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Showing posts with label BRCA. Show all posts
Showing posts with label BRCA. Show all posts

Something Stronger Than Me - A Previvor Story

Katrina is an editor for a medical publication, and lived in South Jersey with her two daughters and husband. In January 2013, she found out that she is a carrier for the BRCA1 mutation. Katrina is returning to her writing roots by blogging through the experience as she weighs family planning, surgical measures vs. surveillance, and the impact all of it will have on her family. In her spare time, she practices yoga and spends time with her extended family.
“Pour me something stronger than me.” ~Nashville

I jotted that lyric down last season, not long after finding out about my BRCA gene. And it came rushing back when we went to see Decoding Annie Parker, a 2013 movie that tells the story of Annie Parker and Dr. Marie Claire King.

The movie looks at parallel journeys — that of Annie Parker, a woman dealing with a heavy family history of breast cancer, and Mary-Claire King, the geneticist who spearheaded the discovery of the BRCA mutations.

Parker’s personal and family history of cancer is eventually explained by a mutation in BRCA1. This  gene sequence Dr. King’s team studied led to the discovery of its role in increasing the risk of breast and ovarian cancer.

The realism with which they portrayed Parker’s chemotherapy treatments hit me in the gut. The swelling. The hair loss. The vomiting. The scarves. I’ve watched four women very close to me endure it. One still is enduring it. They were and are the strong ones. Not me.

Not long after, my friend posted this photo essay in which a photographer documented his wife’s battle with cancer. You can feel the heartache, almost touch the physical pain.

All of these things scared me. I thought, “I don’t know if I can be that strong. I don’t know if I can fight like they did.” I’m sure if it came down to it I would, but in the moment I only felt weakness. I wanted to schedule my preventive surgeries right then and there. As much strength as I knew it would take to follow through, it won’t be the strength I would need to go through chemo. To put my girls through watching me suffer in my fight.

Living with the BRCA Mutation

There are days I manage to forget the decisions weighing on my shoulders, but not for long.

It’s in the 3-day walk for breast cancercommercials. It’s in my bee necklace that my best friend sent me. It’s in the Pandora bracelet we gave my best friend for her 30th birthday that I now wear.

But it’s mostly at night - when I’m feeding and rocking my baby or reading stories to my toddler that I think about all the memories we have yet to make. It’s then that I wonder what kind of example I’m setting for them or what they will think someday when they understand. Or what kind of torture it will be to not pick them up in the days and weeks after my mastectomy. Or if they will poke and prod at my “foobs” and ask why I’m not soft and comfortable for nighttime snuggles any more.

I can only hope they have vague memories of the days or weeks that mommy wasn’t be able to pick them up and millions of fresh memories of the times I did, of the times I ran with them, danced with them from kitchen dance parties to their own weddings.

I cannot help but shed tears over the chance that I passed this on to one or both of them. I pray that they will have many more options than I have or that this won’t even factor into their lives. (And all of this emotional weight, all of these decisions don’t even factor in the debate of whether to have another child).

Knowledge is Strength

Some days I feel very much like the oncologist quoted in this amazing pictorial, Before Angelina:
“When I told my friends about my upcoming procedure, some of them looked at me like I was crazy, like it was a brutal mutilation. They told me to just wait and to see what happened, but I told them the idea of getting the breast cancer diagnosis and having chemo was something I couldn’t face. Maybe I was a coward, but I felt like at that point I still had a choice.”
I see “Save the Tatas” a thousand times a day and all I can think is, “Take mine away. Save me from the tatas.” In many ways I’ve faced this reality head-on, but in many ways, I’m still trying to outrun it.

So my goal for this year is to continue to educate myself. For me, knowledge is strength when you feel you have none. And sometimes I’m more scared than strong.

Movies like Decoding Annie Parker and news stories like 
Before Angelina helped Katrina learn more about BRCA.  
For a list of supportive resources, including top BRCA reads, visit Basser.org

Basser External Research Grant Program Receives Additional Funding

Penn Medicine's Basser Research Center for BRCA has announced the Basser External Grant Program, that focuses on projects designed to advance the care of individuals living with BRCA1 and BRCA2 mutations.

