<img loading="lazy" decoding="async" class="alignright size-medium wp-image-3837" title="DNA code analysis" src="https://blog-api.23andme.com/wp-content/uploads/2009/06/atcg-300x199.jpg" alt="" width="300" height="199" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/06/atcg-300x199.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2009/06/atcg.jpg 425w" sizes="auto, (max-width: 300px) 100vw, 300px" />
The term “sarcoma” encompasses over a hundred forms of rare cancers, and the cause behind many of these forms is unknown.
<h6>More on Ewing Sarcoma</h6>
Ewing sarcoma, however, is one sarcoma for which the biology is relatively well understood.
This form is caused by a gene fusion &#8212; a DNA rearrangement resulting in two genes being fused together.  In the case of Ewing sarcoma, the fused genes are EWSR1 on chromosome 22 and typically FLI1 on chromosome 11. Although not much is known about risk factors for Ewing sarcoma, a <a href="https://blog.23andme.com/articles/ewing-sarcoma" target="_" rel="noopener">recent study</a> identified genetic variants associated with higher risk for the condition.
Now, a team of French researchers has uncovered the underlying cause of a new type of sarcoma: a different gene fusion.
<h6>New Research Findings</h6>
In this new study published in <a href="https://www.nature.com/ng/journal/v44/n4/full/ng.1107.html">Nature Genetics</a>, the team led by Olivier Delattre and GaÃ«lle Pierron studied tumors similar to Ewing sarcoma but lacking the EWSR1-FLI1 gene fusion, focusing primarily on bone sarcomas affecting adolescents and young adults. Altogether the researchers examined almost six hundred tumor samples and discovered that twenty-four of these tumors had identical genetic rearrangements &#8212; but a different one than that associated with Ewing sarcoma. This newly-discovered subtype of sarcoma results from a gene fusion between the BCOR and CCNB3 genes, both of which are located on the X chromosome.
<div style="border: 1px solid #000; padding: 10px; font-style: italic; margin-bottom: 15px; width: 200px; float: right; margin-left: 15px;"><img loading="lazy" decoding="async" class="alignleft size-full wp-image-12163" style="float: left; margin-right: 15px;" title="small_23andMe_logo" src="https://blog-api.23andme.com/wp-content/uploads/2012/04/JRBgdIBXKIeVIdETJrxYIw_ttam_logo.jpg" alt="" width="24" height="40" />You can help! If you&#8217;ve been diagnosed with any type of sarcoma, <a href="https://www.23andme.com/sarcoma">join 23andMe&#8217;s Sarcoma Research Community today</a>. Even if you don&#8217;t have sarcoma, you can still contribute to research by <a href="https://www.23andme.com/store">becoming a 23andMe customer</a> and answering surveys.</div>
The two genes involved in this new type of sarcoma both have important biological roles. The BCOR gene encodes a protein that regulates the activity of genes (specifically, genes within a type of stem cell found in bone marrow). Mutations in the BCOR gene can result in serious diseases, such as <a href="http://ghr.nlm.nih.gov/condition/oculofaciocardiodental-syndrome" target="_" rel="noopener">oculofaciocardiodental</a> and <a href="http://ghr.nlm.nih.gov/condition/lenz-microphthalmia-syndrome" target="_" rel="noopener">Lenz microphthalmia</a> syndromes. In addition, BCOR-CCNB3 is not the first documented gene fusion involving BCOR causing disease; when the BCOR gene fuses with the <a href="https://www.ncbi.nlm.nih.gov/pubmed/20807888">RARA</a> gene on chromosome 17, the result is another cancer that affects the blood and bone marrow.
<h6>CCNB3</h6>
The role of the second gene, CCNB3, is somewhat less obvious. This gene encodes a protein expressed only in the testis and is important for the formation of new sperm cells.
The researchers hypothesized that the production of this protein in cells outside of the testis was a key factor in this new type of sarcoma. Using additional experiments, they observed that increased levels of CCNB3 protein led to increased cell proliferation &#8212; a hallmark of cancer &#8212; and that out of nearly one thousand tumor samples, only tumors with the BCOR-CCNB3 gene fusion had high levels of the protein encoded by the CCNB3 gene.
Delattre and Pierron’s findings suggest that the BCOR-CCNB3 gene fusion is directly related to the development of this form of sarcoma. This type of sarcoma may also share other attributes with the better-understood Ewing sarcoma, which results from a different gene fusion. Such new knowledge will hopefully translate into better sarcoma diagnoses and, someday, better treatments.

