately age 21. When my daughter turns 18, we’ll start talking about the importance of monthly manual breast self-exams. In her 20s, she’ll have health screenings with MRIs and ultrasounds, then beginning at age 30 she’ll have annual mammograms. She’ll also have transvaginal ultrasounds and CA 125 blood marker tests, or hopefully some other more reliable screening method for detecting ovarian cancer (because currently, there are none). 

Another factor influencing what families tell their kids about their health risks might be if parents undergo genetic testing and learn they have a mutation that they might pass down to their kids. If they find they have a genetic mutation, some parents may then elect to undergo preventive surgeries. At some point, they’ll probably need to explain to their children why they’ve chosen preventative surgeries, as the decision to undergo these procedures impacts the entire family.

Q: Why do you urge families to consider genetic counseling?

Shainman: I recommend genetic counseling because scientists discover new gene mutations daily. If your family history includes a certain kind of cancer, it’s important to be in regular contact with a qualified genetic counselor to stay up to date with medical developments.

The genetic landscape is changing so rapidly, today there may be answers to whatever is going on in your family that weren’t available even a year ago. According to current treatment guidelines, even just an increased risk of developing cancer due to family history is a reason to look for a certified genetic counselor. 

Even if you have previously undergone genetic testing with no mutations found, it’s vital to check back with your genetic counselor at least once a year. Why? New mutations may have been discovered, or a variant of unknown significance (VUS) may have been reclassified as deleterious (pathogenic or harmful).

This is what happened in the case of Jeanne Evert Dubin, the sister of tennis star Chris Evert. Jeanne’s VUS in BRCA1 was reclassified as pathogenic about twenty months after her death. This reclassification was crucial information for Chris Evert, who carried the now pathogenic genetic variant. Evert chose to have her uterus and ovaries removed ‘preventively,’ but when her tissue returned from pathology, they found that, in fact, Chris already had ovarian cancer. Fortunately, the tumor was stage 1C and Evert’s prognosis is favorable.

Q: How do you recommend families share this health information with their underage children?

Shainman: I encourage families to hold age-appropriate conversations, giving  children enough information to answer their questions. These conversations will evolve as children mature and get older. Proactive Genes is a wonderful resource for teens and parents. The site aims to empower teens to learn about their family health history and it offers parents advice about how to talk to children about genetic mutations that heighten their risk of cancer. This article by a certified genetic counselor is another helpful resource for parents.

Q: Where can parents find a qualified genetic counselor?

Shainman: I recommend finding a certified counselor through the National Society of Genetic Counselors. And here I’ll reemphasize that having a genetic counselor is vital. There are so many genetic tests out there — a certified genetic counselor is the most qualified expert to assess cancer risk, order appropriate tests (if any), and interpret those genetic test results.

Even if genetic testing comes back negative, a family history of cancer alone may still indicate an elevated risk for certain cancers. That’s why it’s so important to have a genetic counselor on your team. They know how to uncomplicate the nuances of your family history and genetic testing. They understand that when you’re facing a possible cancer diagnosis, it’s imperative that test results provide you with meaningful data so you can make an informed decision about your life.

Updated October 2022

Amy Byer Shainman

Amy Byer Shainman, also known as BRCA Responder, is an advocate providing support and education surrounding BRCA and other hereditary cancer syndromes. She’s also the executive producer of the award-winning documentary “Pink & Blue: Colors of Hereditary Cancer.” And, she has written a book about her experience being diagnosed with a BRCA1 mutation titled “Resurrection Lily,” which has won over 14 awards and was the December 2020 book selection of The National Library of Medicine. For more information about Shaiman and her book, please go to her website: http://brcaresponder.com/resurrection-lily-book/

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