Bringing Support to BRCA1/2 Research

The Basser External Grant Program has been made possible thanks to an additional $5 million donation from University of Pennsylvania alumni and Basser Center founders, Mindy and Jon Gray.

“As the nation’s only center solely devoted to research into the prevention and treatment of BRCA-related cancers, the Basser Research Center for BRCA is uniquely positioned to help fund team science and original ideas,” says Dr. Chi Van Dang, director of Penn Medicine’s Abramson Cancer Center.

The grant program provides support for basic science, early detection, translational or clinical research and relevant to the study of BRCA1/2.

“This generous award by the Grays will help expand the mission of the Basser Center by allowing us to support innovative researchers outside of Penn and widen the circle of those who are working to find new ways to prevent and treat cancers associated with BRCA mutations,” says Dr. Susan Domchek, executive director of the Basser Research Center and the Basser Professor of Oncology at the Abramson Cancer Center.

“There are many research teams doing exceptional work in BRCA1/2 research who are finding it difficult to compete for the shrinking pool of federal and foundation funding for biomedical research, and this program provides a new avenue to accelerate progress across the field.”

Recognizing and funding leaders in the field of BRCA research is a cornerstone of the Basser Center’s mission

Last year, the first Basser Global Prize was awarded to cancer biology and genetics expert Alan Ashworth, chief executive officer of the Institute for Cancer Research in London and leader of the Gene Function team in the ICR’s Breakthrough Breast Cancer Research Centre.

As part of the award, Dr. Ashworth, a pioneer in efforts to develop therapies to target cancer cells that contain BRCA1 and BRCA2 mutations, will give the keynote address at the annual Basser Research Center for BRCA Symposium in May 2014.

In 2013, the Basser Center awarded its second year of grant funding—more than $2 million—to 19 Penn investigators representing a wide array of disciplines.

Read the official press release in full here. To learn more
about the Basser Team Science Award and Basser Innovation Award visit Basser.org.

Know how Knowing Your BRCA Status May Help Prevent Cancer

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. 

BRCA-Gene-Mutation

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.

Partners in Cancer Care and Life

If there is one thing Jill Stopfer, MS, knows for sure it is this: She didn’t win her husband over with her cooking.

Jill, a certified genetics counselor and founding member of the cancer genetics program at the Abramson Cancer Center, met her husband, Director of the Center for Genetics and Complex Traits, Tim Rebbeck, PhD, while completing their studies in cancer genetics and hypertension genetics, respectively, in Ann Arbor, Michigan.

“Tim had a pot-luck dinner at his house one night, and I thought I would make pop-overs to bring,” remembers Jill. “They were easy and I made them all the time, so I knew they’d be a hit with everyone.”

Unfortunately, something went awfully wrong with her recipe, and her famous pop-overs looked and felt more like hockey pucks than food.

“I brought them to the dinner as a joke, and we all got a laugh out of it,” says Jill. Tim was so impressed with her cooking, he placed the pop-over on his shelf for everyone to admire.

Classroom Crush

Like so many classroom crushes, Jill and Tim’s began with teasing.

“I was from South Dakota, and she was from New York, so we liked to pick on each other,” says Tim. “In terms of differences, there couldn’t be more!”

“We both definitely had really different backgrounds and upbringing, but that’s part of why we find each other so interesting,” says Jill.

The couple married, and moved to the Philadelphia area shortly after their graduation.

“Within a month, we’d married, moved across the country and starting working here,” says Jill. “It was a great way to start our new life together.”

Similar Interests…and Careers

While they both have very serious and sometimes challenging careers, they find support through each other.

“We’re both really engaged in what we do, and are passionate about our careers,” says Tim. “Understanding each other’s work is helpful when it comes to supporting each other, and inspiring each other; we both really love what we do.”

“Because I work with cancer patients, or people who are going through cancer genetics testing, and he works on the research side of cancer genetics, we both enjoy hearing about each other’s experiences,” says Jill. “Sometimes I share with patients what he is doing in the lab, and vice versa.”

Outside of work, the couple likes to spend time with their two daughters skiing, listening to live music and enjoying outdoor activities.

“We love to ski and listen to live music,” says Jill. “I still find him just as fascinating as the day we met.”

This year, Jill and Tim will celebrate their 22nd anniversary.

And as for the pop-over-turned-hockey-puck?