23andMe Blog

23andMe Blog Team

Gene Fusions Point to a New Type of Sarcoma

On a recent visit to 23andMe George Demetri –a physician and scientist who is an unpaid advisor to our<a href="https://www.23andme.com/sarcoma/"> Sarcoma research initiative</a> – sat down for a short interview after talking to our team. 
Demetri, who is also the director of the Dana-Farber Center for Sarcoma and Bone Oncology, said he has a lot to be optimistic about in the study of sarcoma. Individually, these are rare kinds of cancers that affect bone, cartilage, muscle, and other soft connective tissue in the body.
<img loading="lazy" decoding="async" class="alignright wp-image-11542 size-medium" title="george&amp;Anne" src="http://35.88.189.111/wp-content/uploads/2012/03/georgeAnne-300x194.jpg" alt="" width="300" height="194" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/03/georgeAnne-300x194.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/03/georgeAnne-768x496.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/03/georgeAnne-1024x661.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2012/03/georgeAnne-880x568.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2012/03/georgeAnne-1180x762.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />Dr. George Demetri and 23andMe&#8217;s CEO Anne Wojcicki
Genetics often triggers different sarcomas, but, as with most cancers, there seldom is a single cause. This makes treating sarcoma that much more difficult. Research into sarcoma, like other rare diseases, is stymied by how rare these cancers are, but Demetri’s work at the Dana-Farber Center offers much to be hopeful about. 
Demetri, who has had his share of practice-changing clinical breakthroughs, mostly notably with treating<a href="http://www.gistsupport.org/"> gastrointestinal stromal tumors</a>, is excited by some of the preliminary research 23andMe is already compiling around our Sarcoma research community. He said the model for our research platform – crowd-sourced, Internet-based, and web-driven genetic studies – is something he has long envisioned as a way to improve medical research and treatment.
23andMe: You anticipated using the Internet to connect patients to doctors and researchers long before 23andMe created its Sarcoma Community. Where did that idea come from, and how does 23andMe’s work mesh with what you’d hope to see?
Demetri: For me, the idea of using the Internet was about finding the right patients with the disease under interest because it was very clear that the tools we use to diagnose a disease are not sufficiently powerful &#8230; cancer, it’s not one disease. Sarcomas under the microscope look very different. When we started diving into the chromosomes, they were completely different. And when we started diving into the genetics, they couldn’t be more different … When you peer into that looking glass, you see a thousand different kinds of sarcomas. You run into a problem if they are only one percent of all cancers and you have 1,000 different diseases; there are not a lot of people with any one kind of those cancers … You have to do the E-Harmony trick. You have to match the right patients to the right drugs. 23andMe is the perfect tool for that. 
Nine out of ten cancer drugs we have today fail in clinical trails and that’s because nobody’s paying attention to this important matching of what’s driving the patient with the cancer to the drug that works for that cancer. To do that you need to put another filter on the traditional clinical trials methodology where you don’t just take everybody who walks in the door with a given type of cancer. Instead, you take the patients with the right kind of genetics, and you actually select for them.It’s the same kind of issue that patients have. They want their medicine personalized. And you know, we hear a lot of backlash about this in the medical community where they are saying: 
“You guys in academia talk a lot about personalized medicine. Well, I’m very personalized. I treat my patients as individuals.” 
And you know they do. They do the best they can with old technology and old diagnostics, but the truth is our technology has moved beyond that, and patients want access to it.
23andMe: What might the work on Sarcomas mean for other kinds of research?
Demetri: Sarcomas tend to be driven by one dominant pathway, where if you shut it off, the cancer gets better. GIST (gastrointestinal stromal tumors) is a great example of that. But more common cancers are probably driven by two, or maybe three, mutated pathways or different dysregulated pathways – kind of like HIV. We didn’t see people living with HIV for years, and, years, and years until we got to triple therapy. So the challenge for us now in cancer is how to identify the right molecular pathways, do the clinical trials, and, as quickly as possible, move from using a single targeted drugs to giving triple therapies.
23andMe: More than 800 people are enrolled in our Sarcoma Community and are heading to 1,000. What is the significance of having that many people with Sarcoma in a research cohort?
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-11554" title="George&amp;graph" src="https://blog-api.23andme.com/wp-content/uploads/2012/03/Georgegraph-300x200.jpg" alt="" width="300" height="200" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/03/Georgegraph-300x200.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Georgegraph-768x512.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Georgegraph-1024x683.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Georgegraph-880x587.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Georgegraph-1180x787.jpg 1180w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Demetri: In research, in general, the quality of the community and its engagement are important. It’s not just the number. But it is incredibly helpful to be able to dialogue back and forth between patients, doctors, and researchers. Patients also want to be able to reach out to other patients. What I see in this tool is that possibility. 
Having patients participate as part of the research will teach us a lot. It’s to the patient&#8217;s advantage to help us hone the data we’re collecting and to have their voices heard. Simply knowing things like, ‘How did you feel taking this drug?’ That’s important. I think patients are frustrated that the health care system doesn’t already use that kind of data, their data, in an aggregated way.
23andMe: You are an excellent combination of someone who is both very realistic and optimistic. What would you tell someone today who was just diagnosed with Sarcoma?
Demetri: Sarcoma is a scary diagnosis, but some may proceed with a nihilism that’s unwarranted. That nihilism is the first thing we’ve tried to counteract in the last decade. I think the important thing with this is today, half of all patients will be cured with conventional modalities. That’s terrific. That’s number one, and even when we have somebody who doesn’t currently have the potential of being cured, I’ve been lucky enough to be part of developing drugs that made people who thought that they maybe had only had six weeks to live to still be alive 11 years later now. That is life-changing. That is a transformational kind of research. And I’ve seen the power of that kind of research. I tell my patients I’m going to help them make decisions so that they buy as much time as possible because we never know in research when we’re going to make the next major breakthrough that will make an incurable disease curable or a fatal one into one that will be manageable.

