Accentuate the Positive: Eva Moon at the Joining FORCEs Conference

More than 700 individuals facing hereditary breast and ovarian cancer gathered at the Philadelphia Marriott for the 2014 Joining FORCEs Conference held by Facing Our Risk of Cancer Empowered in partnership with Penn Medicine’s Basser Research Center for BRCA.

As the Philadelphia Inquirer reports, performer Eva Moon spoke at the 2014 joining FORCEs Conference last month, integrating humor with the otherwise serious topic of hereditary cancer.

Hereditary breast and ovarian cancer is often caused by mutations in the BRCA1 and BRCA2 genes, which increase risk for breast, ovarian and other cancers.

Moon, who carries a BRCA1 mutation, uses humor as a method to cope with tough times. She performs a one-woman musical about her journey with hereditary breast and ovarian cancer.

At the conference, Moon shared her personal story, tips for finding humor in daily life, and engaged the audience with a number of songs and activities.

"I cried rivers of tears," she said. But she fought back and underwent a series of major preventative surgeries. Post-recovery, Moon harnesses humor for coping with hard times, and she is teaching others to do the same.

"Humor can relieve stress and speed healing," she said.

Read the Philadelphia Inquirer coverage of Eva Moon's session online.

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Penn's Basser Research Center for BRCA Presents at ASCO 2014

Early this summer, oncologists from around the world gathered to hear cutting-edge scientific presentations showcasing new findings in oncology at the American Society of Clinical Oncology. Investigators from Penn Medicine’s Basser Research Center for BRCA presented on a range of topics related to hereditary breast and ovarian cancer. 

Multiplex Testing

Katherine L. Nathanson, MD, presented on 'multiplex testing" for hereditary cancer risk. Historically, individuals with family histories of cancer were told about the individual genes that may be at the root the family’s history of cancer.

For example, a 40-year-old woman with breast cancer whose paternal grandmother also had the disease might be advised to consider BRCA1 and BRCA2 testing. Similarly, a 25-year-old woman with breast cancer might be offered testing for BRCA1 and BRCA2 but also a gene called TP53 associated with much younger breast cancers.

Now, in 2014, multiplex or “panel” testing allows a healthcare provider to offer individuals testing for genes which have a predisposition to cancer all at once. This commercially available test has brought opportunities and challenges to the world of cancer genetics for patients and providers alike. ASCO 2014 highlighted the divergent opinions on the new technology.

To learn more:

• Watch Kate Nathanson, MD, discuss her gene panel abstract in an interview with MedPageToday.
• Read coverage in an article on HemOnc Today
• Listen to Basser staff Susan Domchek, MD, Kara Maxwell, MD, PhD, and Katherine Nathanson, MD, on WHYY Radio

Breast Cancer Worry in Teens

Families with BRCA mutations or unrelated histories of breast cancer often wonder how this history can impact their girls as they grow into young adults.

Basser Investigator, Angela Bradbury, MD, has devoted her career to studying these issues and discusses her abstract on worry and behavior among teens at higher risk for breast cancer.

To learn more:

• Angela Bradbury, MD, speaks with WHYY Radio 
• Read the Penn Medicine press release
• Angela Bradbury, MD, comments on incidental findings from genetic testing here

Side Effects of Risk-Reducing Salpingo Oophorectomy

For women who carry BRCA mutations, in is standard practice to discuss preventative removal of the ovaries and fallopian tubes between ages 35 to 40 or after child-bearing is complete.

These discussions inevitably lead to concerns about the potential impact of the procedure, which is called risk-reducing salpingo oophorectomy.

To learn more about Susan Domchek MD's research, you can read her interview with MedPage Today or see the Penn Medicine News Release.

For hereditary breast and ovarian cancer information, support, and research opportunities, visit Basser.org

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A Pub, A Drug, and A Basser Global Prize Winner

“I met a bloke in a pub and he offered me some drugs,” explains Alan Ashworth, FRS in his keynote address at the Basser Research Center for BRCA’s second annual symposium, where Ashworth received the Basser Global Prize for his contributions to BRCA-related research.

It turns out the bloke was a DNA-repair researcher and the drug was Olaparib. Olaparbib is a PARP inhibitor, part of a class of experimental medications that have been developed to target the genetic defect present in cancers associated with heritable BRCA mutations. Penn Medicine’s Basser Research Center for BRCA focuses exclusively on BRCA1 and BRCA2, and PARP inhibitors were a hot topic at this year’s symposium, which over 200 healthcare providers and scientists attended.

Ashworth Accepts the Basser Global Prize

In his acceptance speech for the Basser Global Prize, Ashworth described the history of the field, sketching out how the BRCA genes were cloned and detailing how an evolving understanding of basic biology led to the development of so-called targeted therapies that exploit the inherent deficiencies of BRCA-related cancers.

As he spoke about the BRCA genes and proteins, Ashworth pointed key parts of the protein apparent in the actual Basser Global Prize trophy, which features a blown-up version of part of BRCA2, etched into a large crystal block atop a purple LED light that made the prize glow as Shari and Len Potter presented it to him.