“We still have that hockey puck,” says Tim. “It’s even in a special, crystal dish!”

Learn more about Jill and Tim's work at the Basser Research Center for BRCA.


Chemoprevention for Breast Cancer


Rebecca Mueller, MS, is a certified genetics counselor at the Basser Center for BRCA. In this blog post, Rebecca discusses chemoprevention, and chemopreventive medications currently used to prevent breast cancer.



There are certain medications that can help prevent breast cancer in women who are at high risk. Chemoprevention is taking a medicine in an attempt to lower cancer risk. Chemopreventive medications can provide additional choices for high-risk women.

Tamoxifen is medication that has been used for more than 20 years to treat women with breast cancer. Usage is also associated with reduced numbers of breast cancer occurrences in the opposite breast. A national study of more than 13,000 healthy women at increased risk determined that tamoxifen can lower the risk of developing breast cancer by 49 percent.

Raloxifene (also called Evista) is a medication shown to have positive estrogen-like effects on bone density and cholesterol levels that also decreases breast cancer risk.

Both medications have risks that should be discussed with your doctor.

It is likely that eventually there will be more medications available for chemoprevention, so staying in touch with your medical team is crucial. It is important to know all current alternatives including the risks and benefits of each before making a decision about chemoprevention.

Basser-Center-Penn-BRCA-gene-mutation

About the Basser Center for BRCA

The Basser Research Center for BRCA is located within Penn's Abramson Cancer Center at the Perelman School of Medicine. The new center supports research on the BRCA1 and BRCA2 genes, harmful forms of which are associated with greatly increased risks of breast and ovarian cancer development. The center is being named in honor of Mindy Gray's family, the Bassers.

The goal is to learn from today's patients to impact care for generations of cancer patients to come. The Basser Research Center infuses powerful resources to support cancer care and research at every stage of the cancer diagnosis:
  • Communication
  • Outreach & Risk Assessment
  • Prevention
  • Early Detection
  • Treatment
  • Survivorship
Learn more about the Basser Center for BRCA


February is Cancer Prevention Month, and this month we are featuring blogs all about cancer prevention. "Like" the Abramson Cancer Center of the University of Pennsylvania on Facebook to get cancer prevention tips, cancer education and cancer research news throughout the whole year.

Tattoos: The Last Step in My Journey to Wholeness

In this guest post from her own personal blog, Jane reflects on her choice to get nipple and areola tattoos as part of breast reconstruction following a bilateral prophylactic mastectomy.

For as long as I can remember, I've been a straight arrow. Growing up, I kept my room neat, did my homework and chose as my friends similarly minded. I did what I was supposed to do, completed what I started, wore little makeup, didn't get my ears pierced until middle school, and never, ever considered getting a tattoo.

Fast-forward four decades.

Not much about my personality has changed, but I do have two tattoos, and when they faded to the point that they were nearly invisible, I chose to have them redone. Don’t bother looking for a decorative rosebud on my shoulder, an alluring bird behind my ear or an inspiring phrase in Latin inked down my spine, however. You won’t find any such tattoos on my skin. In fact, it’s not likely that you’ll ever see my tattoos at all.

That’s because I chose to get nipple and areola tattoos as the final step in the reconstruction of my breasts after I had a bilateral prophylactic mastectomy several years ago.

Like Angelina Jolie, I’d tested positive for a BRCA gene mutation, and this genetic defect – which is 10 times more prevalent among Ashkenazi Jews than in the general population – significantly increased my lifetime risk of developing breast, ovarian and several other types of cancer.

I always knew I’d get the tattoos – so much so that I never even considered not getting them, despite my straight-arrow personality. They were a part of the plan from the beginning, relieving me of the need to research and ponder all the options; list the pros and cons of each; and think, rethink and over-think my decision a thousand times. I’d already done all of that in making the choice to have the prophylactic bilateral mastectomy and reconstruction in the first place.

All told, I had three separate surgeries over the course of 18 months.

Individually and collectively, they took a tremendous toll on my body and on me, and the scars – both physical and emotional – remain. Although they continue to heal a bit each day, I’m not sure they’ll ever fade completely.