Talking about Sarcoma with George Demetri

It’s hard to picture a more “personalized” approach to medicine than Dr. Ronald Levy’s.
Levy, chief of the oncology division at Stanford University’s School of Medicine, has spent his career finding ways to induce a person’s own immune system to fight cancer, specifically lymphoma.
<img loading="lazy" decoding="async" class="alignright wp-image-10571 size-medium" title="Ron Levy" src="http://35.88.189.111/wp-content/uploads/2011/11/Ron-Levy-287x300.jpg" alt="" width="287" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/11/Ron-Levy-287x300.jpg 287w, https://blogcms.23andme.com/wp-content/uploads/2011/11/Ron-Levy.jpg 408w" sizes="auto, (max-width: 287px) 100vw, 287px" />
Levy will be speaking early next year at the <a href="http://pmwc2012.com/index.php">Personalized Medicine World Conference 2012</a> about his work and strategies for bringing personalized medicine into the clinic. His many awards include the General Motors Kettering Prize and the American Society of Clinical Oncology Karnofsky Award, and, ion 2009, the King Faisal International Prize in medicine. He was elected to the Institute of Medicine in 2007.
In his work Levy targets the receptor molecules on the surface of cancer tumors using monoclonal antibodies that in turn induce an immune response – personalized antibodies – meant to kill the cancer.
“Each tumor is unique,” Levy said of lymphoma.
And “every person has a target that we can make an attack against.” 
His pioneering work on this kind of patient-specific therapy – and a hoped for cancer vaccine – led to the formation of the company IDEC Pharmaceuticals in 1985. 
While the company was able to develop some promising therapies the approach “wasn’t a good business model,” Levy said. 
Yet that early work led to the development of Rituximab, an antibody used in the treatment of lymphoma, which is part of the core business for the company that absorbed IDEC, Biogen Idec. According to the company, Rituximab is most prescribed treatment for non-Hodgkin&#8217;s lymphoma. 
Levy is now working to develop treatments against B-cell lymphoma and looking at promising avenues for the development of a patient-specific cancer vaccine. His lab is also using high throughput sequencing to identify mutations in pathways with hopes of also identifying drug targets and stimulating the immune system to fight the cancer. 
Levy is now working to develop other treatments against B-cell lymphoma and looking at promising avenues for the development of a patient-specific cancer vaccine. As with BRCA gene tests that are used to indicate risks for breast cancer, Levy envisions similar tests for other cancers. Knowing if a patient is at a higher risk for developing a cancer could help doctors and patients take steps immediately to try to prevent it, he said. Once cancer occurs, its genetic profile can inform the choice of which drug to use 
Although genetic tests are already being used in a limited way, Levy believes we’ve only scratched the surface. 
“Right now there are a handful of things we can test for that can make a difference for a patient,” he said. “In the future it’s not going to be a handful but a computer full.” 
Genetic work-ups are increasingly becoming common, and Levy sees the only obstacle to more universal adoption of these individual genetic work ups being their relative utility. 
“It’s limited simply by the proof of value,” he said. “Once the community sees that they work these things get adopted at lightening speed.”

A Cancer Fighter Gets Personal

<div>With Kim Barnholt</div>
<img loading="lazy" decoding="async" class="alignright wp-image-10030 size-medium" title="50-50-poster" src="http://35.88.189.111/wp-content/uploads/2011/10/50-50-poster-203x300.jpg" alt="" width="203" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/10/50-50-poster-203x300.jpg 203w, https://blogcms.23andme.com/wp-content/uploads/2011/10/50-50-poster.jpg 214w" sizes="auto, (max-width: 203px) 100vw, 203px" />
From the minute it became clear that Adam had cancer, he became a statistic, a diagnosis, a “case study”. One of the statistics he made sure to read up on were his chances of surviving. The odds &#8212; 50/50 &#8212; didn’t seem fair in the context of his life, but his friend Kyle put it into a different perspective: “Dude, if you were a casino game, you’d have the best odds!”
Thus begins Adam’s journey with neurofibrosarcoma, a rare form of spinal cancer. His friends, his family, his girlfriend &#8212; even his therapist &#8212; try to comfort him with cliches, touting the healing properties of pets, green tea, and physical touching, the latter which feels to Adam like “getting slapped by a sea otter.”
Adam also experiences a side of having cancer that can’t be found in any textbook. His chemo buddies joke that the diagnoses with the most syllables have the worst outcomes. Kyle tries to get him to use his illness to score girls, saying “it makes you different.” And, as everyone keeps telling him “you’re going to be okay,” Adam slowly, helplessly realizes that it’s a distinct possibility that he won’t be.
Through Adam’s struggles, and the struggles of those around him, we learn that cancer is anything but straightforward. It is messy and unpredictable, often ironic, turning life at once surreal and the most real that it &#8212; and its alternative &#8212; can be. And yes, it is awkward, and it can even be funny. Lost in all the numbers and textbooks and fundraising campaigns is the fact that cancer is a uniquely human experience, different for everyone, and completely incomprehensible until you come face to face with it in yourself or a loved one.
By putting a human face on cancer, “<a href="http://www.50-50themovie.com/">50/50</a>”, a new film starring Joseph Gordon-Levitt as Adam and Seth Rogen as Kyle, refuses to let it be stereotyped. There is no sugar-coating and no pretensions. The film is simply life at its most fragile and frustrating, alternately hilarious, maddening, heartbreaking, and uplifting.
At 23andMe, we think about cancer a lot. In fact, we’ve dedicated two of our first<a href="https://www.23andme.com/research" target="_blank" rel="noopener"> research initiatives</a> to<a href="https://www.23andme.com/sarcoma"> sarcoma</a> and<a href="https://www.23andme.com/mpn"> myeloproliferative neoplasms</a>, both rare forms of cancer. But even with the best intentions we can be too easily distanced from the human side of the conditions we strive to cure.
Watching “50/50” reminded us that behind every research participant is a person with a unique story and unique experiences. Seeing Adam struggle for his life, in terms of his health but also in the overall sense of regaining his humanity and normalcy, was both humbling and inspirational.
This film makes us appreciate the effort required for research participation when life is in chaos. So we thank all of our sarcoma research participants who have chosen to join us in the fight against the disease so far. Together, we can work towards better odds.
“<a href="http://www.50-50themovie.com/" target="_blank" rel="noopener">50/50</a>” is in theaters now.  Check your local listings for show times.
Learn more about sarcoma at the <a href="http://www.curesarcoma.org" target="_blank" rel="noopener">Sarcoma Foundation of America</a>, <a href="http://www.beatsarcoma.org" target="_blank" rel="noopener">Beat Sarcoma</a>, and <a href="http://www.sarcomaalliance.org" target="_blank" rel="noopener">Sarcoma Alliance</a>.
Learn more about contributing to 23andMe’s Sarcoma research initiative <a href="https://www.23andme.com/sarcoma" target="_blank" rel="noopener">here</a>.

