Showing posts with label BRCA2. Show all posts

What is the BRCA Gene Mutation?

Monday, September 24, 2012 · Posted in , , , ,



This week is Hereditary Breast and Ovarian Cancer (HBOC) Risk Awareness Week.

The goal of HBOC Week is to raise awareness about hereditary cancer. HBOC Week marks the transition between National Ovarian Cancer Awareness Month and National Breast Cancer Awareness Month and recognizes anyone affected by hereditary breast or ovarian cancer, including women and men with BRCA mutations, people with a family history of cancer, breast and ovarian cancer survivors, and previvors, individuals who carry a strong predisposition to cancer but have not developed the disease.

Women with breast cancer or ovarian cancer may want to ask their physicians if their cancer has a genetic link.

The BRCA1 and BRCA2 genes, breast cancer susceptibility gene 1 and breast cancer susceptibility gene 2, are genes with several roles. One important role is to repair certain types of DNA errors that may occur each time a cell makes a copy of itself. Without a gene mutation, functional BRCA1 and BRCA2 genes help ensure the stability of the cell’s genetic material, or DNA, and help prevent uncontrolled cell growth. Mutations of these genes have been linked to an increased genetic risk for multiple forms of cancer, but most notably breast and ovarian cancer.

The lifetime risk of developing breast and/or ovarian cancer is greatly increased for women who inherit a harmful mutation in BRCA1 or BRCA2. These women have an increased risk of developing breast and/or ovarian cancer at an earlier than average age and may have multiple, close family members who have been diagnosed with these conditions.

Mutations in BRCA1 or BRCA2 may also increase the risk for pancreatic cancer and melanoma in both women and men. Men also have a higher chance to develop an earlier onset prostate cancer if a BRCA2 gene mutation is present. Men with BRCA1 or BRCA2 mutations also have an increased risk of male breast cancer.

Should you get tested for a BRCA gene mutation?


In a family with a history of breast and/or ovarian cancer, the first step may be to test a family member who has had breast or ovarian cancer. If that person is found to have a harmful BRCA1 or BRCA2 mutation, then other family members can be tested to see if they also have the mutation.

The Mariann and Robert MacDonald Women's Cancer Risk Evaluation Center provides genetic counseling to help people identify their genetic risk of breast cancer, ovarian cancer and other cancers.

The center assists patients with cancer as well as those individuals who may be at an increased risk for cancer.

The program is designed to:

  • Help people understand their genetic risk of breast cancer, ovarian cancer and other cancers.
  • Obtain and assess detailed family history information for possible inherited cancer conditions.
  • Provide expert genetic counseling and the option of genetic testing.
  • Arrange genetic testing and provide consultation regarding results.
  • Provide a clinical breast examination.
  • Provide tailored medical recommendations.
  • Review outside genetic testing results and make recommendations for follow-up.
  • Coordinate screening and long-term, follow-up care for those with a known inherited genetic risk for cancer.
  • Review medical history and lifestyle risk factors.
  • Provide a written summary of a genetic consultation.
  • Evaluate eligibility for participation in research studies.

The Mariann and Robert MacDonald Women's Cancer Risk Evaluation Center also provides information for those who have been diagnosed with cancer and are interested in learning about the role of genetics in their disease.

Some people are interested in obtaining this information for the benefit of their siblings, children and grandchildren. The center also holds education and support programs periodically throughout the year for individuals at high risk for developing cancer.

*Some of this information was adapted from the National Cancer Institute.

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. In this blog post, she explained genetic risk due to the BRCA1 or BRCA2 genes.

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Does cancer run in your family?

Wednesday, May 23, 2012 · Posted in ,

Sandy Cohen is VP, Volunteer Programs for FORCE: Facing Our Risk of Cancer Empowered. In this blog post she discusses the importance of knowing one’s family medical history to understand if cancer runs in the family, as well as an exciting awareness event on May 31, 2012.

After losing my 38-year-old grandmom and 54-year-old mom to breast cancer, I grew up believing that breast cancer was undoubtedly in my future. Today, I feel extremely fortunate that I discussed my family’s health history with the doctors at Penn’s Abramson Cancer Center. They assessed my risk and provided me information about how to reduce it. I believe that the potentially life-saving information they shared with me is a true gift, and I would like to share some of it with you.

How do you know if cancer runs in your family?

Look at your family (both on your mom and dad’s side) and see if you or any family member has had:
  • Ovarian or fallopian tube cancer at any age
  • Breast cancer at age 50 or younger
  • Breast cancer in both breasts at any age
  • Both breast and ovarian cancer
  • Male breast cancer

Also, look to see if more than one family member on the same side of the family has had any of these cancers:
  • Breast cancer
  • Ovarian or fallopian tube cancer
  • Prostate cancer
  • Pancreatic cancer

If any of these apply to you, I encourage you to seek guidance and support from a genetic counselor at Penn's MacDonald Cancer Risk Evaluation Center,  join our local group www.facingourrisk.org/philadelphia and join us for this special event to learn more.

Celebrate the Women in Your Life - An Exclusive Movie Screening of “FIVE”


Cancer survivors, previvors, family, friends and the general public are invited to enjoy a fun evening of drinks, hors d'oeuvres, desserts and fabulous raffle prizes while mingling and watching this incredible movie "FIVE."

Jennifer Aniston on the set of FIVE
Directed by Jennifer Aniston, Demi Moore and Alicia Keys and starring Jeanne Tripplehorn, this groundbreaking original movie is an anthology of five short films exploring the impact of breast cancer on people's lives. "FIVE" will make you laugh and cry, and it will remind you to celebrate all the women you love!

Time: 6:30 to 9 PM
Date: Thursday, May 31, 2012
Location: Smilow Center for Translational Research (adjacent to the Perelman Center), 3400 Civic Center Boulevard, Philadelphia, PA 19104
Registration: --> www.facingourrisk.org/RSVPPhila  
Cost: FREE ($25 suggested donation)


In addition, Catrina and Nicole Armstrong, Susan Domchek, MD, Carlette Knox, Beth Weiner Pfeiffer and Annette Ramke will be honored for their incredible help in raising awareness, sharing hope and making a difference to so many in the hereditary breast and ovarian cancer community.

Any questions, please contact  sandrac@facingourrisk.org .

Support for this event is generously provided by Mariann and Robert MacDonald.

FORCE: Facing Our Risk of Cancer Empowered is a national nonprofit organization dedicated to improving the lives of women and families affected by hereditary breast and ovarian cancer. Founded in 1999, FORCE provides serves thousands of families with support, education, advocacy, awareness and research specific to the needs of this community. For more information, please visit www.facingourrisk.org and visit the Facebook page at www.facebook.com/FORCE to interact with the FORCE community.

Learn about the Basser Research Center for BRCA1&2.

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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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What Age Should You Be Tested for BRCA Gene Mutation?

Thursday, May 10, 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. 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.
Read more

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Basser Reseach Center to Focus on BRCA1 and BRCA2

Tuesday, May 8, 2012 · Posted in , , , ,

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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