15 months after the last surgery, my body finally was ready for the tattooing. Once the tattoos healed, I could hardly believe the incredible power they had to transform my transplanted tissue mounds into breasts. For the first time since my mastectomy, my “faux” breasts looked like real breasts, and my body looked complete. More than transforming my breasts or completing my body, my tattoos restored the rest of me – my spirit, my soul, my deepest self – to wholeness.

Although I will never again be the person I was before my BRCA test, I’m still a straight arrow – with tattoos. Every day, they remind me of the strength and courage it took for me to change my life’s course to ensure that my genetics would not dictate my destiny. My tattoos remind me, too, that the path I’m on is the right one for me, that I’m lucky to be where I am, and that the same strength and courage that helped guide me on that journey to wholeness continue to guide me today.

Jane E. Herman, is a BRCA2 mutation carrier and volunteers as an Outreach Coordinator for FORCE: Facing our Risk of Cancer Empowered in New York City and blogs regularly about her BRCA journey and other slices of her life at JanetheWriter Writes… 

BRCA and the Arts


What does classical music have to do with hereditary breast and ovarian cancer?

This fall at the Jewish Community Center in Manhattan, the fifth season of PREformances with Allison Charney begins, with funds raised benefiting The Basser Research Center for BRCA of Penn Medicine’s Abramson Cancer Center and programs at the Jewish Community Center in Manhattan that promote early detection of cancer and care for those living with breast and ovarian cancer.

Given that one in forty carrier individuals of Ashkenazi Jewish ancestry carries a mutation in the BRCA1 or BRCA2 genes, the series also plays an important role in educating the community about hereditary forms of breast and ovarian cancer.

PREformances affords celebrated classical musicians the opportunity to try out new concert repertoire in front of understanding audiences prior to performing it in major venues.

Read the Examiner article on PREformances and hear Allison Charney sing here.

The Basser Research Center for BRCA at Penn Focuses on BRCA1 and BRCA2

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 for BRCA 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 for BRCA will contribute to all stages of research and clinical care relevant to BRCA-related cancers.

The breast cancer program at Penn's Abramson Cancer Center helps you understand your options. Learn the facts and request a consultation today.

Focus On Cancer Year in Review: The Basser Research Center

2012 was an exciting year for the Abramson Cancer Center. We are featuring blogs featured on the Focus On Cancer blog that highlight cancer treatment breakthroughs, coping tips and ideas, education and inspiration. Today, we are highlighting the Basser Research Center for BRCA.

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.

Basser Research Center for BRCA 1 and 2


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.

Cancer Information From a Reliable Source

Thank you for a fantastic 2012. The Focus On Cancer blog is committed to provide people with cancer and their caregivers educated information from a reliable source, the Abramson Cancer Center at Penn Medicine. Please subscribe to our blog to get updates about new cancer treatments at Penn, credible information from cancer experts at Penn, and inspiration from other people with cancer.

Does Insurance Cover BRCA Genetic Testing?


Last week’s op-ed piece by Angelina Jolie has brought to the forefront BRCA testing, and choices women make regarding their BRCA status and preventative measures against breast and ovarian cancer.

It also raises the question: Is BRCA testing only for men and women who are of means? Who can afford genetic testing for BRCA?

Is BRCA testing covered by insurance?

BRCA testing is usually covered by insurance if the patient meets certain criteria. There are different types of BRCA testing, ranging in cost from $475 to $4000. Genetic counselors are helpful in determining what type of testing is indicated. Testing is less expensive once a mutation has been identified within a family.

Insurance coverage and criteria varies by insurance plan, and genetic counselors are excellent at determining whether insurance is likely to cover the testing. Insurances more readily cover testing of people with a personal history of cancer and ideally, testing in a family starts in an individual who has had a BRCA-related cancer at a young age.

This first person to undergo testing in the family has complete sequencing of both the BRCA1 and BRCA2 genes. This costs about $3300 and if no mutation is found, an additional $700 test looking even more closely at both genes may be necessary. For individuals of Jewish ancestry, a simpler test can often be performed that looks at just the common BRCA mutations within that population, for a cost of $575. Lastly, once an individual in a family test positive, other family members typically only require testing for a single mutation which is a simpler test that costs about $475.