“50/50” Shows Us the Human Side of Cancer

<img loading="lazy" decoding="async" class="alignright wp-image-6398 size-medium" title="sarcoma-large" src="http://35.88.189.111/wp-content/uploads/2010/04/sarcoma-large1-300x245.jpg" alt="Sarcoma Research logo" width="300" height="245" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/04/sarcoma-large1-300x245.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2010/04/sarcoma-large1.jpg 315w" sizes="auto, (max-width: 300px) 100vw, 300px" />
[Update: View a video recap of Sarcoma Community Night at <a href="https://www.23andme.com/sarcoma" target="_blank" rel="noopener">https://www.23andme.com/sarcoma/</a>]
Three.
That was the average number of patients enrolled in studies for sarcoma four years ago when Nathalie Criou, a sarcoma cancer survivor and founder of <a href="http://www.beatsarcoma.org/" target="_blank" rel="noopener">Beat Sarcoma</a>, looked around for new information about her disease.
Criou’s story, told at 23andMe’s headquarters for Sarcoma Community Night on a rainy Tuesday night last week, was a sobering reminder of how challenging research has been into this rare form of cancer. Earlier in the evening, Stanford oncologist and researcher Dr. Kristen Ganjoo told the audience about promising sarcoma treatments, but she also explained that even now clinical trials to approve new drugs for sarcoma routinely shut down simply because they can’t find enough people to sign up.
To the almost two dozen people affected by sarcoma gathered that night, these stories were all too familiar. Sarcoma is rare &#8212; only about 12,000 people are diagnosed with it in the United States each year &#8212; and extremely diverse, with about 50 distinct subtypes. Each type often progresses differently and can require individualized approaches to therapy, making developing effective treatments for sarcomas very difficult.
“You raise your hand and say ‘does anyone else have this?’ and no one else raises their hand,” explained Carole, who has a rare sub-type of sarcoma.
But what if there was a way to bring together sarcoma patients from far and wide and involve them in research into their disease? For Criou, an advocate and former patient, hearing about 23andMe’s <a href="https://www.23andme.com/sarcoma/" target="_blank" rel="noopener">Sarcoma research initiative</a> offered something new.
“We’re talking about a huge difference &#8212; we’re talking three [people], or 550,” Criou explained, comparing her numbers from four years ago to the current number of individuals enrolled in 23andMe’s Sarcoma research community. “And it’s 550 people that can come back, that more than one question can be sent to.” But Criou also sees this initiative having a much broader impact.
<img decoding="async" class="alignleft size-full wp-image-9387" title="beat_sarcoma" src="https://blog-api.23andme.com/wp-content/uploads/2011/07/beat_sarcoma.gif" alt="" width="215" />
“I really see this as a great platform for other rare cancers, other rare diseases, and in fact, any disease &#8212; it doesn’t have to be rare,” said Criou. “If we can show that a community like sarcoma &#8212; which is probably one of the toughest challenges from a research perspective &#8212; can use that tool&#8230; hopefully it will create a trend for sarcoma, and for other diseases.”
This is the hope for many who have joined 23andMe’s Sarcoma research initiative. While it still has a lot to prove, the initiative has brought together a community of patients who for years felt like they’d been abandoned by researchers and funders.
“When I was first diagnosed, the message I got was ‘there’s nothing anyone can do and you’re in big, big trouble,’” said Robin, a sarcoma survivor. “That was seven years ago and I’m still here. I feel really grateful, actually, that a community is pulling together to try and take a look at this.”
Even though Robin is currently sarcoma-free, she’s joining because she knows how rare sarcoma is and the challenges it presents to researchers. “If someone is willing to study us, I’m more than happy to be involved. It’s such a rare thing that there’s probably not enough money in it to have motivated people to study it in the past, and very little is known about it. I’m a survivor, and I’m here to participate and see what I can do.”
<img decoding="async" class="alignleft size-medium wp-image-9388" title="sarcoma_alliance" src="https://blog-api.23andme.com/wp-content/uploads/2011/07/sarcoma_alliance-217x300.jpg" alt="" width="120" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/07/sarcoma_alliance-217x300.jpg 217w, https://blogcms.23andme.com/wp-content/uploads/2011/07/sarcoma_alliance.jpg 225w" sizes="(max-width: 217px) 100vw, 217px" />
And the initiative doesn’t just offer hope for new research, it also allows interaction between patients and researchers. Indeed, after all of the panelists had spoken the room came alive with questions. Sometimes, the answers came not just from the expert panel, which included UCSF cancer surgeon Dr. Eric Nakakura and Arthur Beckert of the <a href="http://www.sarcomaalliance.org/main.shtml" target="_blank" rel="noopener">Sarcoma Alliance</a> in addition to Criou and Dr. Ganjoo, but from others in the audience. People asked about the latest research, gave tips on where to find clinical trials, and brainstormed creative ways to leverage this new sarcoma community.
It was perhaps this last activity that best communicated the power and potential of 23andMe’s research community. Everyone was engaged by the possibility of enabling individuals to contribute directly to research &#8212; not just once, but continuously, in an evolving, collaborative, and exploratory process.
<img decoding="async" style="margin-top: 5px;" src="https://lh5.googleusercontent.com/-j_CwEt8qQQFptWDmv1p49_soby0YSFsRKLJW1DZvGmaGeysr-uf7HkpnFiu5iJJZzhSX1VXtPgJw_jQqj2TzB1cLlmKN3KpOW1w2Ko509_Gn7pbSrE" alt="" width="298px" height="193px" />
In her comments, 23andMe co-founder and CEO Anne Wojcicki emphasized the collaborative nature of 23andMe’s research communities. “The whole purpose of 23andMe is to give everybody who has something they’re passionate about a platform, and use what’s fundamentally their own to make a difference in research and learn things about themselves that are going to be meaningful. It’s about ‘how can we all come together and do something so it’s going to change things for ourselves, or change it for our children, or others out there?’ Our goal is to really be that partnership between you and the entire research world, so we can move things forward much faster.”
Wojcicki also acknowledged the non-traditional approach 23andMe is taking. “We want to do things that are ultimately going to help researchers, but at the same time we’re definitely shaking things up a little bit!”
Sarcoma patients and survivors weren’t the only ones who appreciated this vision. As Brian, a family friend of a woman diagnosed with uterine leiomyosarcoma, put it, “you don’t have to be part of some subset or some disease &#8212; this type of research can be for everybody.”
“It’s exactly what I’ve been hoping for for ten years,” said Suzy, a 10-year leiomyosarcoma survivor. “I’m glad that there’s more community and more people coming together because there’s a lot of information to be shared. I’m hopeful that with strength in numbers, if we can get people to sign up and we can get information&#8230; for people like us, with rare cancers, this is what we need.”
To learn more about 23andMe’s Sarcoma research community or to join, please visit <a href="https://www.23andme.com/sarcoma" target="_blank" rel="noopener">https://www.23andme.com/sarcoma</a>. A video recap of Sarcoma Community Night is also available at that link.

