How to Tell Your Family About Your BRCA Gene Mutation

Jill Stopfer, MS, is a certified genetic counselor at the Mariann and Robert MacDonald Women’s Cancer Risk Evaluation Center at Penn’s Abramson Cancer Center. She discusses cancer genetic risk, and implications for you and your family members after testing positive for the BRCA1 or BRCA2 gene mutations.

When faced with a breast cancer or ovarian cancer diagnosis, many women ask: “Is there a genetic link?”

For women with a personal or family history of breast or ovarian cancer, this question may be even more relevant. In recent years, researchers have discovered that harmful gene mutations in the BRCA1 and BRCA2 genes may increase a person’s risk for breast, ovarian and other cancers in both women and men.

The good news is that there are now proven interventions to both lower cancer risk and optimize chances for early cancer diagnosis for those who are aware they carry this risk. Through the process of genetic testing, usually performed as a blood test, these genes can be examined. And, if a mutation in either BRCA1 or BRCA2 is discovered, women and men can take a proactive approach to preventive care and screening. Those who may already have cancer may receive personalized treatments based on those test results.

Discussing the presence of genetic risk for cancer with the family can sometimes raise challenging issues. Some people don’t want to upset their relatives or they feel it’s not the right time to tell a relative. And, others don’t know how to bring it up.

Who to tell you have a BRCA1 or BRCA2 gene mutation

For people who have tested positive for a BRCA1 or BRCA2 gene mutation, the first and foremost thing to do is give yourself time to come to terms with what these test results mean to you. When you feel you are able, it may be important to consider a strategy for sharing this personal information with relatives in order to provide them with potentially lifesaving information. Often relevant people in the family to tell include:

• Adult children
• Siblings
• Parents, aunts, uncle
• Anyone with a parent who has/had a related form of cancer

How to tell a family member you have a BRCA1 or BRCA2 gene mutation

Find out how much your relative knows about the BRCA1 or BRCA2 gene mutations. Be ready to share some general information about how BRCA1 or BRCA2 can affect someone’s risk for developing certain kinds of cancer.

Start by sharing that you have been found to carry this genetic risk and that there are things family members can do to lower their own risk of cancer and improve their odds of early diagnosis.

• Genetic information can be hard to understand so avoid medical terminology.
• Only share your personal opinion about what to do if asked.
• Provide printed information – printed information is available through the Cancer Risk Evaluation Program.
• Communicate directly whenever possible, either in person, on the phone, or even electronically. Even a letter is a good way to let others know.
• Don’t just give information, listen as well.

You may suggest family members and friends get information for themselves from a qualified expert in cancer genetics. It’s important to tailor your communication to the individual. You know best how a relative may react to this news.

 

Sharing can save a life

There are some things you can plan for and some things you can’t. Knowing about genetic risk for cancer informs someone about things you can do to improve your chances for good health. Knowing your genetic risk for cancer and family history can help you make informed decisions about screening, prevention and sometimes tailored treatments or therapies. .

Sharing information about risk can be lifesaving. When you tell a family member about your increased genetic risk, you are empowering them to learn more about their own health and make their own informed decisions about health care.

Ask for help – genetic counselors at the Mariann and Robert MacDonald Cancer Risk Evaluation Program can provide you with information and support to help you communicate with your loved ones. They can also help identify local cancer genetics experts if your relatives do not live in the area.

To make an appointment with one of our genetic counselors or to be seen though the Cancer Risk Evaluation Program please contact Jonathon Colon at 215-349-9093.

View presentations from the 2011 Focus On Your Risk of Breast and Ovarian Cancer Conference. 

The Basser Research Center to Focus on BRCA1 and BRCA2

The Basser Research Center — BRC for BRCA — supports research on the BRCA1 and BRCA2 genes, harmful forms of which are linked to greatly increased risks of developing breast and ovarian cancer. The Center is named in honor of Mindy Gray’s sister, Faith Basser, who died of ovarian cancer at age 44.