There are also options for individuals who lack insurance coverage of genetic testing. Uninsured individuals may be eligible for free testing via the laboratory. Under-insured individuals can apply for financial assistance through an organization called Cancer1Source and depending on where they are tested, may have access to institutional earmarked charity funds.

Another insurance question that often arises is whether a positive result will make it harder for an individual to get health insurance. Legislation passed in 2008 bars discrimination based on genetic test results for the majority of health insurance companies and plans. This legislation extends to protect people from discrimination based on genetic test results in the realm of employment. It is important to note that no such protections are in place for things like life and long-term disability insurance, so some consider putting these in place before testing is performed.

Learn more about BRCA testing at the Basser Research Center for BRCA.

Bloomberg, Philly.com, 6ABC turn to Basser for BRCA Information

The Basser Center for BRCA Research and executive director Susan Domchek, MD made headlines this week as major news outlets turned to Penn Medicine for an expert opinion. Read the headlines and quotes below:

Bloomberg News quoted Susan Domchek, MD, executive director of the Basser Research Center for BRCA in article on Jolie’s decision:

Jolie Mastectomy Fuels Debate on Breast Cancer Treatment
Those two paths, each with risks and benefits, can leave patients confused and conflicted over how best to protect themselves, said Susan Domchek, a breast cancer researcher and director of the Basser Research Center at the University of Pennsylvania. Jolie said she chose to have a double mastectomy after learning she had the genetic mutation that increased her risk for cancer, which killed her mother. Read more at Bloomberg here.


Domchek was also quoted in a Philadelphia Inquirer piece on Angelina Jolie’s op-ed on carrying a BRCA1mutation and opting for a double mastectomy:

Jolie’s Difficult Medical Decision Wins Praise

"It's not the magic solution," Domchek said. "But it's a compelling example of how, if you know the biology of the cancer, you can use it." Read more at Philly.com here.


6 ABC also quoted the Basser executive director in an article about Jolie’s decision to get preventive mastectomies:

Understanding Angelina Jolie’s Decision

Dr. Susan Domchek of the University of Pennsylvania's Basser Research Center for BRCA, says easy access to information, and a wider range of reconstruction options figure are factors in the rise. Read more at 6 ABC here.




For the latest information on BRCA research, 
screening and clinical trials from 
The Basser Research Center for BRCA,
visit the official webpage.

Basser in the New York Times: Jolie’s Disclosure of Preventive Mastectomy Highlights Dilemma



Susan Domchek, MD, executive director of the Basser Research Center for BRCA is quoted in a New York Times article on Jolie’s decision:

"It is generally considered safe to wait long enough to have children before having the ovaries removed, but the operation should be done by age 40," said Dr. Susan M. Domchek, an expert on cancer genetics at the University of Pennsylvania and the executive director of its Basser Research Center, which specializes in BRCA mutations.

We invite you to read the article in full at the
New York Times here, and for more of the latest information on BRCA research, testing and more

visit the official Basser webpage.

The Angelina Effect (Video)

"The genes that you're born with don't change over the course of your lifetime, however, genetic testing techniques [does]..."

Susan Domchek, MD executive director of the Basser Research Center for BRCA in the Abramson Cancer Center, was interviewed on MSNBC about the news that actress Angelina Jolie carries the harmful BRCA 1 mutation, which led her to undergo a prophylactic mastectomy to reduce her risk of developing breast cancer.



Visit NBCNews.com for breaking news, world news, and news about the economy





For the latest information on BRCA research, 
screening and clinical trials from 
The Basser Research Center for BRCA,
visit the official webpage.

Basser Quoted on Marie Claire and MedCityNews for BRCA Expertise

The Basser Center for BRCA Research's executive director Susan Domchek, MD and Abramson Cancer Center genetic counselor Jacquelyn Powers made headlines this week as major news outlets turned to Penn Medicine for an expert opinion. Read the headlines and quotes below: 

Marie Claire interviewed Domchek for an article about BRCA and Jolie’s decision:

Angelina Jolie: I had a double mastectomy

"We know from our research that having a prophylactic (preventative) mastectomy is the most effective way to for women who carry BRCA1/2 mutations to reduce their risk of developing breast cancer, but that surgery does come with costs, especially around body image, which is understandably an important factor for women," says Domchek "That's why we're working to develop other ways to prevent cancer in these high-risk women — like vaccines and new medications — so that women someday have new, less invasive options." Read more at Marie Claire here.
Jacquelyn Powers was the go-to source for MedCityNews piece on Angelina Jolie’s decision to follow up her BRCA1 screening with a double mastectomy: Is Angelina Jolie’s Surgery a Logical Response to Genetic Test Results?
“I would say what is our gold standard is what’s in the family’s personal history that sets us down a certain path,” said Powers. “Women are more inclined to choose preventive surgery if they have lost someone close to them — that’s a big factor.” Read more at MedcityNews.com here.