A Recipe for Disease Research: Give People Tools, Add Passion, and Shake

<img loading="lazy" decoding="async" class="alignright size-full wp-image-6608" title="Illu_pharynx" src="https://blog-api.23andme.com/wp-content/uploads/2010/06/Illu_pharynx.jpg" alt="" width="325" height="221" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/06/Illu_pharynx.jpg 325w, https://blogcms.23andme.com/wp-content/uploads/2010/06/Illu_pharynx-300x204.jpg 300w" sizes="auto, (max-width: 325px) 100vw, 325px" />
Nasopharyngeal cancer (NPC) arises in the upper part of the throat, behind the nose.
<h6>Rare Condition</h6>
It is rare in most areas of the world–affecting only about 1 in every 100,000 people–but about 25 times more common in southern China, earning it the name &#8220;Cantonese Cancer.&#8221;   NPC rates are also high in southeastern Asia, northern Africa and the Arctic.
<h6>Risk Factors</h6>
Environmental factors play a very large role in NPC.   Smoking increases risk, as does infection with the Epstein-Barr virus.
Diets high in <a href="http://www.cancerhelp.org.uk/type/nasopharyngeal-cancer/about/nasopharyngeal-cancer-risks-and-causes#diet" target="_blank" rel="noopener noreferrer">salt cured food</a>, which are common in many of the areas where increased rates of NPC are seen, have also been shown to increase risk.   These foods can be very high in nitrates and nitrites, which react with protein to form DNA-damaging chemicals.
It&#8217;s also been known for quite some time, however, that genetics contribute to NPC susceptibility.   In 1970s, certain immune markers were associated with increased risk.
<h6>Genetic Associations</h6>
Now a large genome wide association study has revealed three more immune related areas of the genome that are associated with risk for NPC.   These results, published online this week in the journal <a href="https://dx.doi.org/10.1038/ng.601" target="_blank" rel="noopener noreferrer">Nature Genetics</a>, could eventually help develop models for prediction and screening, which in turn would help with early diagnosis.
Researchers from Singapore, China and the United States studied about 5,000 people with NPC and 5,000 controls, as well as more than 250 families, all of southern Chinese descent.
As expected, a strong genetic effect was seen in areas of the genome that encode the previously identified immune markers.   But variants in three other regions were also associated with NPC risk.   Two of these associations were statistically significant. The third SNP did not make the cut off, but was highly suggestive.
The statistically significant genetic associations variants were in the TNFRSF19 and MDS1-EVI1 genes.
<h6>Epstein-Barr Connection</h6>
Previous research has shown that these genes encode proteins that may be involved in the body&#8217;s response to Epstein-Barr virus infection, possibly providing a neat connection between the new findings and a known environmental risk factor for NPC.
The third association was with a variant near the CDKN2A and CDKN2B genes.   This gene cluster is deleted in about 40% of NPC tumors, suggesting that they are crucial for preventing cancerous growth.   Additionally, this same SNP CDKN2A/CDKN2B SNP associated with NPC risk has been <a href="https://blog.23andme.com/2009/07/06/snpwatch-genetic-variants-near-tumor-suppressor-genes-may-increase-risk-for-brain-and-skin-cancer/" target="_blank" rel="noopener noreferrer">linked to glioma</a> in European populations.
All of the genes identified in this study–TNFRSF19, MDS1-EVI1 and CDKN2A/CDKN2B–have previously been shown to be involved in leukemia.   This suggests that there might be common disease mechanisms between that disease and NPC.   Significantly, leukemia is found at higher than average rates in people with NPC.
According to the authors, the next step for research is to investigate the interactions between the genetic susceptibility factors identified by them and others with the environmental risk factors known to influence NPC.

