Showing posts with label BRCA. Show all posts

Basser Event Promotes BRCA Research at Penn Medicine

Thursday, December 13, 2012 · Posted in ,

More than 400 patients, friends and faculty of the Abramson Cancer Center celebrated the transformational gift from Jon and Mindy Gray to establish the Basser Research Center for BRCA in New York and Philadelphia this fall.

The Basser Center will focus on prevention and treatment options for those with a BRCA 1 or 2 mutation and will provide a place for people to discuss their options and participate in research studies.

From left:  Chi Van Dang, M.D., Ph.D., Susan Domchek, M.D., Jon Gray and Mindy Basser Gray, Amy Gutmann, Ph.D., and J. Larry Jameson, M.D., Ph.D.
View more photos from the Philadelphia and New York events on Penn Medicine's Facebook page.

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.
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Life Worth Living: My BRCA Story

Friday, October 26, 2012 · Posted in , ,

Carlette Knox is a BRCA-positive, breast cancer survivor. She underwent a bilateral mastectomy and chemotherapy in 2010 as part of her breast cancer treatment. In 2011, she had a prophylactic oophorectomy (removal of her ovaries), to decrease her ovarian cancer risk. She founded the website Life Worth Living, where she shares her experience with breast cancer.  In this blog post, she talks about her journey.

In December of 2009, at the age of 34, I was diagnosed with breast cancer. Cancer, unfortunately, had been a topic of discussion in our family for many years. My mother was diagnosed at the age of 35 and she experienced the devastating loss of her mother to this disease while growing up. We also witnessed 2 of my aunts lose their battles with cancer. I knew firsthand the impact this disease had on the women in my family; the need to attack this diagnosis head on was evident. I was introduced to the risk assessment program and with the help of a genetic counsellor underwent testing to determine my cancer risks. Receiving a positive BRCA result armed with me the knowledge needed to make informed treatment decisions, this is when my journey began.

It was March of 2010 when I had my bilateral mastectomy, learning about BRCA put into perspective my risk of breast cancer recurrence and ovarian cancer. My decision to remove the non-impacted breast tissue was supported by clinical trial data as well as my personal experience. Seeing the effects of this disease throughout generations of women in my family was not a tradition I was willing to keep.

It took me about 6 weeks recover from the surgery. It was not a comfortable experience, but what kept me going was the resilience to save my life! I started chemotherapy, undergoing 16 cycles, with the support of a great clinical team. When I felt like giving up they would encourage me to keep on going. The doctors and nurses along with the support of my immediate family and church members helped me to remain hopeful and full of faith which ultimately kept me going through this journey. After chemotherapy it was recommended that I also have radiation therapy since so many of my lymph nodes were positive, this was a walk in the park compared to the chemo. I finished up my treatment at the end of 2010 right before the New Year which was a blessing since my birthday is January 1st!

Research has shown that BRCA positive patients also have an increased risk of ovarian cancer. My gynecologic oncologist recommended an oophorectomy (prophylactic removal of the ovaries to decrease the risk of ovarian cancer). This was a very simplistic procedure done laparoscopically February 2011. While the procedure itself was minimally invasive the decision was not without much emotional turmoil on the inside. In my mind, this would change my landscape as a woman and at such a young age. Ultimately, after researching the effects of ovarian cancer, I embraced this option as a blessing not a curse.

Today, I am physically and emotionally better than I could have ever imagined. I don’t look or feel like any of what I went through. It may sound a bit crazy, but I’m grateful for the journey. My faith is stronger and as a result of this life changing experience I’ve been able to embark upon yet another journey.

“Life Worth Living” is the realization of my passion to raise awareness, empower and support those impacted by cancer and to broadcast the message of hope aspiring them to live.
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How to Tell Your Family About Your BRCA Gene Mutation

Friday, May 11, 2012 · Posted in , , , ,

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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The BRCA Gene Mutation: Should You Tell Your Children?

Tuesday, January 24, 2012 · Posted in ,

Parents of who children learn they have the BRCA gene mutation have a difficult question to answer: Should they tell their children?

Jill Stopfer,MS, genetic counselor at Penn Medicine's Abramson Cancer Center, was recently interviewed by the Huffington Post about this topic.

"One of the questions we all have and we all worry about in this area is 'how much information is too much?'" said Stopfer. "Are we hopefully helping our children and not hurting them?"

Read the full article about telling children about a BRCA gene mutation here.  

Learn more about the MacDonald Women’s Cancer Risk Evaluation Center.
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