For the latest information on BRCA research, 
screening and clinical trials from 
The Basser Research Center for BRCA,
visit the official webpage.

Would You Shield Your Future Child From Cancer?

Of course we all would, if it were always straight forward. This is the title question of a recent Wall Street Journal Health segment online. Based on WSJ reporter Bonnie Rochman’s article on a family who used reproductive technology to avoid passing on a BRCA mutation to their children, the segment explores the issue of pre-implantation genetic diagnosis for hereditary breast and ovarian cancer caused by mutations in BRCA1 and BRCA2.

BRCA1 and BRCA2 mutations are associated with greatly increased risks for breast and ovarian cancer; as well as moderately increased risk for prostate, melanoma, male breast, and pancreatic cancers.

What is Embryo Screening or Pre-implantation Genetic Diagnosis (PGD)?

Pre-implantation Genetic Diagnosis (PGD) is a special form of in-vitro fertilization (IVF). This can be an option for individuals who carry a known genetic condition and wish to greatly decrease the chances of passing it on to a child. PGD is also known as "embryo screening" and is performed in a laboratory. This procedure is used in combination with IVF to test embryos (fertilized eggs) for a specific genetic mutation, such as a BRCA1 and BRCA2 gene mutation.

The testing is performed before transferring the embryo into the woman's womb. Only the embryos that test negative for the known mutation will be transferred. As the Wall Street Journal highlights, PGD for BRCA1 and BRCA2 and other diseases is a very personal decision and can be seen by many as controversial. Even the couple Rochman initially followed had different perspectives on using the technology.

BRCA Gene Mutation and Reproduction

The Basser Research Center for BRCA is actively researching the impact of BRCA1 and BRCA2 mutations on reproductive attitudes and behaviors. Basser researcher Clarisa R. Gracia, MD, MSCE is investigating the impact of carrying a BRCA mutation on fertility and reproductive decision-making.

“PGD is an option, so we tell patients about it,” says Rebecca Mueller, MS, CGC, CCRC, outreach coordinator for the Basser Center with a strong background in genetic counseling. “But it is a tentative conversation: We broach the topic, explain the option and let the patient take the lead. Some welcome the information and consider it an opportunity to end the pattern of cancer risk within their family. Others say that they or their kids may not be here had the testing been available and the conversation may end there.”

The Basser Research Center for BRCA aims to educate individuals who carry BRCA mutations about their options across the board. “Whether we are talking about genetic testing, cancer screening, prophylactic measures, treatment choices, or reproductive decisions, it is our goal to provide information and support to families facing BRCA” says Basser Center Director, Susan Domchek, MD.

Watch the Wall Street Journal piece online, 
and visit Basser.org for the latest in BRCA news, education and research.

Miss America Contestant Plans Double Mastectomy

Miss America contestant Allyn Rose plans to undergo a double mastectomy now that her participation in the 2013 Miss America competition is over. The 24-year-old says her mother battled breast cancer as a 27-year-old, and then again at 47. Her mother eventually died from breast cancer, as did her grandmother and aunt. Rose’s story highlights the challenge that women face in considering hereditary cancer risk.

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.”

Cancer Genetic Counseling at Penn

Cancer genetic counseling is an extremely important step in defining one’s cancer risk and considering interventions to address it. Genetic counseling with genetic counselors can help people who are concerned about their family history of cancer by

  • Determining if genetic testing is appropriate for a family
  • Interpreting genetic test results, since mutations in different cancer genes confer different risks
  • Estimating cancer risks based on family history if no gene mutations can be identified

If a gene mutation is identified in a family, then family members can undergo genetic testing for that mutation to learn if they have inherited the increased cancer risk or not. For example, a mother with a BRCA1 mutation has a 50% chance of passing it on to each child. Despite the family history, individuals who do not inherit the mutation are typically at average risk for cancer.