Symposium and Basic Science Research Bring Hope for the Future

In addition to targeted therapies for BRCA-related cancers, the symposium shed light on the basic science research that is so crucial to developing new targets for early detection and therapy, as well as clinical issues of tumor sequencing, breast cancer screening, and breast reconstruction.

With hope for approval of PARP therapy, increasingly accessible sequencing technologies, and the landmark founding of the Basser Research Center for BRCA, the conference had a hopeful air, with Ashworth commenting that “the Basser Center is a fantastic new initiative…I believe there is going to be great discoveries made here, along with colleagues around the world, [resulting in] huge contributions to BRCA1 and BRCA2 research…”

For more, see the photo album on Facebook or watch below Basser Global Prize Winner Alan Ashworth, Basser Director of Genetics Kate Nathanson, and Basser Director of Basic Science Roger Greenberg recap key themes from the Basser Center’s Second Annual Symposium on Breast and Ovarian Cancer Genetics.

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BRCA Beat: 2014 Spring/Summer Issue

As Spring sets in, Basser's quarterly e-newsletter reports on the annual Basser Center Scientific Symposium, Research Updates, Upcoming Events and highlights Partner in Hope Shari Basser Potter, whose generous gift funds the Basser Global Prize:

When the Basser Research Center for BRCA was established in 2012, in honor of [her sister] Faith, Penn alumna Shari, and her husband Len made an extraordinary gift to launch a global effort. The Potters' gift funds an international scientist through the Basser Global Prize, which honors a visionary researcher who has made a significant impact on advancing BRCA1/2-related research.

The inaugural Basser Global Prize was awarded to Professor Alan Ashworth, FRS from the Institute for Cancer Research in the United Kingdom, at this year’s Basser Center Scientific Symposium. The second annual symposium was held at Penn on May 6 & 7 and educated over 250 scientists, physicians, genetic counselors, nurses and health care providers on the latest advances in BRCA1 and BRCA2 research and patient care.

Read the whole 2014 Spring/Summer edition here:
BRCA beat eNewsletter

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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.

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Penn Study Reveals Breastfeeding, Birth Control Pills May Reduce Ovarian Cancer Risk Among BRCA Carriers

Research has shown that women carrying BRCA mutations are at increased risk for ovarian cancer, with a 10-45% risk of developing the disease over the course of their lifetimes compared to the average 1-2% chance.

As a result, both BRCA carriers and their health care providers frequently ask about other factors that may impact ovarian cancer risk for the already high risk population.

"Heredity is Not Destiny"

Towards that end, a group of researchers at Penn's Basser Research Center for BRCA investigated factors that may impact or modify ovarian cancer risk in BRCA carriers.

In their meta-analysis of 44 peer-reviewed articles, Penn researchers found that breastfeeding, tubal ligation- also known as having one's "tubes tied," and oral contraceptive use may all lower the risk of ovarian cancer for some women with BRCA mutations.

Lead author and Basser-funded investigator, Timothy R. Rebbeck, PhD explains that "our analysis reveals that heredity is not destiny, and that working with their physicians and counselors, women with BRCA mutations can take proactive steps that may reduce their risk of being diagnosed with ovarian cancer."

Susan Domchek, MD, executive director of the Basser Research Center for BRCA and co-author on the new paper adds, “It’s imperative that we continue examining and building upon past research in this area so that we can provide BRCA mutation carriers with options at every age, and at every stage of their lives.”

Read the full Penn Medicine press release online for further information.

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Twenty Years Later: How Breast Cancer Risk Genes are Changing Patient Care

BRCA1 and BRCA2, the genes implicated in hereditary breast and ovarian cancer, have become common parlance, especially since Angela Jolie’s May 2013 disclosure of her genetic mutation and subsequent mastectomy. This has not always been the case - just twenty years ago, these genes were being discovered.

In a “Perspective” article featured in Science Magazine, Dr. Katherine L. Nathanson, MD, Director of Genetics and a funded investigator at the Basser Research Center for BRCA, explains how far we have come in respect to genetic assessment of risk for breast cancer.

“A woman’s risk of breast cancer is still very much tied to family history, but it’s not just about their mother or grandmother; it’s about their father and his family history, too, and the population groups an individual’s family belongs to,” said Dr. Nathanson.

"Twenty years of research has provided a lot more information about these risk factors, which helps us to more effectively counsel patients about their own cancer risk and possible preventative strategies.”

Read about the past, present and furture of BRCA research in a Penn Medicine Press Release covering Dr. Nathanson’s article.

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The Basser Center’s Homologous Hope in Times Square

“DNA Comes Alive in Penn Medicine’s Basser Research Center for BRCA” reads a video billboard in a glittering Times Square, alerting New Yorkers to the exciting unveiling of the Homologous Hope Sculpture at the Basser Center.

Focusing on hereditary forms of cancer caused by mutations in the BRCA1 and BRCA2 genes, the Basser Center now welcomes visitors with a nearly one-ton sculpture, replete with LED lights that glow through the glass walls of the Perelman Center for Advanced Medicine late into the night.