New Genetic Associations Revealed for Nasopharyngeal Carcinoma

<img loading="lazy" decoding="async" class="alignright size-medium wp-image-2057" title="DNA Strand" src="https://blog-api.23andme.com/wp-content/uploads/2008/11/istock_000000628100xsmall-300x225.jpg" alt="DNA Strand" width="300" height="225" srcset="https://blogcms.23andme.com/wp-content/uploads/2008/11/istock_000000628100xsmall-300x225.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2008/11/istock_000000628100xsmall.jpg 400w" sizes="auto, (max-width: 300px) 100vw, 300px" />
A new genetic screening process has helped researchers understand the genetic causes of cancer, such as how mutations accumulated in a person&#8217;s life can cause leukemia.
The study compared a person&#8217;s own DNA to that of their cancerous cells. Using this technique researchers found DNA mutations that may have led to abnormal cell growth, or cancer.
Researchers at Washington University School of Medicine in St. Louis sequenced a single leukemia patient&#8217;s healthy and cancerous DNA. They were able to pinpoint several mutations out of hundreds that appeared likely to have contributed to his cancer&#8217;s development. He is the second patient with acute myeloid leukemia (AML) to have his entire genome and that of his cancerous tissue fully sequenced. Typically only the portions of the genome that are known to be prone to cancer-causing mutations are sequenced.

“If we only look at genes with known or suspected links to cancer, we’ll miss many mutations that are potentially relevant,” co-author Richard Wilson said in statement.
The study by Mardis et al., published in The New England Journal of Medicine,  identified a total of 750 mutations in the patient’s AML genome. Most of them proved irrelevant. However, 64 were likely to be cancer-related. Two previously known mutations were newly linked to leukemia.
<h6>Personalized Sequencing</h6>
Timothy Lay, the senior author of the study, explained that most patients with this type of leukemia are treated similarly, at least in the beginning. This study&#8217;s patient, for example, received various chemotherapy drugs. Defining cancer mutations could help determine which patients need aggressive treatment. So, for example, a stem cell transplant, which could be effectively treated with less intense therapies.
Personalized sequencing of entire cancer genomes is possible now because the accuracy and cost of genome sequencing technology has dramatically improved. This study took only a few months at one-third the cost of the first AML patient, who was sequenced only one year ago.
To date 350 cancer mutations are known, but thousands of cancer genomes will need to be screened to truly explain the genetic basis for cancer. This information could be used not just to guide physicians to the most effective treatment, but also to inform patients about their prognosis.
<h6>Living in the Know</h6>
But do patients even want to know?
A recent study published in the  Journal of Genetic Counseling suggests they do. Researchers found that 98 of 99 patients with ocular melanoma, a rare, untreatable eye cancer, wanted to know. Even if their cancer had a genetic marker that gave them a 50 percent chance of dying within five years. Patients were relieved when the risk was low. However, even when the risk was high they were enabled to plan financially and make the most of their time alive.
This very personalized medicine will continue to be driven by improved diagnostic testing, according to James Downing in a recent editorial in The New England Journal of Medicine. This will identify more predictive disease markers, and lead to new therapies directed at cancer-specific mutations. He believes this technology will likely be used clinically long before we have a complete knowledge of cancer genes.