The Basser Research Center was established with a $25 million gift to the University of Pennsylvania from alumni Mindy and Jon Gray.


Emphasizing outreach, prevention, early detection, treatment and survivorship, the Basser Research Center will contribute to all stages of research and clinical care related to BRCA-related cancers.

Learn more about the Basser Research Center.

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Basser Reseach Center to Focus on BRCA1 and BRCA2

A $25 million gift to the University of Pennsylvania from alumni Mindy and Jon Gray will establish a center focused on the treatment and prevention of cancers associated with hereditary BRCA mutations.

The Basser Research Center — BRC for BRCA — will support research on the BRCA1 and BRCA2 genes, harmful forms of which are linked to greatly increased risks of developing breast and ovarian cancer. The Center is named in honor of Mindy Gray’s sister, Faith Basser, who died of ovarian cancer at age 44.

Emphasizing outreach, prevention, early detection, treatment and survivorship, the Basser Research Center will contribute to all stages of research and clinical care related to BRCA-related cancers.

“We hope that the Basser Research Center will eliminate BRCA-related cancers and, in doing so, provide a road map for curing other genetic diseases,” Mindy and Jon Gray said. “We also want to make sure that families have a center dedicated to helping them with the complex issues arising from a BRCA diagnosis. As Penn graduates, we are fortunate that our alma mater has the world-class medical facilities and gifted researchers essential for this mission.”

The Center will be located within Penn’s Abramson Cancer Center at the Perelman School of Medicine. The gift will create an endowed professorship in the field of oncology to be known as the Basser Professorship, recruit additional faculty, enhance core technologies such as bioinformatics and DNA vaccine production, launch an annual lectureship and establish the Basser Prize to honor cutting-edge research.

The Grays’ gift will support research with a particular focus on interdisciplinary work and an acceleration of bench-to-bedside implementation of scientific findings.

Susan Domchek, associate professor of medical oncology and current director of the MacDonald Women’s Cancer Risk Evaluation Center at the Perelman School of Medicine, will serve as the founding executive director of the Basser Research Center and will lead its strategic direction.

Read the full press release about the Basser Research Center.

Learn more about the Basser Research Center.

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How Good are Do-it-yourself Genetic Tests?

Do you wonder if you have a gene mutation that put you at higher risk for certain types of cancer?

Today, direct-to-consumer genetic testing is available for anyone who is interested in knowing their risk for certain cancers like melanoma and breast cancer. In some cases, ordering an at-home test is just a few clicks away from your home computer.

While these tests may be easy to order online, deciphering the results are not as easy. Not every company requires testing be facilitated through physician or genetic counselors. Other companies do require that testing be sent through a provider. Not all providers ordering such tests may be adequately trained to interpret results and understand the current limitations and shortcomings of this testing. Such tests currently do not capture all heritable cause for disease and some providers and patients may overestimate clinical utility.

In fact, as more people have access to getting such genetic tests, researchers are trying to determine whether the general public is able to accurately interpret the test results without speaking with a qualified physician or genetic counselor.

While some researchers argue everyone should have access to their own genome information, they also acknowledge that interpreting the results can be confusing and, at times, alarming.

This article from the National Cancer Institute discusses direct-to-consumer genetic testing, the risks of genetic testing at home, and how the public is interpreting these results.

Would you want to know your risk for certain types of cancers?

Learn more about genetic testing for breast and ovarian cancers at the Abramson Cancer Center’s MacDonald Women’s Cancer Risk Evaluation Center.

Learn more about genetic testing for gastrointestinal cancers at the Abramson Cancer Center’s Gastrointestinal Cancer Risk Evaluation Program.

View the 2011 Focus On Your Risk of Breast and Ovarian Cancer – a conference designed to address the personal and medical issues facing those at risk for breast and ovarian cancers

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