Modeled to resemble a portion of the BRCA2 protein responsible for the all-important function of DNA-repair that helps the body stop the development of cancers, an image of the sculpture lit up Times Square, pictured above.

Read more about the installation celebration, the artist behind the sculpture, and view photos from the event.

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AP Quotes Basser Center Director Susan Domchek on Recent Oophorectomy Article

A recent article published in the Journal of Clinical Oncology confirmed the importance of oophorectomy for BRCA carriers and suggested a need for early oophorectomy for women with mutations in BRCA1, one of two genes known to greatly increase risk for breast and ovarian cancer. The article’s take-home message was that women with BRCA mutations benefit from risk-reducing oophorectomy, which confirms earlier published findings.

This article suggested that BRCA1 mutation carriers should have their ovaries removed by age 35, while current guidelines indicate ovaries should be removed by age 35 to 40 for carriers of both BRCA1 and BRCA2.

In a recent Associated Press article, Susan Domchek, MD, director of Penn’s Basser Research Center for BRCA weighed in on the recent findings, stating the importance of weighing the ovarian cancer risk and option of risk-reducing surgery alongside other decisions in a woman’s life:

“Thirty-five isn’t necessarily a magic number,” Domchek said. “If you are talking to a woman who hasn’t yet finished having her kids, it’s a completely reasonable thing to discuss the low risk of ovarian cancer by age 40 in the context of the other decisions that she’s making in her life.” 

However, Dr. Domchek adds her message for BRCA1 carriers: “By age 40, I will be nagging you about this again.”

Read the AP article, and visit Basser.org for more on BRCA screening, support and education.

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New Art Installation Illustrates DNA Repair and Celebrates Hope for Patients and Families Carrying BRCA Mutations

Penn Medicine’s Basser Research Center for BRCA recently unveiled a sculpture that symbolizes the hope that the Basser Center brings to individuals and families affected by mutations in the BRCA1 and BRCA2 genes.

Created in a ribbon-diagram formation, the sculpture illustrates how a healthy cell repairs DNA that causes breast, ovarian and pancreatic cancers. It is an accurate depiction of the part of the BRCA2 gene responsible for DNA repair. The repair occurs in three stages, as illustrated by a light show within portions of the piece. Weighing more than 500 pounds, the sculpture has 600 LED lights and is suspended from a ring weighing nearly 400 pounds.

Read more about the installation celebration, the artist behind the sculpture, and view photos from the event.

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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.

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Basser Center Director quoted in Marketplace

Basser Research Center for BRCA Director Susan Domchek, MD was quoted in a recent Marketplace report on drug shortages. Dan Gorenstein reports on shortages in the supply of drugs for cancer and other conditions, quoting Dr. Domchek who says that this lack of medication puts patients at risk.

“It is a very difficult thing to explain to a patient, why you can’t get a very standard chemotherapy regimen because you don’t have access to the medication,” she says.

Listen to the full Marketplace piece here, with quotes from Dr. Domchek, and learn more about the Basser Research Center for BRCA at Basser.org

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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

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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.

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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.

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

BRCA 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.

Click here to read the full New York Times piece on BRCA in the Ashkenazi Jewish Community.

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Dr. Susan Domchek, Basser Research Center for BRCA weighs in on BRCA Screening in the New York Times

The Basser Research Center for BRCA’s Dr. Susan Domchek weighs in on a BRCA question and answer session for the New York Times article on BRCA screening in Israel.

BRCA mutations are more common in individuals of Ashkenazi Jewish ancestry, and carriers have increased risks for a variety of cancers, mainly breast and ovarian.

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.

Click here to read the full New York Times Q&A with Dr. Domchek about this important issue.

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Genetic Markers for Breast Cancer Can Be Passed Down On Father's Side

NBC News quotes the Basser Research Center for BRCA Director Dr. Susan Domchek in this piece on paternal transmission of hereditary breast and ovarian cancer risk. Breast Cancer Awareness month is an excellent time to gather your family history of cancer—on both mom and dad’s side-- and gain genetic counseling to determine if you may benefit from genetic testing and are at increased risk.

Read Sarah Lien’s story and watch the videos from NBC News 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.

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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.

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Penn's Basser Research Center for BRCA Names UK Breast Cancer Researcher Alan Ashworth Winner of First Annual Basser Global Prize

The Basser Research Center for BRCA has announced the recipient of its first annual Basser Global Prize. The honor will go to cancer biology and genetics expert Alan Ashworth, FRS, 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.

The Basser Global Prize, a marquee component of the Basser Research Center for BRCA, was established by Shari Basser Potter and Leonard Potter to honor a visionary scientist who has conceptually advanced BRCA1 and BRCA2 related research that has led to improvements in clinical care.

Professor Ashworth’s laboratory focuses on using genetic principles to understand cancer biology and channel the findings into information to change the way patients are treated. His lab has been instrumental in the development of PARP inhibitor therapy, medications that are designed to target the genetic vulnerability of BRCA1- and BRCA2-related cancers.

Read more about Professor Ashworth's work in a Penn Medicine Announcement here.

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