Genetic counselors can also provide information on cancer risk by decade of life, information that can help women decide not just if but when to consider prophylactic surgery or other measures to manage cancer risk. For example, women with mutations in BRCA1 or BRCA2 have up to a 70 to 80% lifetime risk of breast cancer, but the risk for a BRCA carrier in her 20s to develop breast cancer by age 30 is about 1 to 2%.

Penn Medicine’s Cancer Risk Evaluation Program provides consultation with certified genetic counselors and medical oncologists. The Basser Research Center for BRCA within Penn’s Abramson Cancer Center was founded in May of 2012 to promote research on the BRCA1 and BRCA2 genes harmful forms of which cause hereditary breast and ovarian cancer syndrome.

Learn more about BRCA and hereditary cancer risk at Penn.

Direct to Consumer Genetic Testing: What’s all the Fuss?

A mother testing her adopted child’s genome...

A young woman learning from a spit-and-send test that she is at markedly increased risk for breast and ovarian cancer...

A reporter who sends samples to multiple direct-to-consumer genomics companies, each with unique and variable results...

These are just a few of the stories to surface around the recent warning letter sent by the US Food and Drug Administration to a Direct-to-Consumer (DTC) genomics testing company.

The warning letter stated that the company had not provided adequate evidence that the Personal Genome Service provides accurate assessment of disease risk. This news and related stories have popularized discussions that have been taking place within the walls of genetic medicine for quite some time.

“The variability of results from DTC testing is not exactly a new finding,” says Susan Domchek, MD, executive director of Penn Medicine’s Basser Research Center for BRCA. “Starting around 2010, researchers have illustrated similar discrepancies by sending batches of samples to DTC companies and publishing the results. It is widely understood that each lab looks for slightly different genetic markers and may interpret the same data differently.”

What is direct-to-consumer genetic testing? What do the tests look for? What are the risks and benefits to this type of testing?

Basser Center genetic counselor Rebecca Mueller MS, CGC, CCRC explains.

Q: What is direct-to-consumer genetic testing?

Direct-to-consumer- or DTC- genetic testing is genetic testing that is arranged directly between a consumer and a company with no medical professional intermediary. Most of the companies provide saliva sample kits that are mailed in for genetic testing at a company laboratory.

Q: What conditions do DTC tests look for?

DTC tests have been marketed to test for everything from ancestry, to carrier status for recessive conditions, to disease risk, to paternity. Currently, the FDA is concerned about DTC testing for disease risk. These genetic tests for disease risk typically look at what we call SNPs or Single Nucleotide Polymorphisms.

Q: What exactly are Single Nucleotide Polymorphisms (SNPs)?

These are small differences in the genome at specific places in the genetic code that are commonly found in people. Through studies of large samples of individuals, scientists have identified many, many SNPs that increase or decrease risk for different diseases within certain populations.

Q: Why do reported disease risks vary depending on the company doing testing?

Many things contribute to disease risk—not just genetics.  While we know that genetic variation contributes to disease risk, there are several reasons why results vary by laboratory.

First, many SNPs typically contribute to risk of any given disease and different laboratories may look at different SNPs.

Second, even if two laboratories are looking at the same SNP they may interpret results differently for a variety of reasons. For example, they may have different data about the baseline or average risk for a given disease in a particular population, and the increase or decrease in risk is based off of that data.

Regardless of what the genetic reports say, there are a few more things to consider: We have yet to define all the genetic variations that contribute to disease risks, so every test has important limitations. We also know that there are many non-genetic factors that affect disease risks significantly, so even a hypothetically perfect genetic test would have limitations. For example, you can lack genetic risk factors for obesity but still be obese.

Q: Are DTC companies doing BRCA testing?

It is important to understand that most DTC companies do not comprehensively sequence genes, meaning they cannot rule out the presence of a mutation with the same precision as the laboratories used in medical settings. For example, one company tested people’s samples for three specific mutations within the BRCA1 and BRCA2 genes that are commonly found in the Ashkenazi Jewish population, but the company did not provide comprehensive genetic testing (also called full sequencing) of the BRCA genes. Individuals might think they had negative BRCA1/2 testing, when in fact they had very limited testing that is insufficient for ruling out a BRCA mutation.

