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February is Cancer Prevention Awareness Month. Here at the Abramson Cancer Center, we are committed to providing outstanding comprehensive cancer care and cancer information including ways to prevent cancer. Further, cancer researchers at Penn are at the forefront of learning new ways to prevent and detect cancer.

In this article, we discuss breast cancer, mutation of genes, specifically, the BRCA mutation, and how knowing your own BRCA status could impact the health care decisions you make in the future. 


BRCA1 and BRCA2 stand for breast cancer 1 and breast cancer 2. The BRCA1 and BRCA2 genes are present in all individuals. Everyone has two copies of each of these genes - one from each parent.

Mutations of genes are like spelling errors in the genetic code of a gene. Those who have a gene mutation in either the BRCA1 or BRCA 2 gene are at higher than average risk for developing certain cancers.

The BRCA1 and BRCA2 genes are responsible for the repair of certain types of DNA errors that may occur each time a human cell makes a copy of itself. Without a gene mutation, functional BRCA1 and BRCA2 genes help ensure the stability of cell's genetic material, or DNA, and help prevent uncontrolled cell growth. BRCA1 and BRCA2 can be genes causing cancer if they have a gene mutation.

Having mutations of genes, or an inherited gene mutation in BRCA1 or BRCA2 does not mean a person is guaranteed to develop cancer, but the chances are significantly higher than for someone who does not have a gene mutation.

The lifetime risk of developing certain types of cancer is greatly increased for women and men who inherit a BRCA1 or BRCA2 mutation.

Women and men who test positive for a BRCA gene mutation may refer to themselves as “previvors.”

A previvor is a survivor of a predisposition to cancer. Previvors have unique needs from people with cancer such as active surveillance and screening tests and often need to make treatment decisions based on their risk for inherited cancer.

Increasingly, women at high risk for breast cancer are choosing prophylactic mastectomy to greatly reduce their chance of getting breast cancer. While prophylactic mastectomy stories often make the front page, many women at increased risk for breast cancer choose other methods of managing their risk like enhanced breast cancer screening or risk-reducing medications. Jessica Long, CGC, a genetic counselor at Penn’s Basser Research Center for BRCA explains that “this is generally a very personal decision for each woman, even within the same family.”

Men and women with a BRCA1 or BRCA2 mutation may:

• Choose to start screening for breast cancer at age 25
• Receive specialized breast screening that includes regular mammography and breast MRI
• Participate in screening studies that offer cutting-edge technologies
• Be screened for ovarian cancer
• May choose to have ovaries or healthy breast tissue removed to reduce risk of developing cancer
• Also be candidates for other specialized types of enhanced screening
• Receive personalized medical recommendations for overall health

Mutations of Genes, and Cancer Research at Penn

The Basser Research Center 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 relevant to BRCA-related cancers.

Learn more about the Basser Research Center.

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.

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. Here she discusses cancer genetic risk, and when is an appropriate time to test children for the BRCA1 or BRCA2 gene mutation.

Women and men with a BRCA1 or BRCA2 gene mutation may have questions about when, and if, their own children should be tested for the same mutation.

Genetic mutations can be passed from generation to generation and it’s important for those with a known BRCA1 or BRCA2 gene mutation to tell their close relatives including siblings, aunts and uncles, parents and adult children. But at what age should you consider testing children for a BRCA1 or BRCA2 gene mutation?

Learning you have a significantly higher chance to develop cancer one day can be scary for anyone – so it is important to consider the value in learning this information for children, teenagers and young adults.

Extensive research in families with known genetic risk due to BRCA1 and BRCA2 has shown that there is no increased risk for cancer in children. Therefore, there are no recommended interventions or special screening methods implemented during childhood. In addition, by choosing to test a child, a parent takes away that individual’s right to decide whether, and when to receive this information. Legally someone can pursue genetic testing for BRCA1/2 mutations at age 18, but it is important to know that even at age 18, screening and follow-up recommendations will not change. This is because the cancer risks associated with BRCA1/2 rarely manifest before the late 20’s or 30’s. So at age 18, national guidelines show there is still isn’t much to do even if a BRCA1 or BRCA2 mutation is present.

At age 25 however, things start to change for young women. Women who test positive for a BRCA1 or BRCA2 gene mutation generally start annual mammography, breast MRIs and breast exams at age 25. Therefore, some find this is an optimal time to consider testing. Young men are sometimes interested in pursuing genetic testing at later ages, since there is no screening that starts for men until later. However, some young men are interested in genetic testing to use in reproductive decision making.

There is no “one size fits all” prescription for genetic testing. Genetic counseling allows each person to understand how they would be affected, and weigh the pros and cons of being testing based on their individual circumstances. Getting tested for a BRCA1 or BRCA2 gene mutation can be overwhelming at any age. Fortunately no one has to go through the process alone.

Genetic counselors at the Mariann and Robert MacDonald Cancer Risk Evaluation Program can provide you with information and support to help each individual make the best decision for themselves about if and when to be tested.

For more information about genetic testing at the Abramson Cancer Center, or to speak with a genetic counselor, call 215-349-9093

Watch the Abramson Cancer Center’s Focus on Your Risk of Breast and Ovarian Cancer Conference to learn more about cancer genetics and risk assessment.

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.

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.