Revelations from Sequencing of Second Cancer Patient

<img loading="lazy" decoding="async" class="alignright size-full wp-image-3905" title="istock_000005160356xsmall" src="https://blog-api.23andme.com/wp-content/uploads/2009/06/istock_000005160356xsmall.jpg" alt="istock_000005160356xsmall" width="297" height="188" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/06/istock_000005160356xsmall.jpg 435w, https://blogcms.23andme.com/wp-content/uploads/2009/06/istock_000005160356xsmall-300x190.jpg 300w" sizes="auto, (max-width: 297px) 100vw, 297px" />
Much to the surprise of many scientists, a lot of the SNPs identified in genome wide association studies have not been in the parts of genes that encode the molecular machinery of a cell.
Instead, many SNPs have been found on the edges of genes, in regions of DNA that control when the genes get turned on or off, in parts of genes that get cut out before the final proteins are made, or even in so-called &#8220;gene deserts,&#8221; areas of DNA that don&#8217;t seem to contain any genes at all.
Rs6983267 is one of these gene desert SNPs.   People with two copies of the G version of this SNP have about 1.4 times the odds of developing colorectal cancer compared to people who have two Ts, but so far no one has been able to figure out why.   Two new reports show that, even though this SNP seems to be out in the middle of nowhere in the genome, it can interact with components of a signaling pathway known to be overactive in more than 90% of all colorectal cancers.
Results from <a href="https://dx.doi.org/10.1038/ng.406" target="_blank" rel="noopener">Tuupanen et al.</a> and <a href="https://dx.doi.org/10.1038/ng.403" target="_blank" rel="noopener">Pomerantz et al.</a>, both published online this week in the journal Nature Genetics, show that the region of DNA containing rs6983267 is an &#8220;enhancer&#8221; that can turn up the amount of protein made from the MYC gene. The riskier G version of the SNP appears to make the enhancer stronger than the T version.
In colorectal cancer, increased MYC expression can often be traced to overactivity of a molecular signaling pathway known as <a href="https://en.wikipedia.org/wiki/Wnt_signaling_pathway" target="_blank" rel="noopener">Wnt</a>.   Both groups of researchers found that the region of DNA containing rs6983267 was responsive to Wnt signaling, thus connecting this SNP to a well-established cancer mechanism.
Drugs that attack the Wnt pathway are attractive candidates for cancer therapies.   According to Tuupanen et al., the new results suggest that these same types of drugs might be useful for personalized cancer prevention treatments in people who carry the riskier version of rs6983267.