Q: Are SNP test results medically useful?

Many things contribute to risk for any given disease. Currently, family history and personal medical history and exposures are the best way to assess risk for many types of cancer. In some individuals, genetic testing of certain genes (not SNPs, but entire genes such as BRCA1 and BRCA2 and genes for hereditary colon cancer) can be very useful. These tests can be ordered by medical providers when indicated to shed more light on inherited cancer risk. Comprehensive testing of these genes is not available through DTC companies.

Interested in learning more? 
Genetic counselors at the Marian and Robert MacDonald Women’s Cancer Risk Evaluation Program and the Division of Translational Medicine and Human Genetics provide risk assessment and genetic testing for a variety of conditions.

I Got All My Sisters With Me

Jane E. Herman, a BRCA2 mutation carrier volunteers as an Outreach Coordinator for FORCE: Facing our Risk of Cancer Empowered in New York City and blogs regularly about her BRCA journey and other slices of her life at JanetheWriter Writes… 

Looking forward to the 8th Annual Joining FORCEs Conference in Philadelphia, June 12-14, Jane reflects on her time in college and a recent patient education and support conference:

A generation ago at this season, I attended a number of sorority semi-formals at my alma mater. At the time, the school [had an active Greek life on campus]. Invariably, each of these spring events--no matter the sorority--closed with the DJ "spinning" Sister Sledge's "We Are Family" as all the young women gathered on the dance floor, linking arms and singing along as a gaggle of young men watched from the sidelines.

I was reminded of this scene last Wednesday evening at FORCE's NYC Spring Celebration 2014: Live Life Empowered.

The organization's inaugural benefit event featured two of my BRCA sisters, Stacey Sager and Kara DiGuardio in a joyful celebration of the organization that is the unequivocal voice of the hereditary breast and ovarian cancer (HBOC) community.

In addition to providing resources, education, and support to individuals and families at risk for hereditary cancer, FORCE advocates on our behalf within the medical, pharmaceutical, and policy arenas.

This helps to ensure that we don't encounter discrimination, insurance snafus, or other obstacles as we--individually and collectively--deal with the inevitable roller coaster ride that comes along with our attempts to ensure, to the extent possible, that our genetics don't dictate our destiny.

If you are looking for BRCA family, join Penn Medicine’s Basser Research Center for BRCA and FORCE at the 8th Annual Joining FORCEs Conference in Philadelphia, June 12-14.
Read about the rest of Jane’s evening at the FORCE celebration in New York City.



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.

BRCA Beat: 2014 Winter Issue

Herbert and Betty Adelman, supporters of the Basser Research Center for BRCA
Happy New Year from the Basser Research Center for BRCA.

Basser's quarterly e-newsletter reports on donors Herbert and Betty Adelman, the latest in BRCA research, the announcement of the Basser External Research Grant, upcoming BRCA educational events, and other important center updates:

Herbert and Betty Adelman live in Virginia and first read about the Basser Research Center for BRCA in the New York Times. A 1952 graduate of the Wharton School and part of a family personally affected by the BRCA gene, Herbert and his wife Betty decided to come to Penn to learn more about the Center’s vision and research goals...


Read the whole Winter 2014 edition here:
BRCA beat eNewsletter

New York Times article on Universal Screening for BRCA1/2 cites the Basser Research Center’s Jewish Outreach Campaign

Jewish Ashkenazi Outreach Program buttonJewish Ashkenazi Outreach Program buttonJewish Ashkenazi Outreach Program buttonJewish Ashkenazi Outreach Program Jewish Ashkenazi Outreach Program buttonBRCA mutations are much more common in individuals of Ashkenazi Jewish ancestry, making population screening worth consideration.

New York Times correspondent Roni Caryn Rabin reports on the issues associated with universal screening for BRCA mutations in Israel, noting the Basser Research Center for BRCA’s efforts to raise awareness of BRCA1/2 via a poster campaign in American synagogues.

The Basser Research Center for BRCA at Penn Focuses on BRCA1 and BRCA2

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 for BRCA 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 for BRCA will contribute to all stages of research and clinical care relevant to BRCA-related cancers.