Better Understanding of Colorectal Cancer-Associated SNP Could Guide Treatment

<img loading="lazy" decoding="async" class="alignright size-full wp-image-2674" title="hela_hoechst_33258" src="https://blog-api.23andme.com/wp-content/uploads/2009/01/hela_hoechst_33258.jpg" alt="" width="350" height="267" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/01/hela_hoechst_33258.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2009/01/hela_hoechst_33258-300x229.jpg 300w" sizes="auto, (max-width: 350px) 100vw, 350px" />
Editor&#8217;s note: We posted this a couple of years ago, but in light on the historic agreement between the family of Henrietta Lacks and National Institutes of Health, we thought it worthy of re-posting. Also read Carl Zimmer&#8217;s great piece in the <a href="https://www.nytimes.com/2013/08/08/science/after-decades-of-research-henrietta-lacks-family-is-asked-for-consent.html?ref=science&amp;_r=0http://" target="_blank" rel="noopener">New York Times</a>. The post has been slightly changed from the original.
Henrietta Lacks was only 31 years old when she died on October 4, 1951. But thanks to one of the more shameful, yet at the same time scientifically beneficial, episodes in the history of medical science, cells from the tumor that killed her grow today in laboratories all over the world.
<h6>An Aggressive Cancer</h6>
Henrietta Lacks&#8217; story is a powerful scientific and ethical lesson for researchers who work with human subjects. It all started in February 1951, when Dr. George Gey of Johns Hopkins was given a sample of cervical cancer cells that had been taken from a young African American woman who was dying of cervical cancer.
Gey wanted the cells because he was one of many scientists trying to find a way to grow human cells in for an extended period of time in the laboratory. It had been done with animal cells, but no one could get human cells to keep growing for more than a few weeks.
Ms. Lacks’ cells were different. Her tumor grew so aggressively that at her autopsy, just eight months after the cells were removed, it was found that her cancer had infiltrated her entire body.
<h6>HeLa Cells</h6>
These extraordinary growth properties, while deadly for Henrietta, were probably what brought success to Gey. He was able to keep the cells growing in a dish long-term, and he soon found himself sending samples to other scientists who wanted to study human cells, who then passed them on to their colleagues, and so on and so on.
Soon HeLa cells, as they were called (Henrietta Lacks), were everywhere and being used for everything — cancer research, drug testing, even development of the polio vaccine. The lessons learned from growing these cells also allowed scientists to coax other cells to survive in the Petri dish, ushering in a new era of biology.
But as the number of cell lines scientists had established grew, a problem emerged. It can be very difficult to distinguish two different types of cells just by looking at them under a microscope. How could a researcher know for sure which kind of cells their colleagues had sent them? How could they check to make sure they hadn’t mixed them up?
<h6>G6PD</h6>
In the late 1960s, a scientist named Stan Gartler came up with a plan.
None of the DNA technologies so commonplace today, such as SNP chips, were around back then, but scientists did know about genetic variation between people. They had observed that for certain proteins, some people made one version, while other people made a different version.
One of the variable proteins Garlter focused on was an enzyme called glucose-6-phosphate dehydrogenase (G6PD) that helps to protect cells from damage. There are two forms — A and B. The A version is primarily found in people with African ancestry. People with other ethnic backgrounds almost never have this version.
It wasn’t known then, but the two different forms of G6PD are the result of a single SNP.
(In addition to the A and B forms, there are actually other forms of the G6PD gene that cause a person to completely lack the G6PD protein. Read more in the 23andMe Carrier Status Report for G6PD deficiency. 23andMe customers can figure out whether they have type A or type B G6PD using the table at the end of this post).
<h6>Unique Cell Lines</h6>
Gartler also looked at an enzyme called phosphoglucomutase (PGM) that comes in three forms: 1, 1-2, and 2.
And now it’s time to cue the dramatic music:
Gartler was given 18 supposedly unique human cell lines by the American Type Culture Collection, a repository that scientists could order different types of cells from. One of the 18 was a vial of HeLa cells. The rest were all different types of cells, many allegedly from Caucasian people.
When Gartler tested the G6PD and PGM proteins in these 18 cell lines, he got a surprising result. All of them had the G6PD type A and PGM type 1.
There was no way this could be right. The cells from Caucasians should not have been G6PD type A. And even if all the cells had come from African Americans, it was still too much of a coincidence. In his report of his findings published in <a href="https://www.ncbi.nlm.nih.gov/pubmed/5641128?ordinalpos=5&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum" target="_blank" rel="noopener">Nature</a>, Gartler calculated that the chance of all 18 cell lines being G6PD type A and PGM type 1 was “absurdly low” — 1 in 6,000,000,000,000,000.
<h6>HeLa Cells Around the World</h6>
Every single one of the cell lines Gartler was investigating, and countless others being used around the world, had been contaminated by HeLa cells. They had taken over every Petri dish of cells they had come near.
Gartler and others sounded the alarm to the scientific community, but many did not listen. Admitting that the cells they thought they had been working with were really HeLa cells was just too embarrassing and potentially devastating to so many careers. So people chose to just ignore the problem.
Unfortunately, HeLa cell contamination continues today. There are still cell banks selling HeLa cells under other names, often claiming that they are totally different types of cells. Scientists think they are getting a batch of oral cancer cells or liver cells, but in reality, it’s just another batch of HeLa cells.
<h6>A Lack of Informed Consent</h6>
Questions about the startling ubiquity of HeLa cells are not the only ones that have been raised since Henrietta Lacks&#8217; death. It has become clear over the decades that by not asking her permission for her cells, or informing her family about how they were being used in experiments and bought and sold literally by the millions, scientists have dishonored a woman whose death has brought life to so many others.
The emotional impact of this saga on her family has been enormous. They knew nothing of HeLa cells until they were contacted several decades after Henrietta&#8217;s death. It was by scientists who were looking for blood samples that could help them tease out more information from the HeLa cells. Imagine the shock of being told that a lost loved one was alive, in a sense, in a freezer at a university.
The family, poor and undereducated, thought they were being tested to see if they would die of cancer too. When researchers never got back to them they were left to wonder about their own fates. Today they understand more about what has happened. However, that doesn’t change the fact that they feel betrayed.
<h6>The Immortal Life of Henrietta Lacks</h6>
The questions of who owns a tissue sample or has permission to use it is hotly debated. And what are the responsibilities of researchers especially when there is money involved? (For information on how 23andMe deals with these issues, please read our <a href="https://www.23andme.com/about/privacy/" target="_blank" rel="noopener">privacy statement</a>, <a href="https://www.23andme.com/about/tos/" target="_blank" rel="noopener">terms of service</a> and <a href="https://www.23andme.com/about/consent/" target="_blank" rel="noopener">consent form.</a>) For more on this aspect of the Henrietta Lacks story, check out writer Rebecca Skloot’s <a href="http://rebeccaskloot.com/" target="_blank" rel="noopener">website. </a>There you&#8217;ll find excerpts of her book on the subject, <a href="http://rebeccaskloot.com/the-immortal-life/" target="_blank" rel="noopener">“The Immortal Life of Henrietta Lacks.”</a> (The book was published in 2010 and became a bestseller.)
The G6PD gene is on the X chromosome. That means that men have one copy and women have two. Men will therefore either be type A or B. Women on the other hand can have both types of the enzyme. The type of G6PD enzyme expressed in each of a woman&#8217;s cells depends on which of her X chromosomes is &#8220;inactivated&#8221;. 23andMe customers can check their data at rs1050829 to figure out their G6PD type.
<table border="1">
<tbody>
<tr>
<th></th>
<th>Genotype</th>
<th>G6PD Type</th>
</tr>
<tr>
<td>Men</td>
<td></td>
<td></td>
</tr>
<tr>
<td></td>
<td>C</td>
<td>A</td>
</tr>
<tr>
<td></td>
<td>T</td>
<td>B</td>
</tr>
<tr>
<td>Women</td>
<td></td>
<td></td>
</tr>
<tr>
<td></td>
<td>CC</td>
<td>A</td>
</tr>
<tr>
<td></td>
<td>TT</td>
<td>B</td>
</tr>
<tr>
<td></td>
<td>CT</td>
<td>A/B</td>
</tr>
</tbody>
</table>

cancer — Page 2